Executive board

The Executive Board of T21RS consists of the president, secretary, treasurer, and the chairmen of the six committees.

William Mobley

President
University of California, USA

William Mobley is Professor of Neurosciences, UC San Diego. His lab focuses on the transport of trophic signalling in endosomes and the impact of changes in endosomal structure and function in Alzheimer disease (AD), including Alzheimer disease in Down syndrome (AD-DS). These studies rely heavily on models of AD and AD-DS and aim to employ novel approaches to examining the impact of gene dose on neuronal function and maintenance.

    Maria Martinez de Lagran

    Secretary
    Center for Genomic Regulation, Spain

    Dr. Maria Martínez de Lagrán (PhD) is research assistant at the Centre for Genomic Regulation (CRG). Her research is focused on understanding how genetic unbalance in Down syndrome modifies the way the brain integrates information. She has mainly worked on behavioural phenotyping of Down syndrome mouse models and understanding the underlying altered molecular pathways.

      Yannick Vermeiren

      Treasurer
      Wageningen University & Research (WUR), Netherlands

      Dr. Yannick Vermeiren (PhD) currently works at the Wageningen University at the division of Human Nutrition and Health (Netherlands) as a tenure track Assistant Professor of Nutrition, Neurochemistry and Neurodegenerative disease. In addition, he is also appointed as a Guest Professor at the Faculty of Medicine and Health Sciences at the University of Antwerp (Belgium). Yannick is actively involved in nutritional, clinical, neurochemical, neuropathological and behavioral studies of neurodegenerative disease, both in the elderly, as well as in people with Down syndrome. His research interests are mainly focused on neurotransmitter alterations, behavioral and psychological symptoms of dementia, microbiota-gut-brain axis involvement in Alzheimer’s or Parkinson’s disease, and, nutritional and lifestyle interventions.

        Elizabeth Head

        Chair Program committee
        University of California Irvine. USA

        Elizabeth Head (PhD) is Professor at the University of California at Irvine in the Department of Pathology & Laboratory Medicine. She is actively engaged in longitudinal studies of aging and Alzheimer disease in people with Down syndrome that includes cognitive, clinical, fluid biomarker and neuroimaging outcome measures. Her lab is focused on the study of anatomical and molecular changes in the brains of people with Down syndrome

          Sandra Guidi

          Chair of Education and training committee
          Bologna University. Italy

          Sandra Guidi (PhD) is assistant Professor in the Medical Faculty of Bologna University (Italy). Her research is directed to analyze the molecular and physilogical mechanism of brain development, that are modified in chromosomal diseases like Down syndrome. Currently, she is studing the effects of pharmacotherapies that can improve neuronal development and cognitive abilities of patients with Down syndrome. 

            Frances Wiseman

            Chair of Preclinical Committee
            Dementia Research Institute, UK

            Dr. Wiseman was awarded an Alzheimer’s Research UK Senior Fellowship (2018) and UK Dementia Research Institute Fellowship (2019) to establish her independent research group at University College London; she also holds the post of UK DRI Programme Leader for Animal Models. Dr. Wiseman has a particular interest in understanding how genes on chromosome 21, other than APP, modify Alzheimer’s disease-relevant phenotypes using preclinical approaches.

              María Carmona-Iragui

              Chair of Science & Society Committee
              Hospital de la Santa Creu i Sant Pau, Spain

              María Carmona-Iragui is a clinical neurologist and principal investigator in Hospital de la Santa Creu i Sant Pau and Fundació Catalana Síndrome de Down, in Barcelona (Spain). She develops clinical and research activity focused on the treatment and study of neurodegenerative diseases, particularly Alzheimer’s disease, both in the general population and in people with Down syndrome.

                Costa
                Alberto Costa

                Chair of Clinical committee
                Case Western Reserve University School of Medicine, USA

                Dr. Costa is Professor at the Departments of Pediatrics and Psychiatry at Case Western Reserve University School of Medicine. For over two decades, Dr. Costa has been investigating the pathophysiology and potential pharmacotherapeutic approaches to Down syndrome using both preclinical and clinical strategies. He is currently the principal investigator of a phase II clinical trial of the effects of memantine on the cognitive abilities of adolescents and young adults with Down syndrome.

                  Eugenio Barone

                  Chair of Sponsorship & Membership Committee
                  Sapienza University of Rome, Italy

                  Eugenio Barone, is Associate Professor of Biochemistry at Sapienza University of Rome (IT). His research interest mainly focuses on understanding the link beteween defects of neurotrophic signaling and increased brain cells damage during ageing and neurodegeneration in DS.

                    Attendees to executive board meetings without voting rigths

                    Randall Roper

                    Co-chair of Preclinical Committee
                    Indiana University-Purdue University Indianapolis. USA

                    Randall Roper is Associate Professor of Genetics in Department of Biology at Indiana University-Purdue University Indianapolis (IUPUI). His lab studies the origins and treatments of bone deficits associated with Down syndrome.

                      Anne-Sophie Rebillat

                      Co-Chair of Science & Society Committee
                      Institut Jérôme Lejeune, France

                      Anne-Sophie Rebillat is a geriatrician. Within the Jérôme Lejeune Institute in Paris, she runs a clinic specialized in the management of age-related diseases for patients with Down syndrome. Her research interest is mainly focused on comorbidities of cognitive functioning with aging in people with Down syndrome, e.g. Alzheimer’s disease and Obstructive Sleep Apnea.

                        MPerluigi
                        Marzia Pierluigi

                        Co-Chair Sponsorship & Membership Committee
                        - Sapienza University of Rome

                          Michael Yaeger

                          Chair Communication Workgroup
                          University of Colorado (USA)

                            Brian Skotko

                            Chair of the Developmental Clinical Subcommittee
                            Massachusetts General Hospital, USA

                            A Board-certified medical geneticist, Dr. Skotko is the Emma Campbell Endowed Chair on Down Syndrome at Massachusetts General Hospital. As the Director of the hospital’s Down Syndrome Program, he has dedicated his professional energies toward children with cognitive and development disabilities.

                              Andre Strydom

                              Past President
                              King’s College London, UK

                              Dr André Strydom (MRCPsych, MSc, PhD) is a Professor in Intellectual Disabilities at the world-leading Institute of Psychiatry, Psychology and Neuroscience at King’s College London, where his research is focused on mental disorders in adults with neurodevelopmental conditions, including Down syndrome and other genetic disorders. Professor Strydom is particularly interested in ageing-related conditions such as dementia in adults with Intellectual Disability and Down syndrome. He is the chief investigator of the LonDownS consortium http://www.ucl.ac.uk/london-down-syndrome-consortium which consists of several research groups from prominent London universities (KCL, UCL, QMUoL, Birkbeck and the Crick Institute) collaborating on various aspects of Alzheimer’s disease in Down syndrome. One of the important aims of the consortium is to deliver the knowledge, tools and expertise that is necessary to enable clinical trials of treatment to prevent or delay the onset of dementia in individuals with Down syndrome. Professor Strydom works as a Consultant Psychiatrist in Intellectual Disabilities at the South London and the Maudsley NHS Foundation Trust.

                                Marie-Claude Potier

                                Elect President
                                French National Center for Scientific Research (CNRS). France

                                Dr. Marie-Claude Potier is Director of Research at the French National Center for Scientific Research (CNRS) and Co-Group Leader of the “Alzheimer’s and Prion Diseases” research group at ICM-Institut du Cerveau et de la Moelle Epinière (Brain and Spine Institute), at the Pitié-Salpêtrière Hospital, Paris, France. She has been working for the past twenty-five years on Down syndrome (DS) understanding cognitive deficits and Alzheimer’s disease and developing pharmacological treatments.

                                  Past presidents
                                  Jean Delabar

                                  President 2014-2015
                                  Brain and Spine Institute (CNRS). France

                                  Jean Delabar is Emeritus Research Director at Brain and Spine institute (CNRS). He has characterized molecular alterations present in animal models and patients with Down syndrome and is assessing effects of pharmacological treatments on DS models at different ages.

                                    Roger Reeves

                                    President 2016-2017
                                    Johns Hopkins University School of Medicine. USA

                                    Roger Reeves is Professor in the Dept. of Medical Genetics and the Dept. of Physiology at the Johns Hopkins University School of Medicine, Baltimore MD. His lab develops and uses mouse and other models to understand the genetic basis for phenotypes expressed in Down syndrome

                                      Mara Dierssen

                                      President 2018-2019
                                      Center for Genomic Regulation, Spain

                                      Center for Genomic Regulation, The Barcelona Institute for Science and Technology, Barcelona, Spain Mara Dierssen is senior scientist at the Center for Genomic Regulation, Barcelona. Her research interest is centered on understanding molecular and cellular mechanisms of cognition and behavior and their perturbation in Down syndrome intellectual disability.

                                        Andre Strydom

                                        President 2020-2021
                                        King’s College London, UK

                                        Dr André Strydom (MRCPsych, MSc, PhD) is a Professor in Intellectual Disabilities at the world-leading Institute of Psychiatry, Psychology and Neuroscience at King’s College London, where his research is focused on mental disorders in adults with neurodevelopmental conditions, including Down syndrome and other genetic disorders. Professor Strydom is particularly interested in ageing-related conditions such as dementia in adults with Intellectual Disability and Down syndrome. He is the chief investigator of the LonDownS consortium http://www.ucl.ac.uk/london-down-syndrome-consortium which consists of several research groups from prominent London universities (KCL, UCL, QMUoL, Birkbeck and the Crick Institute) collaborating on various aspects of Alzheimer’s disease in Down syndrome. One of the important aims of the consortium is to deliver the knowledge, tools and expertise that is necessary to enable clinical trials of treatment to prevent or delay the onset of dementia in individuals with Down syndrome. Professor Strydom works as a Consultant Psychiatrist in Intellectual Disabilities at the South London and the Maudsley NHS Foundation Trust.

                                          T21RS Committees

                                          Committee for Education & Training

                                          Chair

                                          Sandra Guidi

                                          Chair of Education and training committee
                                          Bologna University. Italy

                                          Sandra Guidi (PhD) is assistant Professor in the Medical Faculty of Bologna University (Italy). Her research is directed to analyze the molecular and physilogical mechanism of brain development, that are modified in chromosomal diseases like Down syndrome. Currently, she is studing the effects of pharmacotherapies that can improve neuronal development and cognitive abilities of patients with Down syndrome. 

                                            Committee members

                                            Renata Bartesaghi

                                            Medical Faculty of Bologna University. Italy

                                            Renata Bartesaghi was an Associate Professor of Physiology in the Medical Faculty of Bologna University (Italy). Her scientific activity is based on the study of early pharmacological interventions able to improve brain development by using a mouse model of Down syndrome

                                              Fiorenza Stagni

                                              Exercise and Sport Sciences Faculty of Bologna University. Italy

                                              Fiorenza Stagni (PhD) is assistant Professor in the Exercise and Sport Sciences Faculty of Bologna University (Italy). Her research is directed to analyze the mechanism of brain development in Down syndrome. She is studying the effects of precocious pharmacotherapies that can improve neuronal development and cognitive abilities in Down syndrome.

                                                Carmen Martínez-Cué

                                                Faculty of Medicine of the University of Cantabria, Spain

                                                Carmen Martínez-Cué is an Associate Professor of Pharmacology in the Faculty of Medicine of the University of Cantabria, Santander (Spain). Her research activity has been centered in the study of different animal models of human disorders including autism and Alzheimer’s disease, but specially Down syndrome.

                                                  Committee for Science & Society

                                                  Chairs:

                                                  María Carmona-Iragui

                                                  Chair of Science & Society Committee
                                                  Hospital de la Santa Creu i Sant Pau, Spain

                                                  María Carmona-Iragui is a clinical neurologist and principal investigator in Hospital de la Santa Creu i Sant Pau and Fundació Catalana Síndrome de Down, in Barcelona (Spain). She develops clinical and research activity focused on the treatment and study of neurodegenerative diseases, particularly Alzheimer’s disease, both in the general population and in people with Down syndrome.

                                                    Anne-Sophie Rebillat

                                                    Co-Chair of Science & Society Committee
                                                    Institut Jérôme Lejeune, France

                                                    Anne-Sophie Rebillat is a geriatrician. Within the Jérôme Lejeune Institute in Paris, she runs a clinic specialized in the management of age-related diseases for patients with Down syndrome. Her research interest is mainly focused on comorbidities of cognitive functioning with aging in people with Down syndrome, e.g. Alzheimer’s disease and Obstructive Sleep Apnea.

                                                      Committee members

                                                      Sebastián Videla

                                                      University of Barcelona. Spain

                                                      Sebastià Videla Cés, MD PhD, professor of Clinical Pharmacology in University of Barcelona, develops his professional activity as Head of Clinical Research Support Unit, Department of Clinical Pharmacology, Bellvitge University Hospital. In neurosciences research area, he is working in Alzheimer’ disease in Down syndrome people, Niemann-Pick diseases and pain (acute and chronic).

                                                        Lotta Granholm

                                                        University of Denver, USA

                                                        Lotta Granholm is a Neuroscientist and Executive Director for the Knoebel Institute for Healthy Aging at the University of Denver in Colorado, USA. Her work is focused on translational studies of Down syndrome and Alzheimer’s disease, using mouse models, cell lines and human biomarker studies. She is the Principal Investigator for the Down Syndrome Biobank Consortium (DSBC), which consists of multiple groups in Europe and the USA focused on providing brain tissue samples from Down syndrome patients and an Adjunct Professor at the Karolinska Institutet in Stockholm.

                                                          Peter De Deyn
                                                          Peter De Deyn

                                                          University Medical Center Groningen
                                                          RUG Scientific Director Alzheimer Center Groningen, The Netherlands

                                                            Isabel Barroeta

                                                            Hospital de la Santa Creu i Sant Pau, Spain

                                                            Isabel Barroeta (MD, PhD) is a clinical neurologist working at the Memory Unit at the Hospital de la Santa Creu i Sant Pau and Fundació Catalana Síndrome de Down (Barcelona, Spain). She focused her PhD on the study of Neuropathological Markers of Human Resilience to Alzheimer’s Disease at the MassGeneral Institute for Neurodegenerative Disease / Harvard medical school (Massachusetts, USA). Current interest: translational research and clinical trials in neurodegenerative diseases.

                                                              Jacqueline London

                                                              French Association for Research on Trisomy 21 (AFRT). France

                                                              Emeritus Professor in molecular biology and pathology in various fields. Since 1993 In the field of Down syndrome, I raised and worked on transgenic mice for APP, CBS DYRK1A, SOD genes for various aspects related to Down syndrome. In 1990, we raised French Association for Research on Trisomy 21 (AFRT) to improve research as for other illnesses. I was president for many years and now vice-president and in charge of our publication « News on chromosome 21 ».

                                                                Eric Rubenstein

                                                                Boston University, USA

                                                                Eric Rubenstein, PhD, ScM, is an Assistant Professor in the Department of Epidemiology at Boston University. He received is PhD from the University of North Carolina Gillings Schools of Public Health and his ScM from the Johns Hopkins Bloomberg School of Public health. His research focuses on improving health and well-being in the population with intellectual and developmental disabilities (IDD) across the life course. Dr. Rubenstein’s research is motivated and continually inspired by his friends, Special Olympic athletes, and fellow advocates in the IDD community.

                                                                  Committee for Preclinical Research

                                                                  Chairs:

                                                                  Frances Wiseman

                                                                  Chair of Preclinical Committee
                                                                  Dementia Research Institute, UK

                                                                  Dr. Wiseman was awarded an Alzheimer’s Research UK Senior Fellowship (2018) and UK Dementia Research Institute Fellowship (2019) to establish her independent research group at University College London; she also holds the post of UK DRI Programme Leader for Animal Models. Dr. Wiseman has a particular interest in understanding how genes on chromosome 21, other than APP, modify Alzheimer’s disease-relevant phenotypes using preclinical approaches.

                                                                    Randall Roper

                                                                    Co-chair of Preclinical Committee
                                                                    Indiana University-Purdue University Indianapolis. USA

                                                                    Randall Roper is Associate Professor of Genetics in Department of Biology at Indiana University-Purdue University Indianapolis (IUPUI). His lab studies the origins and treatments of bone deficits associated with Down syndrome.

                                                                      Committee members:

                                                                      Anita Bhattacharyya

                                                                      University of Wisconsin. USA

                                                                      Anita Bhattacharyya is at the Waisman Center at the University of Wisconsin-Madison. She uses human trisomy stem cells to study early cortical development in Down syndrome.

                                                                        Marie-Claude Potier

                                                                        French National Center for Scientific Research (CNRS). France

                                                                        Dr. Marie-Claude Potier is Director of Research at the French National Center for Scientific Research (CNRS) and Co-Group Leader of the “Alzheimer’s and Prion Diseases” research group at ICM-Institut du Cerveau et de la Moelle Epinière (Brain and Spine Institute), at the Pitié-Salpêtrière Hospital, Paris, France. She has been working for the past twenty-five years on Down syndrome (DS) understanding cognitive deficits and Alzheimer’s disease and developing pharmacological treatments.

                                                                          Stylianos Antonarakis

                                                                          University of Geneva, Switzerland

                                                                          Stylianos Antonarakis is an active Professor Emeritus of the University of Geneva, Switzerland. He was the founder of the department of Genetic Medicine, and the Institute of Genetics and Genomics of Geneva. His laboratory studies the genomics and the molecular pathophysiology of Down syndrome and the gene dosage imbalance of aneuploidies. 

                                                                            Elizabeth Fisher

                                                                            University College London, UK

                                                                            Elizabeth Fisher is Professor of Neurogenetics at University College London, UK. She has a long-standing interest, with her collaborator Victor Tybulewicz, in designing and engineering novel mouse models in order to help understand genes and mechanism in DS.

                                                                              Tarik Haydar

                                                                              George Washington University School of Medicine, USA

                                                                              Tarik Haydar is Professor of Pediatrics, Pharmacology and Physiology at the George Washington University School of Medicine and Director of the Center for Neuroscience Research at Children’s National Hospital in Washington DC. His lab focuses on forebrain development and cellular and molecular causes of intellectual disability in Down syndrome.

                                                                                Yann Herault

                                                                                Institut de Génétique et de Biologie Moléculaire et Cellulaire. France

                                                                                Yann Herault is a Research Director at the National Centre for Scientific Research in France (CNRS). He has worked on deciphering the genetic and molecular mechanisms altered in Down syndrome by generating new mouse models and focusing on cognition and behaviour.

                                                                                  Vicky Puig

                                                                                  IMIM-Hospital del Mar Medical Research Institute, Spain

                                                                                  Vicky Puig is a principal investigator at the Barcelona Hospital del Mar Medical Research Institute. Her lab combines in vivo electrophysiology and cognitive neuroscience in mouse models of Down syndrome to investigate the neural substrates of intellectual disability.

                                                                                    Mara Dierssen

                                                                                    Center for Genomic Regulation, Spain

                                                                                    Center for Genomic Regulation, The Barcelona Institute for Science and Technology, Barcelona, Spain Mara Dierssen is senior scientist at the Center for Genomic Regulation, Barcelona. Her research interest is centered on understanding molecular and cellular mechanisms of cognition and behavior and their perturbation in Down syndrome intellectual disability.

                                                                                      Jean Delabar

                                                                                      Brain and Spine institute (CNRS), France

                                                                                      Jean Delabar is Emeritus Research Director at Brain and Spine institute (CNRS). He has characterized molecular alterations present in animal models and patients with Down syndrome and is assessing effects of pharmacological treatments on DS models at different ages.

                                                                                        Roger Reeves

                                                                                        Johns Hopkins University School, USA

                                                                                        Roger Reeves is Professor in the Dept. of Medical Genetics and the Dept. of Physiology at the Johns Hopkins University School of Medicine, Baltimore MD. His lab develops and uses mouse and other models to understand the genetic basis for phenotypes expressed in Down syndrome

                                                                                          William Mobley

                                                                                          University of California San Diego, USA

                                                                                          William Mobley is Professor of Neurosciences, UC San Diego. His lab focuses on the transport of trophic signalling in endosomes and the impact of changes in endosomal structure and function in Alzheimer disease (AD), including Alzheimer disease in Down syndrome (AD-DS). These studies rely heavily on models of AD and AD-DS and aim to employ novel approaches to examining the impact of gene dose on neuronal function and maintenance.

                                                                                            Eugene YU

                                                                                            Roswell Park Cancer Institute, USA

                                                                                            Dr. Yu received his PhD degree from the University of Texas at Austin. As a postdoctoral project investigator, he set up a transgenic mouse facility at MD Anderson Cancer Center Science Park. As a research associate in Marvin Meistrich’s laboratory at MD Anderson Cancer Center, he worked on generation and characterization of mouse mutants deficient in transition proteins. As a research associate/research assistant professor in Allan Bradley’s laboratory at Baylor College of Medicine, he generated chromosomal deletions and duplications to facilitate genetic analysis of mouse chromosome 11 and human chromosome 17. Currently, he is a faculty member of the Department of Cancer Genetics and Genomics, Genetics and Genomics Program, at Roswell Park Comprehensive Cancer Center, and Genetics, Genomics and Bioinformatics Program at the University at Buffalo. He directs the Children’s Guild Foundation Down Syndrome Research Program as well as the Gene Targeting and Transgenic Shared Resource at Roswell Park Comprehensive Cancer Center.

                                                                                              Clinical committee - adult subcommittee

                                                                                              Chair: 

                                                                                              Costa
                                                                                              Alberto Costa

                                                                                              Chair of Clinical committee
                                                                                              Case Western Reserve University School of Medicine, USA

                                                                                              Dr. Costa is Professor at the Departments of Pediatrics and Psychiatry at Case Western Reserve University School of Medicine. For over two decades, Dr. Costa has been investigating the pathophysiology and potential pharmacotherapeutic approaches to Down syndrome using both preclinical and clinical strategies. He is currently the principal investigator of a phase II clinical trial of the effects of memantine on the cognitive abilities of adolescents and young adults with Down syndrome.

                                                                                                Committee members:

                                                                                                Anne-Shopie Rebillat

                                                                                                Jérôme Lejeune Institute, France

                                                                                                Anne-Sophie Rebillat is a geriatrician. Within the Jérôme Lejeune Institute in Paris, she runs a clinic specialized in the management of age-related diseases for patients with Down syndrome. Her research interest is mainly focused on comorbidities of cognitive functioning with aging in people with Down syndrome, e.g. Alzheimer’s disease and Obstructive Sleep Apnea.

                                                                                                  Andre Strydom

                                                                                                  King’s College London, UK

                                                                                                  Dr André Strydom (MRCPsych, MSc, PhD) is a Professor in Intellectual Disabilities at the world-leading Institute of Psychiatry, Psychology and Neuroscience at King’s College London, where his research is focused on mental disorders in adults with neurodevelopmental conditions, including Down syndrome and other genetic disorders. Professor Strydom is particularly interested in ageing-related conditions such as dementia in adults with Intellectual Disability and Down syndrome. He is the chief investigator of the LonDownS consortium http://www.ucl.ac.uk/london-down-syndrome-consortium which consists of several research groups from prominent London universities (KCL, UCL, QMUoL, Birkbeck and the Crick Institute) collaborating on various aspects of Alzheimer’s disease in Down syndrome. One of the important aims of the consortium is to deliver the knowledge, tools and expertise that is necessary to enable clinical trials of treatment to prevent or delay the onset of dementia in individuals with Down syndrome. Professor Strydom works as a Consultant Psychiatrist in Intellectual Disabilities at the South London and the Maudsley NHS Foundation Trust.

                                                                                                    Elizabeth Head

                                                                                                    University of California Irvine. USA

                                                                                                    Elizabeth Head (PhD) is Professor at the University of California at Irvine in the Department of Pathology & Laboratory Medicine. She is actively engaged in longitudinal studies of aging and Alzheimer disease in people with Down syndrome that includes cognitive, clinical, fluid biomarker and neuroimaging outcome measures. Her lab is focused on the study of anatomical and molecular changes in the brains of people with Down syndrome

                                                                                                      Nowalk Andrew
                                                                                                      Andrew Nowalk

                                                                                                      University of Pittsburgh, USA

                                                                                                      Dr. Nowalk is Associate Professor in the Department of Pediatrics at the University of Pittsburgh School of Medicine. He has served as a pediatric infectious disease consultant at UPMC Children’s Hospital of Pittsburgh for 15 years, with special interest in hospital acquired infections and the care of infectious complications of Down syndrome in the pediatric population.

                                                                                                        Mike Rafii
                                                                                                        Michael Rafii

                                                                                                        University of Southern California
                                                                                                        Medical Director of the Alzheimer’s Therapeutic Research Institute, USA

                                                                                                        Dr. Rafii is Associate Professor of Neurology at the Keck School of Medicine of the University of Southern California and Medical Director of the Alzheimer’s Therapeutic Research Institute (ATRI). He is Principal Investigator of the NIH-funded Alzheimer’s Clinical Trial Consortium for Down syndrome (ACTC-DS).

                                                                                                          Potter
                                                                                                          Huntington Potter

                                                                                                          Founder and director of the University of Colorado Alzheimer’s and Cognition Center, USA

                                                                                                          Dr. Huntington Potter is a Professor of Neurology, a member of the Linda Crnic Institute for Down Syndrome and the founder and director of the University of Colorado Alzheimer’s and Cognition Center. His research focuses on the mechanistic relationship between Alzheimer’s disease and Down syndrome and on the development of novel therapeutics and their testing in animals models and human trials. He is a Fellow of the American Association for the Advancement of Science and a Founding Fellow of the National Academy of Inventors.

                                                                                                            Juan Fortea

                                                                                                            Hospital de la Santa Creu i Sant Pau, Spain

                                                                                                            Dr Fortea combines his research and clinical activities at the Hospital of Sant Pau in Barcelona and the Catalan Foundation for Down Syndrome in Barcelona, Spain, where he leads the neuroimaging laboratory and directs the Alzheimer’s Disease and Down Syndrome Unit. He has extensive experience in clinical practice and in medical research. Dr. Fortea is the coordinator of a worldwide pioneering population based health plan for adults with Down syndrome in Catalonia. This program is the foundation for the Down Alzheimer Barcelona Neuroimaging Initiative (DABNI), one of the largest cohorts of adults with Down syndrome with multimodal biomarker studies.

                                                                                                              Weihong Song

                                                                                                              University of British Columbia, Canada

                                                                                                              Dr. Song is the Canada Research Chair in Alzheimer's Disease and a Full Professor with tenure at Department of Psychiatry at The University of British Columbia. Over the past 30 years, his lab has made significant contributions to define the mechanisms underlying Alzheimer’s disease and the molecular pathways contributing to the development of Alzheimer’s disease in Down syndrome. Dr. Song was elected to Fellowship in the Canadian Academy of Health Sciences (CAHS) in 2012, one of the highest honors for members of the Canadian health sciences community.

                                                                                                                Shahid Zaman
                                                                                                                  Wayne Silverman

                                                                                                                  University of California Irvine, USA

                                                                                                                  Dr. Silverman began conducting research on various aspects of developmental disorders in 1972 as a Research Scientist at the New York State Institute for Basic Research in Developmental Disabilities (IBR). Following 30 years of service, he joined the faculty of the Kennedy Krieger Institute and Johns Hopkins University School of Medicine as a professor in the Department of Psychiatry and Behavioral Sciences, becoming Director of its Intellectual and Developmental Disabilities Research Center. He moved to California in 2018 and is currently a Visiting Researcher in the Department of Pediatrics, University of California, Irvine, and continues to serve as a Co-Principal Investigator of a large NIH-funded study of biomarkers of Alzheimer’s disease in adults with Down syndrome

                                                                                                                    Sharon Krinsky-McHale
                                                                                                                      Benjamin Handen
                                                                                                                        Clinical committee - developmental subcommittee

                                                                                                                        Chair:

                                                                                                                        Brian Skotko

                                                                                                                        Chair of the Developmental Clinical Subcommittee
                                                                                                                        Massachusetts General Hospital, USA

                                                                                                                        A Board-certified medical geneticist, Dr. Skotko is the Emma Campbell Endowed Chair on Down Syndrome at Massachusetts General Hospital. As the Director of the hospital’s Down Syndrome Program, he has dedicated his professional energies toward children with cognitive and development disabilities.

                                                                                                                          Committee members:

                                                                                                                          Cécile Cieuta-Walti

                                                                                                                          Medical University of Sherbrooke , QC, Canada

                                                                                                                          Dr. Cieuta-Walti is a Pediatric Neurologist, working in Medical University of Sherbrooke, QC, Canada. She is involved in Clinical Trial in Down Syndrome People ( in collaboration with Jerome Lejeune Institute) and is a member of  the scientific committee of the Jerome Lejeune Foundation.

                                                                                                                            Costanzo
                                                                                                                            Floriana Costanzo

                                                                                                                            Bambino Gesù Children’s Hospital, Italy

                                                                                                                            Dr. Costanzo is a Psychologist in the Child and Adolescent Neuropsychiatry Unit of the Bambino Gesù Children’s Hospital in Rome and Assistant Professor of Developmental Neuroscience at the European University of Rome. Her research interests include the neuropsychological and psychopathological characterization as well as the development of clinical trials for improving cognition and psychopathology in children and adolescents with Down syndrome.

                                                                                                                              Stephanie Sherman

                                                                                                                              Emory University, USA

                                                                                                                              Dr. Sherman is a genetic epidemiologist in the Department of Human Genetics at Emory University, Atlanta GA. Her research focus is to identify genetic and environmental risk factors that are associated with the causes and clinical consequences of trisomy 21.

                                                                                                                                Jessica Hunter

                                                                                                                                Center for Health Research of Kaiser Permanente Northwest. Portland, USA

                                                                                                                                Dr. Hunter is a genetic epidemiologist in the Department of Translational and Applied Genomics at the Center for Health Research of Kaiser Permanente Northwest. Her research interests include the characterization of risk factors and associated with chromosome 21 nondisjunction as well as clinical outcomes and healthcare needs in Down syndrome.

                                                                                                                                  Julie Korenberg

                                                                                                                                  University of Utah. USA

                                                                                                                                  Dr. Korenberg is a Professor of Pediatrics at the University of Utah and the Director of Center for Integrated Neuroscience and Human Behavior. She has had a long-standing research program in Down syndrome, investigating the genetics, neurobiology and multiscale imaging of neural circuitry, using both animal and human models.

                                                                                                                                    Silvia Sacco

                                                                                                                                    Institut Jerome Lejuene. France

                                                                                                                                    Dr. Sacco is licensed as developmental psychologist and neuropsychologist. She is working at the Institut Jérôme Lejeune in Paris. She is involved clinical and research programs. Her interest is to support and develop research programs for people with Down Syndrome for a better understanding of issues related to development and cognitive decline in Down Syndrome.

                                                                                                                                      Stephanie Santoro

                                                                                                                                      Massachusetts General Hospital. USA

                                                                                                                                      Dr. Santoro is a clinical geneticist at Massachusetts General Hospital and the Director of Quality Improvement Research at the Mass General Hospital Down Syndrome Program. Her research interest include the study of health, the use of quality improvement to maximize health outcomes for individuals with Down syndrome, development and implementation health care guidelines, and collaboration to study unique aspects of Down syndrome such as Unexplained Regression in Down Syndrome.

                                                                                                                                        Rafael de la Torre

                                                                                                                                        IMIM-Hospital del Mar Medical Research Institute. Spain

                                                                                                                                        Dr. Rafael de la Torre is a pharmacologist in the Neurosciences Research Program at the Hospital del Mar Medical Research Institute, Barcelona, Spain. His research is mainly focused in the clinical development of pharmacological and non-pharmacological approaches for improving cognitive performance and adaptive functionality in individuals having Down syndrome

                                                                                                                                          Stefano Vicari

                                                                                                                                          Bambino Gesu’ Children’s Hospital, Italy

                                                                                                                                          Dr. Vicari is the head of the Child and Adolescent Neuropsychiatry Unit of the Bambino Gesù Children’s Hospital in Rome and Full Professor of Child Neuropsychiatry at the Catholic University of the Sacred Heart of Rome. His research interests include the study of the cognitive and psychopathological profile of children and adolescents with Down syndrome as well as the development of clinical trials for improving their clinical outcome.

                                                                                                                                            With guidance from:

                                                                                                                                            • Sophie Durand (FR)
                                                                                                                                            • Elisa Fuca (IT)
                                                                                                                                            • Kate Hughes (UK)
                                                                                                                                            • Alfieri Paolo (IT)
                                                                                                                                            • André Strydom (UK)
                                                                                                                                            • Stefania Veltri (IT)
                                                                                                                                            Committee for Sponsoring & Membership

                                                                                                                                            Chair: 

                                                                                                                                            Eugenio Barone

                                                                                                                                            Chair of Sponsorship & Membership Committee
                                                                                                                                            Sapienza University of Rome, Italy

                                                                                                                                            Eugenio Barone, is Associate Professor of Biochemistry at Sapienza University of Rome (IT). His research interest mainly focuses on understanding the link beteween defects of neurotrophic signaling and increased brain cells damage during ageing and neurodegeneration in DS.

                                                                                                                                              MPerluigi
                                                                                                                                              Marzia Pierluigi

                                                                                                                                              Co-Chair Sponsorship & Membership Committee
                                                                                                                                              - Sapienza University of Rome

                                                                                                                                                Committee members:

                                                                                                                                                Pablo Helguera

                                                                                                                                                Instituto Ferreyra., Argentina

                                                                                                                                                  Marie-Claude Potier

                                                                                                                                                  French National Center for Scientific Research (CNRS). France

                                                                                                                                                  Dr. Marie-Claude Potier is Director of Research at the French National Center for Scientific Research (CNRS) and Co-Group Leader of the “Alzheimer’s and Prion Diseases” research group at ICM-Institut du Cerveau et de la Moelle Epinière (Brain and Spine Institute), at the Pitié-Salpêtrière Hospital, Paris, France. She has been working for the past twenty-five years on Down syndrome (DS) understanding cognitive deficits and Alzheimer’s disease and developing pharmacological treatments.

                                                                                                                                                    Carmen Martínez-Cué

                                                                                                                                                    Faculty of Medicine of the University of Cantabria, Spain

                                                                                                                                                    Carmen Martínez-Cué is an Associate Professor of Pharmacology in the Faculty of Medicine of the University of Cantabria, Santander (Spain). Her research activity has been centered in the study of different animal models of human disorders including autism and Alzheimer’s disease, but specially Down syndrome.

                                                                                                                                                      Yong Dai

                                                                                                                                                      Shenzhen people's hospital. China

                                                                                                                                                      Dr Yong Dai, Professor, M.D. and Ph.D. Director of clinical medical research center in Shenzhen people's hospital, Director of birth defects of guangdong clinical medical research center, Director of innovation platform for birth defects and hereditary diseases of shenzhen hospital center; Director of Public Experimental Platform for Shenzhen Islet stem cell transplantation.

                                                                                                                                                        Sujay Ghosh

                                                                                                                                                        University of Calcutta, India

                                                                                                                                                          Hampus Hillerstrom

                                                                                                                                                          LuMind IDSC Foundation. USA

                                                                                                                                                          President and CEO of LUMIND IDSC Foundation

                                                                                                                                                            Michelle Sie Whitten

                                                                                                                                                            Global Down Syndrome Foundation. USA

                                                                                                                                                            Michelle Sie Whitten is the President and CEO of the Global Down Syndrome Foundation (GLOBAL). She co-founded the organization in 2009, after giving birth to her daughter Sophia, who has Down syndrome. Whitten has received numerous honors for her Down syndrome advocacy work, including speaking at the United Nations for the Mission of the Holy See. Prior to her career in the non-profit sector, Whitten was a cable TV pioneer in East Asia working for Liberty Media Corporation and Starz Encore

                                                                                                                                                              Program committee

                                                                                                                                                              T21RS International Conference 2022 – Long Beach , USA

                                                                                                                                                              Chair:

                                                                                                                                                              Elizabeth Head

                                                                                                                                                              Chair Program committee
                                                                                                                                                              University of California Irvine. USA

                                                                                                                                                              Elizabeth Head (PhD) is Professor at the University of California at Irvine in the Department of Pathology & Laboratory Medicine. She is actively engaged in longitudinal studies of aging and Alzheimer disease in people with Down syndrome that includes cognitive, clinical, fluid biomarker and neuroimaging outcome measures. Her lab is focused on the study of anatomical and molecular changes in the brains of people with Down syndrome

                                                                                                                                                                Committee members: 

                                                                                                                                                                Anita Bhattacharyya

                                                                                                                                                                University of Wisconsin. USA

                                                                                                                                                                Anita Bhattacharyya is at the Waisman Center at the University of Wisconsin-Madison. She uses human trisomy stem cells to study early cortical development in Down syndrome.

                                                                                                                                                                  Yann Herault

                                                                                                                                                                  Institut de Génétique et de Biologie Moléculaire et Cellulaire. France

                                                                                                                                                                  Yann Herault is a Research Director at the National Centre for Scientific Research in France (CNRS). He has worked on deciphering the genetic and molecular mechanisms altered in Down syndrome by generating new mouse models and focusing on cognition and behaviour.

                                                                                                                                                                    Costanzo
                                                                                                                                                                    Floriana Costanzo

                                                                                                                                                                    Bambino Gesù Children’s Hospital, Italy

                                                                                                                                                                    Dr. Costanzo is a Psychologist in the Child and Adolescent Neuropsychiatry Unit of the Bambino Gesù Children’s Hospital in Rome and Assistant Professor of Developmental Neuroscience at the European University of Rome. Her research interests include the neuropsychological and psychopathological characterization as well as the development of clinical trials for improving cognition and psychopathology in children and adolescents with Down syndrome.

                                                                                                                                                                      Brian Skotko

                                                                                                                                                                      Massachusetts General Hospital, USA

                                                                                                                                                                      A Board-certified medical geneticist, Dr. Skotko is the Emma Campbell Endowed Chair on Down Syndrome at Massachusetts General Hospital.  As the Director of the hospital’s Down Syndrome Program, he has dedicated his professional energies toward children with cognitive and development disabilities.

                                                                                                                                                                        Mara Dierssen

                                                                                                                                                                        Center for Genomic Regulation, Spain

                                                                                                                                                                        Center for Genomic Regulation, The Barcelona Institute for Science and Technology, Barcelona, Spain Mara Dierssen is senior scientist at the Center for Genomic Regulation, Barcelona. Her research interest is centered on understanding molecular and cellular mechanisms of cognition and behavior and their perturbation in Down syndrome intellectual disability.

                                                                                                                                                                          Maria Carmona-Iragui

                                                                                                                                                                          Hospital de la Santa Creu i Sant Pau, Spain

                                                                                                                                                                          María Carmona-Iragui is a clinical neurologist and principal investigator in Hospital de la Santa Creu i Sant Pau and Fundació Catalana Síndrome de Down, in Barcelona (Spain). She develops clinical and research activity focused on the treatment and study of neurodegenerative diseases, particularly Alzheimer’s disease, both in the general population and in people with Down syndrome.

                                                                                                                                                                            Tao Ma

                                                                                                                                                                            Wake Forest University School of Medicine, USA

                                                                                                                                                                            Dr. Ma currently is an Associate Professor with tenure at Wake Forest University School of Medicine (NC, USA), Department of Internal Medicine-Gerontology and Geriatric Medicine. Dr. Ma is a neuroscientist with specialization in learning, memory, and synaptic plasticity. His research focuses on molecular mechanisms underlying pathophysiology of Alzheimer’s disease (AD) and Down Syndrome (DS), with long-term goal to identify potential novel therapeutic targets or biomarkers. Primary techniques applied in his laboratory include electrophysiology, confocal microscopy, behavioral tests, and molecular approaches in transgenic mouse models.

                                                                                                                                                                              Kelly Sullivan

                                                                                                                                                                              Linda Crnic Institute for Down Syndrome, USAUS

                                                                                                                                                                              Dr. Sullivan is an Assistant Professor of Pediatrics in the Section of Developmental Biology at the University of Colorado Anschutz Medical Campus and a member of the Linda Crnic Institute for Down Syndrome. His research focuses on the role of interferon signaling in Down syndrome.

                                                                                                                                                                                Past Program Committees

                                                                                                                                                                                T21RS Virtual Conference 2021

                                                                                                                                                                                Chair: Elizabeth Head
                                                                                                                                                                                Committee members: Anita Bhattacharyya (USA), Maria Carmona-Iragui (Spain), Floriana Costanzo (Italy),  Mara Dierssen (Spain), Yann Herault (France), Tao Ma (USA), Brian Skotko (USA), Kelly Sullivan (USA).

                                                                                                                                                                                 

                                                                                                                                                                                T21RS International Conference 2019 – Barcelona, Spain

                                                                                                                                                                                Chair: Anita Bhattacharyya
                                                                                                                                                                                Committee members: Tom Blumenthal (USA), John Crispino (USA), Yasuji Kitabatake (Japan), Victor Tybulewicz (UK),  Bradley T. Christian (USA), Weihong Song (USA), Juan Fortea (Spain), Anna Esbensen (USA), Pablo Helguera (Argentina)

                                                                                                                                                                                 

                                                                                                                                                                                T21RS International Conference 2017 – Chicago, US

                                                                                                                                                                                Chair: Mara Dierssen

                                                                                                                                                                                Committee members: Anita Bhattacharyya, Jean Delabar (France), Cynthia Lemere (USA), Dean Nizetic (Singapore), Jorge Busciglio (USA), Nicole Schupf (USA), Pablo Caviedes (Chile), Deny Menghini (Italy).

                                                                                                                                                                                 

                                                                                                                                                                                T21RS International Conference 2015 – Paris, France

                                                                                                                                                                                Chair: Jorge Busciglio (USA)

                                                                                                                                                                                Committee members: Elizabeth Head, Marie-Claude Potier (France), Sanders-Brown (USA), Frances Wiseman (UK), Katheleen Gardiner (USA), John O’Bryan (USA), Renata Bartesaghi (Italy), Mara Dierssen.

                                                                                                                                                                                Work groups

                                                                                                                                                                                Communication group

                                                                                                                                                                                Aims

                                                                                                                                                                                The Communication Workgroup has the aim of disseminating the T21RS activities and highlighting new advances in Down syndrome research trough regular newsletters and the society website. This workgroup has established new communication strategies with patient associations and stakeholders.

                                                                                                                                                                                Activities

                                                                                                                                                                                To produce a monthly Newsletter, which is distributed to the T21RS members, main sponsors and also among a list of interested persons who subscribed through our web site.

                                                                                                                                                                                To update the website with news, events and job offers

                                                                                                                                                                                Community Manager of the T21RS social media such as Twitter account and youtube channel.

                                                                                                                                                                                Chair:

                                                                                                                                                                                Michael Yaeger

                                                                                                                                                                                Chair Communication Workgroup
                                                                                                                                                                                University of Colorado (USA)

                                                                                                                                                                                  Workgroup members

                                                                                                                                                                                  Claudia Cannavo

                                                                                                                                                                                  University College London. UK

                                                                                                                                                                                  Claudia Cannavo is a PhD student at University College London. She is working on the molecular mechanistic of Alzheimer disease in Down Syndrome with Dr Frances Wiseman and Prof Elizabeth Fisher.

                                                                                                                                                                                    Hamlett
                                                                                                                                                                                    Eric D. Hamlett

                                                                                                                                                                                    Medical University of South Carolina, Charleston, USA

                                                                                                                                                                                    Department of Pathology and Laboratory Medicine, Medical University of South Carolina, Charleston, USA.

                                                                                                                                                                                      Sujay Ghosh

                                                                                                                                                                                      University of Calcutta (India)

                                                                                                                                                                                        Honorary members

                                                                                                                                                                                        Muriel Davisson

                                                                                                                                                                                        USA

                                                                                                                                                                                        Muriel Davisson is an American neuroscientist who developed the Down syndrome mouse model Ts65Dn. In 1959 she graduated from Pemetic High School in Southwest Harbor, Maine. She holds Ph. D. from Penn State University (1969). She was director of Genetic Resource Science at Jackson Laboratory. Her work concentrates on developing mouse models of human genetic disorders including Down syndrome. She is now semiretired from Jackson Laboratory. Her mice was used in number of Down syndrome studies leading to promising drug therapies.[1] In 2002 the National Down Syndrome Society named her “Researcher of the Year.”

                                                                                                                                                                                          Jesús Florez

                                                                                                                                                                                          Spain

                                                                                                                                                                                          Jesús Flórez is Doctor of Medicine and Surgery (Spain), Doctor of Pharmacology (Ph.D.) (USA), and Professor of Pharmacology at the University of Cantabria. He initiated his scientific career as a professor and researcher in the field of Pharmacology, however, his work in the field of Down syndrome has been dedicated to investigate the neurobiological aspects of intellectual disability in animal models of Down syndrome and analyze possible beneficial pharmacological products, the results of which have been published in prestigious international journals. He has taught more than 500 lectures and classes in courses, symposia, conferences, conferences dedicated to Down syndrome in all Spanish provinces, all Latin American countries, USA, France, Belgium, Germany, United Kingdom, Italy, or Sweden. He is president of the Fundación Iberoamericana Down21 and directs three web pages: Channel Down21 (www.down21.org), DownCiclopedia (www.downciclopedia.org) and Down Syndrome: Adult Life (www.sindromedownvidaadulta.org/). He is Scientific Advisor of the Down Syndrome Foundation of Cantabria and director of the magazines Revista Síndrome de Down (http://revistadown.downcantabria.com/) and Revista Virtual Canal Down21 (http://www.down21.org/revista-virtual). He has authored eight books and several hundred articles, both scientific and informative, on intellectual disability and Down syndrome. The most recently published are: “Down Syndrome: Neurobiology, Neuropsychology, Mental Health” (2015) and “Down Syndrome.” Communicate the news: The first therapeutic act “(2017). Prof. Flórez has received several awards for his research and personal commitment on Down syndrome and intellectual disability, among which Christian Pueschel Award for Scientific Research in Down Syndrome, awarded by the National Down Syndrome Congress, USA in 2005, the International Award for dedication to Down Syndrome, 1st Ibero-American Congress on Down Syndrome, Buenos Aires (2007), Gold Medal, Official Physicians Association of Cantabria (2007), Gold Medal, Spanish Red Cross (2008), First Prize “Family and Disability” awarded to the Flórez Troncoso family by the Chair “Family and Disability”, Universidad Pontificia de Comillas, Madrid (2013), Exceptional Meritorious Service Award, National Down Syndrome Congress, USA (2015) or the Award for the Best Scientific Career in Pharmacology. Spanish Society of Pharmacology (2015).

                                                                                                                                                                                            Mary Lou Oster-Granite

                                                                                                                                                                                            USA

                                                                                                                                                                                              Marthe Gautier

                                                                                                                                                                                              France

                                                                                                                                                                                              Born in 1925, in Montenils (Seine-et-Marne), France, Marthe Gautier is a medical doctor and researcher in Paris. In 1955, she defended her thesis in pediatric cardiology under the direction of Robert Debré, in charge of pediatric in France at that time. Professor Debré offered her a fellowship for one year at Harvard University where she acquired knowledge and skills in pediatric cardiology and cell culture. When returned to Paris, Gautier accepted a position at the Trousseau Hospital, in Raymond Turpin’s team where she founded the first laboratory in France for cell culture. Marthe Gautier is best known for her work on pediatric and for her role in the discovery of the cause of Down syndrome. This discovery was published, in 1959, in the proceedings of the French Academy of Sciences. In addition to Trousseau Hospital, Gautier worked at INSERM and at Kremlin-Bicêtre Hospital with Daniel Alagille. Marthe Gautier has received many awards in recognition of her important work. She received, in 1971, the Winslow Price and, in 1975, the Monthyon Price of the French Academy of Sciences. In 2014, she was awarded the Grand Prize of Human Genetics from the French Society of Human Genetics and the French Federation of Human Genetics. Gautier received the insignia of the Legion of Honour, the premier order of the French republic in 2014. Marthe Gautier is currently in retirement but she is still highly active in science, art, and history. In February 2017, she co-founded Ethics & Integrity, a non-profit organization, to promote research ethics and women in sciences.

                                                                                                                                                                                                Patricia Jacobs

                                                                                                                                                                                                Scotland

                                                                                                                                                                                                Patricia (Pat) Jacobs was born in London in October 1934. Her father worked for the I.C.I. Nobel Explosives division and on the outbreak of the Second World War her family moved north to the west coast of Scotland. Pat was educated in Scotland and went to study botany at St Andrew’s University, but transferred to Zoology. Pat graduated in 1956 with a first-class honours degree and her undergraduate thesis on the meiotic process in Mantis religiosa was subsequently published in the Journal of Genetics, with her mentor Professor H.G. Callan, a reknowned cytogeneticist. Pat went straight into a research post, without undertaking a PhD. She first worked as a mouse geneticist for Dr Kathleen Stein at Mount Holyoke College, Massachusetts, USA. On returning to UK in 1957 she joined the UK Medical Research Council Clinical Effects of Radiation Research Unit, in Edinburgh, under the direction of Michael Court Brown. This was an immensely productive period and by 1966 not only had she been made a staff scientist, she was also awarded a DSc from St Andrew’s University for her outstanding work on human cytogenetics. Pat spent a sabbatical year with Dan Lindsley at UCSD in 1970-71, and moved to the University of Hawaii in 1972 for another outstanding period of discovery. In 1988, via a two years at Cornell University Medical School, she returned to UK to take up a post, until she retired, at the Wessex Regional Health Authority in Southampton, UK. Pat is a pioneer of cytogenetics, specifically human cytogenetics. She has worked at the absolute forefront of knowledge and made enough seminal discoveries for many careers, let alone one person’s. These include first identifying the chromosomal make up of Klinefelter’s syndrome, first identifying an XXX female, and three months after the Gautier, Turpin, Lejeune finding of trisomy 21 in Down syndrome, publishing her own corroborative study. That was just 1959 alone… Many many more discoveries, Fellowship of the Royal Society, election to the US National Academy of Science, many prizes and medals have been deservedly bestowed on Pat, and in 2017 she was awarded Lifetime Membership of the T21 Research Society. Pat is a far-sighted, meticulous, insightful scientist who has made an extraordinary contribution to our understanding of biology and of what it means to be human.

                                                                                                                                                                                                  Marie Odile Rethoré

                                                                                                                                                                                                  France

                                                                                                                                                                                                  Following her first research works (MedicalDoctor Thesis 1957) to the effect of irradiation on the human hereditary heritage, and demonstrated in humans the absence of mutagenic level effect, she devoted her research to the study of chromosomal human diseases and in particular Down syndrome. She was particularly devoted to the patient phenotypes and karyotypes and to the careful description of malformations and dysmorphisms, to the dermatoglyphs analysis. All this contributed to a better knowledge of the human chromosomic pathologies. A lot of morbid entities were described firstly by her (Chr 9 short arm trisomy -1970, chr 3 short arm trisomy-1972, Chr 4 short arm trisomy -1973, Chr 12 short arm trisomy -1975, monosomy of the proximal region of the chr21 long arm-1979, Chr 11 short arm trisomy -1980, Chr 19 mosaicism, Chr 16 long arm trisomy 1982, Chr 17 short arm trisomy 1983, distal short arm region chr 17 monosomy 1986) Beside these original work, her daily work belonging to Pr J Lejeune and Pr J Lafourcade improved the different variants genetic knowledge and in particular Down syndrome . The analysis of the detailed structure of the chromatids let her described different original chromosomal rearrangements. (translocation, chromosomic insertion,juxta centromeric monosomy, centric fusion between homologous chromosomes) The demonstration in collaboration with different biochemistry department let her determined the specific localization of some enzymes and in particular on the chromosome 21 the Superoxidedismutase (1976), the phosphoribosyl glycinamidesynthase and the cystathionine beta synthase (1984) . She did it also for some enzyme on other chromosomes. She continued her medical practice always devoted to the medical follow-up of her patients and to the particular care of the families, in particular the Down Syndrome population, center of her medical activities. Some clinical research activities in collaboration with other departments analysis on the Down syndrome population: -The folate polymorphism on both Down syndrome population and the controls (140 patients per group) and folate polymorphism on the mothers of Down syndrome patients and controlled mothers. -The malignant tumors in Down syndrome patients ( breast, brain andtesticular tumors) -The cœliac disease in Down syndrome and The growth curve in Down syndrome – Clinical, Psychological biological and anatomy analysis and risk factors of aging Down syndrome patients. Out of more than 160 publications, 40 are linked to Down syndrome.

                                                                                                                                                                                                    Nicole Creau

                                                                                                                                                                                                    France

                                                                                                                                                                                                    Nicole Creau, former Director of Research at CNRS, graduated in Biochemistry and Genetics in 1972 and in Immunology for her PhD from Paris University. Her research helped in the building of the physical map of chromosome 21 and identification of new genes. She participated in the definition of the Down syndrome Chromosome Region which has been associated with many important phenotypes of trisomy 21 including intellectual disability. In the latter stages of her research career, she focused on the study of three Down syndrome candidate genes: Kcnj15, Pcp4 and Dyrk1A, obtaining evidence of their role in neuronal function and in mechanisms involved in brain development and brain aging. Nicole Creau was very active in the organization of scientific and dissemination events in the field of Down syndrome. She was a member of the T21RS Communication group (2015-2017) and of the organizing committee of the First International Conference.

                                                                                                                                                                                                      Aimé RAVEL

                                                                                                                                                                                                      France

                                                                                                                                                                                                      Born in Paris in 1955, pediatrician and geneticist, from my arrival at the beginning of October 1981 in Professor Lejeune’s department at Necker Hospital to my departure from the Jérôme Lejeune Institute at the end of March 2022, I devoted all my energy to patients with intellectual disabilities related to a genetic anomaly, most of them had Down syndrome. After a few years in Lejeune’s laboratory, finding that not all our patients received high-quality care, I decided to devote myself to their medical follow-up. Student of Jérôme Lejeune and Marie-Odile Rethoré I was animated by the following convictions: 1/ Only one thing is sacred: human life. 2/ Human dignity is not based on skin color, gender, age, number of limbs, eyes or chromosomes and, like Hippocrates, I will not discriminate in the care I provide. 3/ Intellectual disability is probably the worst thing that can happen to a human being and we must do everything to improve the situation of patients. 4/ This improvement is based on 3 pillars: translational research, careful medical healthcare and rehabilitation to limit the impact of associated abnormalities, training of doctors and caregivers so that all patients are well cared for. 5/ All diseases were incurable until they were found for treatment. I am convinced that if we had put as many researchers and as much money into research on Down’s syndrome as we did on Covid-19, we would have made considerable progress. We also need to help our patients to find meaning in life. I hope from the bottom of my heart that young researchers and young practitioners will share the same enthusiasm for serving patients.

                                                                                                                                                                                                        Rafael Blesa

                                                                                                                                                                                                        Spain

                                                                                                                                                                                                        Having gained his MD in 1975 from the Autonomous University of Barcelona-Hospital de la Santa Creu i Sant Pau, Dr Blesa continued his training there as a Neurology resident until 1981. Attending Physician Department of Neurology Hospital Clínic, Barcelona in1982. In 1989 he relocated to the National Institute of Neurological Disorders and Stroke, in Bethesda, MD, USA, where he was Adjunct Researcher in the Experimental Therapeutics Branch. Following his return to Spain in 1992, he became Associate Professor of Neurology in the Faculty of Medicine at the University of Barcelona and Chief of the Memory and Alzheimer’s Disease Unit in the Hospital Clinic. In May 2003 he was appointed Director of the Neurology Department at the Hospital de la Santa Creu i Sant Pau and Professor of Neurology at the Autonomous University of Barcelona. Dr. Blesa has retired on December 1st, 2021. He was President of the Catalan Society of Neurology (2001–2003), and President of the Alzheimer’s Disease Treatment Committee of the Catalan Government (2002–2006). Numerary member of the Royal European Academy of Doctors (2010). Corresponding Academician of the American Neurological Association and the American Academy of Neurology. Other appointments: Spanish delegate of the World Federation of Neurology and the European Board of Neurology (1996-2001), President of the Catalan Society of Neurology (2000-2004) and President of the Alzheimer’s Disease Treatment Committee of the Catalan Government (2002–2006). Chairman of the XVIII Alzheimer Disease International (ADI) Conference in Barcelona, (2002), Delegate of the Medical & Scientific Advisory Committee of the Alzheimer´s Disease International (1994), and President of the Alzheimer Spanish National Conference (2001). Prof. Blesa has a strong background in research, participating in more than 30 grants. He has published more than 255 articles in international peer-reviewed journals (H-index: 50), 40 book chapters, 2 books and several book reviews. His research interests include neuroimaging (FDG, Amyloid and Tau positron emission tomography), validation of neuropsychological scales, therapeutic strategies for dementia, Alzheimer's disease in Subjects with Down syndrome, and the genomic search for genes associated with Alzheimer’s disease.

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