Executive board

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

Andre Strydom

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.

    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.

      Alain Dekker

      Treasurer
      University Medical Center Groningen, Netherlands

      Dr. Alain Dekker (PhD) works at the University of Groningen (RUG) - University Medical Center Groningen (UMCG) in the city of Groningen in the north of The Netherlands. Together with many (inter)national expertise centers for intellectual disabilities, he studies ageing and dementia in people with intellectual disabilities, with a special interest in behavioural and psychological symptoms of dementia in people with Down syndrome.

        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. 

            Elizabeth Fisher

            Chair of Preclinical Committee
            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.

              William Mobley

              Elect 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.

                Eugene Yu

                Chair of Preclinical Committee
                Roswell Park Comprehensive Cancer Center and State University of New York, USA

                Eugene Yu is Professor of Genetics and Genomics at Roswell Park Comprehensive Cancer Center and University at Buffalo. His lab is interested in mouse-based molecular genetic and epigenetic analysis of Down syndrome.

                  Anne-Sophie Rebillat

                  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.

                    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.

                      Mara Dierssen

                      Past 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.

                        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.

                          Jean Delabar

                          Chair of Sponsoring committee
                          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.

                            Past presidents
                            Mara Dierssen

                            Past 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.

                              Jean Delabar

                              Past 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

                                  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:

                                          Anne-Sophie Rebillat

                                          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.

                                            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.

                                              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

                                                    Committee for Preclinical Research

                                                    Chairs:

                                                    Elizabeth Fisher

                                                    Chair of Preclinical Committee
                                                    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.

                                                      Eugene Yu

                                                      Chair of Preclinical Committee
                                                      Roswell Park Comprehensive Cancer Center and State University of New York, USA

                                                      Eugene Yu is Professor of Genetics and Genomics at Roswell Park Comprehensive Cancer Center and University at Buffalo. His lab is interested in mouse-based molecular genetic and epigenetic analysis of 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. 

                                                              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.

                                                                    Randall Roper

                                                                    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.

                                                                      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.

                                                                              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:

                                                                                                        Stephanie Sherman

                                                                                                        Chair of the Developmental Clinical Subcommittee
                                                                                                        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.

                                                                                                          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.

                                                                                                              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.

                                                                                                                      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.

                                                                                                                        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: 

                                                                                                                            Jean Delabar

                                                                                                                            Chair of Sponsoring committee
                                                                                                                            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.

                                                                                                                              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 2021 – 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.

                                                                                                                                                            Past Program Committees

                                                                                                                                                            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.

                                                                                                                                                            Members

                                                                                                                                                            María Luz Montesinos

                                                                                                                                                            University o f Seville. Spain

                                                                                                                                                            María Luz Montesinos is Associate Professor at the University of Seville, and researcher associated to the Instituto de Biomedicina de Sevilla (IBiS). Her research interest is focused on the role of local translation on synaptic alterations in Down syndrome mouse models.

                                                                                                                                                              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.

                                                                                                                                                                  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.

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