Executive board

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.

Roger Reeves

USA

Roger H. Reeves, Ph.D. Professor Emeritus Dept. of Physiology and Dept. of Genetic Medicine Johns Hopkins University Schl. of Medicine

Jean Delabar

France

Brain Institute, CNRS, Paris