Dear colleagues and friends,
A global webinar titled “Fragile X Syndrome: In Pursuit of a Cure,” took place on July 22 to commemorate World Fragile X Day. This complimentary event is co-organized with FRAXA Research Foundation. We are delighted that more than 5,000 registered from more than 50 countries worldwide, coming together to raise awareness of this devastating rare disease, and to foster collaborations towards better medicines for patients.
Please click the top banner or here to enjoy the on-demand video.
At WuXi AppTec, we firmly believe in a future where “every drug can be made and every disease can be treated”. That future is only possible if we all work together.
Katie Clapp, President & Co-Founder, FRAXA Research Foundation
Alison Singer, President, Autism Science Foundation
Wendy Bruce, Executive Director, Fragile X Association of Australia
Yinan Ma, VP, Fragile X Association of China
Karen Kelm, Board Member, Fragile X Foundation of Canada
Shalini Kedia, Chairperson, Fragile X Society – India
Sabrina Muggiati, Creator of the Eu Digo X Program – Brazil
Paula Gómez Ortega, Coordinator, Fragile X Syndrome Parent’s Group – Argentina
Sandz Fraser, Coordinator, Fragile X South Africa; Owner & Trustee, FiX Africa Special Needs Homeschool
Nazhi Tabatadze, Clinic coordinator at Fragile X Center, Georgia
Andrea Lee, Executive Director, Fragile X New Zealand
Craig Erickson, Professor of Clinical Psychiatry, Cincinnati Children’s Hospital and the University of Cincinnati College of Medicine
Randi Hagerman, Medical Director, MIND Institute; Distinguished Professor of Pediatrics, Endowed Chair, Fragile X Research, UC Davis Health
Elizabeth Berry-Kravis, Professor of Pediatrics, Neurological Sciences, Biochemistry, Rush University Medical Center
Moderator: Ted Brown, President, Fragile X Association of Australia
Neil Thompson, CSO, Healx
Mark Bear, Professor of Neuroscience, Picower Institute for Learning and Memory, MIT
Mark Gurney, Chairman & CEO, Tetra Therapeutics
Walter Kaufmann, CMO, Anavex Life Sciences; Adjunct Professor of Human Genetics, Emory University
Charles Large, CEO, Autifony Therapeutics
Moderator: Richard Soll, Head of Boston Office and Senior Advisor of Strategic Initiatives, WuXi AppTec
Michael Tranfaglia, Medical Director & CSO, FRAXA Research Foundation
Alison Singer, President, Autism Science Foundation
Nahum Sonenberg, Professor & Gilman Cheney Chair in Biochemistry, Goodman Cancer Research Centre, McGill University
Peter Kind, Director, Simons Initiative for the Developing Brain, Patrick Wild Centre; Professor of Developmental Neuroscience, University of Edinburgh
Sumantra Chattarji, Senior Professor, National Centre for Biological Sciences, Tata Institute of Fundamental Science, Bangalore, India
Patricia Cogram, Associate Professor, Department of Genetics, IEB, Faculty of Science, University of Chile
Shangzhi Huang, Professor of Medical Genetics, Peking Union Medical College
Elizabeth Berry-Kravis, Professor of Pediatrics, Neurological Sciences, Biochemistry, Rush University Medical Center
Hui Cai, Program Chair, VP and Head of Content, WuXi AppTec
Dr. Hui Cai joined WuXi AppTec in 2009 as Vice President of Business Development, and is currently Vice President and Head of Content Division.
Prior to WuXi, Dr. Cai spent 10 years at Johnson & Johnson Pharmaceutical Research and Development leading multiple drug discovery programs in the therapeutic areas of inflammation and autoimmune diseases. She is a co-author and co-inventor to over 50 scientific publications and issued or pending patents. Dr. Cai is a Councilor of the American Chemical Society (ACS), a member of BayHelix, and a member of the UCSD Alumni Board. In her past capacity, she served as a Commissioner at the City of San Diego Science and Technology Commission, Chair of SABPA, and President of SDCA. Dr. Cai received her BS and MS in Chemistry from Peking University, PhD from The Scripps Research Institute, and MBA from UCSD Rady School of Management as a DLA Piper – Athena Scholar.
In 1994, after her son Andy was diagnosed with Fragile X, Katie Clapp, her husband Michael Tranfaglia, and a third parent founded FRAXA Research Foundation to find a cure for Fragile X syndrome. Katie has a BA in History from Harvard University and a Masters degree in Computer Science from UNC Chapel Hill. She worked as a software engineer and college instructor in computer science before founding FRAXA. She has won a number of prizes for her work at FRAXA, including a Community Hero award from the American Red Cross and a Women of Justice award from Massachusetts Lawyers Weekly.
Alison Singer is Co-Founder and President of the Autism Science Foundation, a non-profit organization dedicated to funding innovative autism research and supporting the needs of people with autism. As the mother of a 23-year-old daughter with autism and legal guardian of her older brother with autism, she is a natural advocate. Singer served on the federal Interagency Autism Coordinating Committee (IACC) for 12 years, where she chaired the Safety and Housing Workgroups, and served on the subcommittee responsible for writing an annual strategic plan to guide federal spending for autism research. She currently serves on the executive boards of the Yale Child Study Center, the Seaver Autism Center at the Icahn School of Medicine at Mount Sinai, the Marcus Autism Center at Emory University, and the University of North Carolina Autism Research Center, as well as on the external advisory board of the CDC’s Center for Developmental Disabilities, and the New York State Immunization Advisory Committee. In addition, Singer serves on the board of directors of the International Society for Autism Research (INSAR) and chairs the INSAR Communications Committee. In 2012, the American Academy of Pediatrics named her an “autism champion.” In 2017 she received the INSAR “Outstanding Research Advocate” award and in 2018 she received the New York Families for Autistic Children Research Advocacy Award.
Prior to founding the Autism Science Foundation in 2009, she served as executive vice president of Autism Speaks and as a vice president at NBC. She graduated magna cum laude from Yale University with a B.A. in Economics and has an MBA from Harvard Business School. In 2020, she was awarded an honorary doctorate from Emory University.
In 2018 she was elected to serve on the Board of Education of the Scarsdale Union Free Public School district and in 2020 was elected Vice President of the BOE. In her free time, she enjoys Crossfit, kickboxing, and judging high school debate tournaments.
Wendy joined Fragile X Association of Australia in 2013. Wendy is passionate supporter and advocate for the Fragile X community. She is keen to raise awareness of Fragile X conditions and to influence public policy change in the areas of testing, diagnosis and treatments related to Fragile X-associated conditions. Before joining the organisation, Wendy worked in the area of knowledge management with several large professional services firms. She also has wide experience with small member-based community organisations, working in management and volunteer Board roles. Wendy currently serves as a volunteer director on the board of Genetic Alliance Australia, a not-for-profit organisation which provides information and peer support to individuals affected by rare genetic conditions. Wendy has a Bachelor of Social Science from RMIT University in Australia. Members of Wendy’s extended family are affected by Fragile X.
“It is comforting to know that someone else understands the journey you are on”
For over 15 years, Karen Kelm has been a significant leader in advocacy, support, and education for families and health care providers related to Fragile X syndrome in Canada. Based in Calgary, Alberta, Karen continues to build communities and networks between parents and health professionals while raising three children diagnosed with Fragile X syndrome.
Currently, Karen is a graduate student at the University of Alberta working towards her Master of Science in Pediatrics. Her current research focuses on Fragile X syndrome, helping to improve care coordination and communication between health care providers and families.
Karen is on the Board of Directors of the Canadian Fragile X Foundation sharing her vision and experiences to inspire forward momentum in family advocacy and support while including research. She also serves as a member of the Canadian Intellectual Disability (CANID) Network helping to understand intellectual disabilities and supporting collaboration between clinicians, researchers and families in Canada. Additionally, understanding the impact sport has on inclusion and acceptances, Karen volunteers as the manager and off-ice ambassador of Ringette for All Calgary.
Along with her notable speaking engagements across Canada, Karen frequently educates medical students and health care professionals about Fragile X syndrome and the impact on families and care providers.
“I am inspired by the journey I am on and the people around me. But most notably I am inspired by my three children, Noah, Sydney, and Ty and my husband Mike.”
Shalini founded the Fragile X Society of India in 2003 to provide a support for families whose children were impacted with Fragile X Syndrome.
In a short span the number of families grew to over 100 and we saw some families with more than 2 and 3 children affected. This highlighted the need to create awareness about Fragile X and related disorders.
We held India’s first international conference on Fragile X and Autism in 2007 and it was a paradigm shift for India. Today we have more than 2000 families we have supported and a robust networking throughout India of parents and professionals.
We are constantly striving to create awareness for Fragile X and related disorders. An accurate diagnosis opens doors for the child and empowers families to make informed medical decisions for their next child.
Creator of the Eu Digo X Program, businesswoman and mother of a X Fragile teenager, acts in support of the registered families of the program.
The Eu Digo X Program was created to disseminate information about the Fragile X Syndrome, expanding knowledge and sensitizing the Brazilian population to the cause.
I am Paula, Antonio's mum. Antonio is 26 years old, he was diagnosed with FXS 20 years ago. We live in Argentina. In 2008, after coming back from a Fragile X Family Meeting in Spain, I decided to re-found the Fragile X Syndrome Parent´s Group in Argentina. Together with another mum, María Silvia Garone, we started this journey and today we are near 120 families. Among many, our objectives include awareness of the syndrome's characteristics, supporting new parents and organizing sessions with professionals and family groups from the USA and Europe.
I am supposed to be a retired Accountant and educator but instead I find myself the proud “Granny Mom” of a 14 year old FXS boy. The African continent is unaware of Fragile X and yet it affects generations. Learning about Fragile X over 10 years ago has been a wild ride. Lack of knowledge and finding experts in the field contributes to you becoming an FXI agent. No adequate schooling facilities were found in Gqeberha so the only way to get my grandson educated to the best of his ability was to return to education and open up a Special Needs School. FiX Africa was birthed. Together with Gwen Hedges, mother to Kevin (FXS) we co-ordinate and advocate for parents and families with Fragile X in South Africa and the Mountain Kingdom of Lesotho.
I`m Nazi Tabatadze, a pediatrician with a special interest in developmental pediatrics and genetic-metabolic disorders, from Tbilisi, Georgia.
In 2017 I and my colleagues conducted a pilot study and tested 250 patients with autism spectrum disorder and intellectual disabilities. This study yielded 11 positive results for Fragile X syndrome. We presented the results of our study at a Fragile X conference in Belgrade, Serbia, where I had an opportunity to meet NFXF team.
In 2020 Fragile X Center was established in Georgia and became affiliated to the Fragile X Clinical & Research Consortium. Soon after Fragile X syndrome Georgia – a parent organization was founded.
Till now our team participated in Fragile X conferences and webinars and organized local meetings as well as meetings with the parent organization of other countries.
As the field of my professional interest is rare diseases I`m focused on raising awareness about genetic and metabolic disorders, supporting of parent organizations to ensure that patients in Georgia receive the best possible care.
Andrea Lee is the Executive Director of Fragile X New Zealand (FXNZ) and the parent of a teenager with fragile X. She has BA degree in Sociology and has worked in the education and disability sector, internationally and in New Zealand (NZ), for the past 20 years. Andrea runs the Fragile X Education Workshop in schools in NZ, and together with Anita Nicholls, in collaboration with Dr Martyn Matthews, developed and wrote the FXNZ online Fragile X Parent Education Programme. Andrea is also the chairperson of the National Board for Parent to Parent NZ Inc.
Craig A. Erickson, MD is a Professor of Psychiatry at Cincinnati Children’s Hospital Medical Center and the University of Cincinnati College of Medicine-Affiliated. Dr. Erickson leads a neurodevelopmental clinical and research group focused on improving clinical care through research discovery. He is the Director of the Cincinnati Fragile X Research and Treatment Center which is one of the largest such programs in the world. He serves as the Chair of the Clinical Trials Committee organized by the National Fragile X Foundation and is a leader in translational medicine efforts in fragile X syndrome, autism, and related disorders.
Randi Hagerman, M.D., FAAP, is a developmental and behavioral pediatrician, a Distinguished Professor of Pediatrics and the Medical Director of the MIND Institute at UC Davis. She is internationally recognized as both a clinician and researcher in the fragile X field. Hagerman received her M.D. from Stanford University, where she also carried out her Pediatric residency. She completed a Fellowship in Learning and Disabilities and Ambulatory Pediatrics at UC San Diego, then led Developmental and Behavioral Pediatrics at the University of Colorado for 20 years. She co-founded the National Fragile X Foundation in 1984. In 2000, Hagerman joined the MIND Institute. There, she and her team discovered the Fragile X-associated Tremor/Ataxia Syndrome (FXTAS). Hagerman’s research involves genotype-phenotype correlations in fragile X and she collaborates on this research with her husband, Paul Hagerman. Hagerman has written over 400 peer-reviewed articles and numerous book chapters on neurodevelopmental disorders, as well as edited several books on fragile X including a 2020 book edited by Hagerman and Hagerman titled Fragile X Syndrome and Premutation Disorders published by MacKeith press, London.
Hagerman has received numerous awards for her research including the Jerrett Cole Award from the National Fragile X Foundation for unselfish dedication in working with fragile X children and adults, the Bonfils-Stanton Foundation Award for Science including Medicine, the IASSID Distinguished Achievement Award for Scientific Literature, the 2005 and 2014 Distinguished Scholarly Public Service Award from UC Davis. In 2004, to honor both Randi and Paul Hagerman in recognition of their work in FXTAS, the National Fragile X Foundation established the Hagerman Award that recognizes research accomplishments in the field of FXTAS and is given at the bi-annual International Conference on Fragile X. In 2008, the National Fragile X Foundation again honored Hagerman with a Lifetime Achievement Award. In 2014 she received the C Anderson Aldrich Award for Outstanding Career Achievement from the AAP; in 2014 the International Sisley-Jerome Lejeune Award in France and in 2017 the Emil M. Mrak International Award from the Cal Aggie Alumni Association. Hagerman has worked internationally to establish fragile X clinical programs and research programs throughout the world. She is currently carrying out multiple targeted treatment trials in FXS including a CBD trial, a metformin international trial, and an AFQ056 NeuroNext study in addition to an Anavex 2-73 trial in Rett syndrome.
Elizabeth Berry-Kravis MD, PhD is a Professor of Pediatrics, Neurological Sciences, and Biochemistry at Rush University Medical Center in Chicago. She established the Fragile X Clinic and Research Program in 1991, through which she provides care to over 700 patients with fragile X syndrome (FXS). She has studied medical issues, epilepsy and psychopharmacology in FXS, and has been a leader in translational research in FXS including development of outcome measures and biomarkers, natural history studies, newborn screening, and particularly clinical trials of new targeted treatments in FXS, and her laboratory studies the cellular role of fragile X mental retardation protein (FMRP), relationship between FMRP and clinical function, and optimization of genetic testing methods. More recently she has expanded clinical and translational work to other neurodevelopmental disorders and genetic neurodegenerative diseases including autism spectrum disorders, Phelan McDermid syndrome, Rett syndrome, Angelman syndrome, Niemann-Pick type C, Battens disease, pantothenate kinase-associated neurodegeneration, and creatine transporter deficiency. She has received the NFXF Jarrett Cole Clinical Award, FRAXA Champion Award, NFXF William and Enid Rosen Research Award, March of Dimes Jonas Salk Research Award, American Academy of Neurology Sidney Carter Award in Child Neurology and John Merck Fund Sparkplug Award.
Professor Wm. Ted Brown is the former Director of the New York State Institute for Basic Research (IBR) in Developmental Disabilities, Staten Island, NY. Born in Montana, USA, Prof Brown received his PhD from Johns Hopkins and his MD from Harvard. Upon retiring in 2016, Prof Brown moved to Sydney and married paediatrician Dr Jacqueline Small, who runs a clinic for children with developmental disabilities. He has an appointment as Visiting Professor at the University of Sydney. He is a fellow of the American Board of Internal Medicine and the American College of Medical Genetics. Much of his 40-year research career has focused on the Fragile X syndrome and autism, along with progeria, a premature aging syndrome. Prof Brown was the first to describe a relationship between autism and the Fragile X syndrome. His IBR team was the first to demonstrate the feasibility of prenatal diagnosis for Fragile X, and subsequently has provided prenatal diagnosis for more than 2,000 known carriers. His laboratory developed a sensitive PCR assay for Fragile X and a sensitive antibody test to quantify fragile X protein (FMRP) levels in blood spots. His IBR clinic was a participant in Fragile X drug trials sponsored by Seaside, Novartis and Roche. He was the principal investigator on a CDC sponsored study of the natural history of Fragile X (FORWARD) that included 26 clinics in the US. In Sydney in 2017 he was elected to be the President of the Fragile X Association of Australia (FXAA).
Over the last 30+ years, Neil’s career has seen him progress more than 10 drugs to patients and he’s led a number of drug discovery projects in areas of cardiovascular, neurology, inflammation and oncology among others.
For 15 years, Neil was Senior Vice President of Biology at Astex Pharmaceuticals, helping the company establish itself at the forefront of drug discovery by leading the biology and pre-clinical teams to deliver two new cancer drugs (Kisqali; ribociclib and Balversa; erdafitinib in partnership with Novartis and Janssen respectively) to market. Before that, he was Director of the Immunology Platform at GlaxoSmithKline (GSK).
Neil is also Deputy Chair of the UK MRC DPFS panel and Chair of the MRC CLD/ADI committee, has authored more than 40 publications and patents and sits on the advisory boards of several scientific institutions in the UK.
Neil received his doctorate in Biochemistry from King’s College London.
Dr. Mark Bear is Picower Professor of Neuroscience in The Picower Institute for Learning and Memory and the Department of Brain and Cognitive Sciences, Massachusetts Institute of Technology. He was an Investigator of the Howard Hughes Medical Institute for 22 years from 1994 to 2015, and served as Director of the Picower Institute from 2007 to 2009. Prior to moving to MIT in 2003, Dr. Bear was the Sidney A. and Dorothy Doctors Fox Professor at Brown University School of Medicine for 17 years. After receiving his B.S. degree from Duke University, he earned his Ph.D. degree in neurobiology at Brown. He took postdoctoral training from Wolf Singer at the Max Planck Institute for Brain Research in Frankfurt, Germany, and from Leon Cooper at Brown. His long-standing scientific interest in how the brain is modified by experience, and his lab is currently focused on applying knowledge of the elementary mechanisms of synaptic plasticity to overcome genetic or environmental adversity. Bear’s research on Fragile X led to the influential mGluR theory and development of new, potentially disease-modifying therapies.
Dr. Mark Gurney founded Tetra as a drug development company in 2011 to develop meaningful medications for large unmet needs including Alzheimer’s disease. He has held positions in academia and within the pharma industry. Dr. Gurney was named one of two leading inventors in the field of Alzheimer’s Disease therapeutics for his discovery of the beta-secretase, a key enzyme in the amyloid pathway that releases the A-beta peptide from the amyloid protein precursor.
Dr. Gurney’s resume with biotech companies includes work in drug discovery and development as Senior Vice President at deCODE genetics, Inc.; Director Genomics, Pharmacia Corporation; Associate Professor, Northwestern University Feinberg School of Medicine; and Assistant Professor, University of Chicago Medical School. In addition to his work on Alzheimer’s disease, Dr. Gurney developed the SOD1-G93A transgenic mouse model of ALS.
Dr. Gurney has authored 117 peer reviewed papers that have been cited over 26,000 times and holds 36 issued patents. He earned a PhD in neuroscience from the California Institute of Technology and an MBA from the Kellogg Graduate School of Management at Northwestern University.
Dr. Walter Kaufmann is the Chief Medical Officer of Anavex Life Sciences Corp. and an Adjunct Professor of Human Genetics at Emory University. Trained as a child neurologist and developmental neuroscientist, he has over 25 years of research experience in neurodevelopmental disorders (NDDs), mainly Rett and fragile X (FXS) syndromes, during a career that has included full professorship at Johns Hopkins University and Harvard University. His laboratory and clinical investigations have covered molecular pathways, neuroimaging, animal models, and clinical trials of targeted, disease-modifying therapies, including development of outcome measures and biomarkers. He has been Co-PI of the Rett Syndrome Natural History Study (NIH) and a member of the Steering Committee of the CDC-funded FORWARD FXS study since its beginning. He was also a founder of the Fragile X Clinical and Research Consortium (FXCRC). His clinical trial experience spans 15 drug trials of NDDs, serving in different capacities including PI, DSMB member, and medical monitor (NeuroNEXT). Dr. Kaufmann has also held many leadership positions in the NDD field, including membership in the Scientific and Clinical Advisory Committee of the National Fragile X Foundation, Chair of RettSearch, and member of DSM-5’s Neurodevelopmental Disorders Work Group. He has also served as member and chair of NIH and DoD study sections. He has published over 200 peer-reviewed articles, served as editor of the first book on clinical aspects of Rett syndrome, and he is currently the Pediatric Neurology Editor for Current Neurology and Neuroscience Reports, and a member of the editorial board of Brain Sciences.
Charles Large, PhD is a founder and the Chief Executive Officer of Autifony Therapeutics Limited, a privately owned biotech dedicated to the discovery and development of treatments for rare disorders of the CNS, such as Fragile X Syndrome and Amyotrophic Lateral Sclerosis. Dr Large was previously Director of Molecular and Cellular Biology within the Neuroscience Centre of Excellence for Drug Discovery at GlaxoSmithKline, and has over 20 years of experience in drug discovery. He is an expert on drugs that modulate voltage-gated ion channels and the therapeutic potential of ion channel modulators in neurological and psychiatric disease. Dr Large is also the Chairman of the Board of Teitur Trophics, a Danish biotech company developing novel treatments for Huntington’s Disease.
Dr. Richard Soll is presently Senior Advisor, Strategic Initiatives for the Research Service Division at WuXi AppTec and Head of the WuXi office in Boston, Massachusetts. He has held various leadership roles at WuXi as Senior Vice President including head of the medicinal chemistry unit known as the International Discovery Service Unit, business development, and corporate alliances.
Dr. Soll’s contributions led to the discovery of the HCV NS5A inhibitor elbasvir (a component of Zepatier®) in the Merck-WuXi partnership, the JAK2 inhibitor fedratinib at TargeGen which formed the basis of the $7B partnership between Celgene and Impact Biomedicines, and more than 10 other clinical stage drugs throughout his career.
Dr. Soll is currently a board member at Simcha Therapeutics, an board observer at the Accelerator Life Science Parnters, and an advisory board member with the Blavatnik Center for Drug Discovery at Tel Aviv University, the Children’s Tumor Foundation, and the Pistoia Alliance.
Dr. Soll was CSO / VP of R&D at TargeGen and was VP of Chemistry at 3-Dimensional Pharmaceuticals. He started his career at Ayerst Research Labs and was trained as a synthetic chemist at Dartmouth and Harvard.
Dr. Tranfaglia serves as Medical Director and Chief Scientific Officer of FRAXA, coordinating the Foundation’s research strategy and working with university and industry scientists to develop new therapeutic agents for Fragile X, autism, and related developmental disorders. He graduated from Harvard University with a BA in Biology and studied medicine at the University of North Carolina at Chapel Hill. After obtaining his MD, he stayed at UNC for Psychiatry residency training, and then entered private practice in 1991 in Newburyport, MA. Mike had specialized in the treatment of Anxiety Disorders prior to his son’s Fragile X diagnosis in 1992 and before he and his wife founded FRAXA in 1994.
Dr. Sonenberg received his Ph.D. in Biochemistry from the Weizmann Institute of Science in 1976. He joined the Roche Institute of Molecular Biology in Nutley, New Jersey as a postdoctoral fellow with Aaron Shatkin. In 1979 he moved to Montreal to become a Professor in the Department of Biochemistry at McGill University. For his research he received, among many others, the Wolf Prize in Medicine in 2014. He is elected member of The Royal Society of London; he is Associate Member of the EMBO, and International Member of the National Academy of Sciences and of Medicine, USA.
Dr. Sonenberg studies the molecular basis of the control of protein synthesis in eukaryotic cells and its importance in diseases such as cancer, obesity, diabetes and neurological diseases. He made seminal discoveries demonstrating that control of translation initiation is implicated in cancer, learning and memory, autism and fragile X-syndrome. Sonenberg and his colleagues have studied the factors that recruit ribosomes to the mRNA. He discovered the Internal Ribosome Entry Site (IRES) mechanism of translation initiation in eukaryotes, and the regulation of cap-dependent translation by eIF4E-binding proteins (4E-BPs). The activity of these proteins is controlled by the PI3K/Akt/mTOR signaling pathway. He found that eIF4E is a proto-oncogene, whose protein levels are elevated in tumors. Subsequently, he showed that rapamycin inhibits eIF4E activity. While generating eIF4E binding protein ‘knock-out’ mice, he discovered that the protein plays important roles in metabolism, learning and memory, and innate immunity. He showed that eIF4E is implicated in autism and fragile-X syndrome.
Professor Kind is Director of the Simons Initiative for the Developing Brain at the Patrick Wild Centre for Research into Autism, Fragile X Syndrome (FXS) and Intellectual Disability and Professor of Developmental Neuroscience at the University of Edinburgh. He is also Associate Director at the Centre for Brain Development and Repair (CBDR) at the Institute for Stem Cell Biology and Regenerative Medicine (Instem), Bangalore, India. Professor Kind completed his postdoctoral training with Professor Colin Blakemore at Oxford University and Professor Susan Hockfield at Yale University. Professor Kind received his PhD from Oxford University in 1993. He joined the University of Edinburgh in 2020.
The Kind laboratory examines the cellular dysfunction associated with monogenic forms of moderate to severe neurodevelopmental disorders, with particular focus on Fragile X Syndrome. The laboratory focuses on synaptic function, from the physiological and morphological alterations to the behavioural phenotypes associated with mouse and rat models of these disorders. We also test two further hypotheses: 1) that distinct genetic causes of ID/ASD convergence on common biochemical and cellular pathologies associated that may be amenable to similar therapeutic approaches. 2) that different monogenic forms of ID/ASD can be stratifield have different critical periods for effective therapeutic intervention.
Shona Chattarji received his Master’s degree in Physics from the Indian Institute of Technology, Kanpur. He then went on to do a Ph.D. in Neuroscience from Johns Hopkins University and Salk Institute. After post-doctoral research at Yale University and MIT, he started his own laboratory at the National Centre for Biological Sciences, Bangalore, India in 1999. His laboratory studies how Fragile X Syndrome and stress-related psychiatric disorders change neurons and their connections in the amygdala, thereby triggering the emotional symptoms seen in these brain disorders. Prof. Chattarji was awarded the International Senior Research Fellowship by The Wellcome Trust and the Vision 2008 Award by the Fragile X Research Foundation. He is a Fellow of the Indian Academy of Sciences, a member of the Simons Initiative for the Developing Brain at the University of Edinburgh, and a member of EMBO.
I joined the Galton Laboratory as an undergraduate during which time I was involved in research projects relating to evolutionary genetics and the developmental genetics with Professor Steve Jones. I went on to do a PhD on the neurodevelopmental genetics of spina bifida, at the Institute of Child Health (UCL/GOSH), supervised by Professor Andrew J. Copp. In particular, we were investigating the role of the Protein Kinase C family of genes, and disease phenotypes relating to mutations in these genes in mouse and humans. Following that I became an independent fellow at the Institute of Child Health (UCL/GOSH) in the field of neurodevelopmental rare diseases. I have over 20 years of experience in drug discovery. As the Director of the Biomedicine Division at Fraunhofer-Gesellschaft Research Laboratories, I led several programs on neuroinflammation and rare diseases to the pipeline of different Pharma Corporations.
I am also the director of FRAXA-DVI a FRAXA supported facility dedicated to disease target identification and drug development in FXS. I also work in Pitt Hopkins Syndrome and other forms of Autism.
I am currently an Associate Professor at the Departments of Genetics, IEB, Faculty of Science, University of Chile, Chile and Honorary Research Fellow in the Center for Neural Circuit Mapping, UCI, School of Medicine, University of California, Irvine, USA.
I am a scientific consultant for several pharmaceutical companies.