Biographies

Gregory Costain

Hospital for Sick Children

Dr. Costain is a physician-scientist who specializes in the diagnosis of rare genetic conditions in children. He joined the Division of Clinical and Metabolic Genetics as a staff physician in 2020 after completing his residency
training at the University of Toronto. He sees patients with neurodevelopmental and neuropsychiatric issues in his Genetics Clinic at SickKids. He is also a Scientist-Track Investigator in Genetics and Genome Biology, in the SickKids Research Institute. His research program is focused on understanding the causes and consequences of rare variation in the human genome. His lab uses genome sequencing to discover new disease genes and genotype-phenotype associations, in a setting of an undiagnosed pediatric disease program.

 

Wendy Chung, MD PhD

Columbia University

Kennedy Family Professor of Pediatrics and Medicine

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Wendy Chung, M.D., Ph.D. is a clinical and molecular geneticist and the Kennedy Family Professor of Pediatrics and Medicine and Director of Clinical Genetics. She received her B.A. in biochemistry and economics from Cornell University, her M.D. from Cornell University Medical College, and her Ph.D. from The Rockefeller University in genetics. Dr. Chung directs NIH funded research programs in human genetics of pulmonary hypertension, autism, birth defects including congenital diaphragmatic hernia and congenital heart disease. She is a national leader in the ethical, legal, and social implications of genomics. She leads the Precision Medicine Resource in the Irving Institute At Columbia University. She has authored over 500 peer reviewed papers and 75 reviews and chapters in medical texts. She was the recipient of the Medical Achievement Award from Bonei Olam, the NY Academy of Medicine Medal for Distinguished Contributions in Biomedical Science, the Rare Impact Award from the National Organization of Rare Disorders, and is a member of the National Academy of Medicine and the American Academy of Physicians. Dr. Chung enjoys the challenges of genetics as a rapidly changing field of medicine and strives to facilitate the integration of genetic medicine into all areas of health care in a medically, scientifically, and ethically sound, accessible, and cost effective manner.

Louis T. Dang, M.D./Ph.D.

Michigan Medicine

Assistant Professor

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As a pediatric neurologist/epileptologist, I have a particular interest in the care of children with severe, treatment-resistant epilepsies. My research focuses on understanding how genetic mutations result in epilepsy and neurodevelopmental abnormalities, in order to develop novel gene-directed therapies. I use human stem cells to derive neural cultures that model fetal development of the human cortex. By studying human stem cells that contain mutations in epilepsy genes, I aim to determine the effect of those genetic mutations on neurodevelopmental processes and to uncover novel therapeutic targets.

Dr. Alysson R. Muotri, Ph.D.

UC San Diego

Professor

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Dr. Muotri is a professor at the Departments of Pediatrics and Cellular & Molecular Medicine at UC San Diego. He is also the Director of the Stem Cell Program, and Archealization Center. Dr. Muotri earned a BSc in Biological Sciences from the State University of Campinas in 1995 and a Ph.D. in Genetics in 2001 from University of Sao Paulo, in Brazil. He moved to the Salk Institute as Pew Latin America Fellow in 2002 for a postdoctoral training in the fields of neuroscience and stem cell biology. His research focuses on brain evolution and modeling neurological diseases using human induced pluripotent stem cells and brain organoids. He has received several awards, including the prestigious NIH Director’s New Innovator Award, NARSAD, Emerald Foundation Young Investigator Award, Surugadai Award, Rock Star of Innovation, NIH EUREKA Award, Telly Awards among several others.

Rebecca Pollak, Ph.D.

Icahn School of Medicine at Mount Sinai

Postdoctoral Fellow

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I earned my PhD in 2020 from Emory University, under the mentorship of Drs. Jennifer Mulle and Michael Zwick. I am currently a postdoctoral fellow at the Seaver Autism Center at Mount Sinai. My research focuses on using iPSC and iN models to study the functional roles of the intellectual disability and ASD-associated protein DDX3X and the impact of clinically relevant patient mutations.

Allison Watson

Ring 20 Foundation

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I live in the UK and have a 23 year old son, David with Ring Chromosome 20 Syndrome, [r(20)] - an ultra-rare epilepsy syndrome associated with cognitive decline and behaviour issues that doesn’t respond to treatment. Due to a recent career change I now dedicate my time (full-time) volunteering to support patients and their families affected by rare and complex epilepsies. I co-founded the patient support group Ring20 Research and Support UK CIO 6 years ago, to provide mutual support and information on this rare disease to individuals, families and healthcare professionals who are affected by or come into contact with r(20). We currently support over 120 families worldwide and our community is constantly growing, despite the perception that diagnostic rates are likely in decline. There is no recommended treatment for r(20) and with very limited research there has never been a clinical trial; in the absence of clinical practice guidelines patients are often treated on a ‘trial and error’ basis and can suffer unwanted side effects without improvements to seizure control or other co-morbidities. 

I am also deputy EPAG Coordinator for EpiCARE – the ERN for rare and complex epilepsies, working alongside my patient advocacy colleagues across Europe and am a EURORDIS volunteer. It is a privilege to work in the wider community of EPAGs from all ERN’s, as we constantly learn from each other and have much in common. I am passionate about improving outcomes for patients and patient families and am constantly seeking practical solutions and information to help families manage their condition on a day-to-day basis, alongside trying to raise funds for much needed research. 

It is a privilege to be invited to collaborate on this initiative and I look forward to finding new pathways for improved patient outcomes with you all.

We may not have effective treatments TOMORROW, but I believe it is how we live our lives TODAY that matters and how we learn to cope.