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Dr. Gregory Costain, MD, PhD, FRCPC, is a physician-scientist who specializes in the diagnosis of rare genetic conditions in children. He joined the Division of Clinical and Metabolic Genetics at SickKids as a staff physician in 2020 after completing his residency training at the University of Toronto. He is also a Scientist-Track Investigator in Genetics and Genome Biology, in the SickKids Research Institute. His lab uses genome sequencing to discover new disease genes and genotype-phenotype associations, in a setting of an undiagnosed paediatric disease program.
Wendy Chung, MD PhD
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.
Louis Dang, M.D., Ph.D is an Assistant Professor of Pediatrics and Neurology at the University of Michigan. As a pediatric neurologist/epileptologist, Dr. Dang has a particular interest in the care of children with severe, treatment-resistant epilepsies. Dr. Dang’s research focuses on understanding how genetic mutations result in epilepsy and neurodevelopmental abnormalities, in order to develop novel gene-directed therapies. Dr. Dang uses 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, he aims to determine the effect of those genetic mutations on neurodevelopmental processes and to uncover novel therapeutic targets.
Dr. Alysson R. Muotri, Ph.D.
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.
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.
Kira received a Master of Science degree in Genetic Counseling in 2003 from the Johns Hopkins Bloomberg School of Public Health/National Human Genome Research Institute. She is board certified by the American Board of Genetic Counseling and a licensed genetic counselor in Massachusetts. Her experience includes serving as Director of the Family Research Network of the Autism Consortium, coordinating multi-site research and family resources. From 2008-2020, she worked at Boston Children’s Hospital in roles including Senior Genetic Counseling Program Manager and co-Director of Clinical Research Operations of the Translational Neuroscience Center, managing clinical research programs in Neurogenetics and providing clinical genetic counseling for patients in the Neurology department. In January 2021, she was promoted to become the Executive Director of the new Rosamund Stone Zander Translational Neuroscience Center at Boston Children’s Hospital. Additionally, since 2006, she has served as a coordinator of the Research Seminar Series, aiding in the development of student thesis projects, at Boston University School of Medicine Genetic Counseling graduate program. She serves on the Board of Directors for the CureAP4 advocacy organization, the Professional Advisory Board for the Tuberous Sclerosis Alliance, the Clinical Ethics Board and Neuroscience Family Advisory Council at BCH. She has numerous publications regarding genetic susceptibility to autism and tuberous sclerosis complex as well as social issues in genetic counseling.
Tess Levy, CGC is a genetic counselor and clinical trials manager at the Seaver Autism Center for Research and Treatment at the Icahn School of Medicine at Mount Sinai. She received both her B.Sc in cognitive science and MSc. in genetic counseling from McGill University. Tess’ research focus is on rare genetic neurodevelopmental disorders including DDX3X syndrome, ADNP syndrome, FOXP1, syndrome, and Phelan-McDermid syndrome.
Jannine De Mars Cody
Jannine De Mars Cody, PhD is a Professor of Genetics in the Department of Pediatrics at the University of Texas Health at San Antonio. In 1990, Jannine founded the Chromosome 18 Registry and Research Society as a way to bring affected families together and to learn from each other. This action was prompted by the diagnosis of her daughter Elizabeth with a deletion of chromosome 18q (18q-). In 1997, Jannine earned a Ph.D in human genetics at University of Texas Health San Antonio. While pursuing her Ph.D., she developed the multidisciplinary Chromosome 18 Clinical Research Center, the goal of which is to make the chromosome 18 conditions the first completely treatable chromosome abnormalities. The Center’s research ranges from the molecular biology of the conditions, to the clinical consequences, to the psychosocial ramifications for the affected individual, the parents and the siblings. This work is primarily funded by the families of the Chromosome 18 Registry and has generated over 60 peer-reviewed publications. In an effort to encourage federal support for research into chromosome abnormalities, Jannine has testified twice before the US Congress and has served on a variety of national committees and organizations related to genetics.
Tony Wynshaw-Boris received his MD, PhD degrees from Case Western Reserve University School of Medicine. His PhD was under the direction of Richard Hanson, PhD, where he elucidated the sequences within the PEPCK promoter required for activation by cAMP and glucocorticoids. </div><div><br></div><div>He did his residency at Rainbow Babies and Children's Hospital, in Pediatrics followed by a medical genetics fellowship at Boston Children's Hospital. While in Boston, he did a postdoctoral fellowship at Harvard Medical School under the direction of Philip Leder, MD, where he studied mouse models of developmental disorders. </div><div>In 1994, Dr. Wynshaw-Boris set up an independent laboratory at the National Human Genome Research Institute of the NIH, where he initiated a program using mouse models to study human genetic diseases, with a focus on neurogenetic diseases. In 1999, he moved to UCSD School of Medicine, where he became Professor of Pediatrics and Medicine, as well as Chief of the Division of Medical Genetics in the Department of Pediatrics. </div><div><br></div><div>In 2007, he moved to UCSF School of Medicine, where he was the Charles J. Epstein Professor of Human Genetics and Pediatrics, and the Chief of the Division of Medical Genetics in the Department of Pediatrics. At UCSF, in addition to mouse models, his laboratory began to use patient-derived induced pluripotent stem cell (iPSC) models to study human disease. In June 2013, he returned to Cleveland to become the Chair of the Department of Genetics and Genome Sciences. His laboratory continues to use mouse and iPSC models to shed light on mechanisms of neurogenetic diseases with the ultimate goal of providing novel therapies. </div><div>Dr. Wynshaw-Boris was President of the American Society for Human Genetics for 2020, and is now Past President in 2021. He was appointed to the National Advisory Child Health and Human Development Council of the Eunice Kennedy Shriver National Institute of Child Health & Human Development, National Institutes of Health, in 2019. He has also been elected to membership in the American Society for Clinical Investigation, the Association of American Physicians, the American Pediatric Society, and he was elected as Fellow of the American Association for the Advancement of Science.
Stormy is the John and Donna Krenicki Professor of Genomics and Personalized Health Care and and Associate Professor of Genetics and Genome Sciences at the UConn Health. She has a B.A. degree in Molecular Biology from Princeton University and a Ph.D. in Genetics from the University of Florida. She performed post-doctoral research at the University of North Carolina-Chapel Hill and UConn Health prior to joining the faculty at UConn Health. Her lab uses human induced pluripotent stem cells (iPSCs) to understand gene regulation underlying Angelman, Prader-Willi, and 15q duplication syndromes.
Dr. Dennis Lal’s home institution is the Cleveland Clinic, US where he has an appointment at the Genomic Medicine Institute (Learner Research Institute), with an appointment at the Epilepsy Center (Neurological Institute). He is also a visiting Scientist at the Broad Institute of MIT & Harvard, US and leads a research group at the University of Cologne, Germany. The Lal Research group focuses on the discovery, evaluation, and translation of biomarker into clinical care. Specifically, they aim to develop computational methods which integrate large genetic, genomic, clinical and biological data sets to improve the prediction of patient outcomes - paving the way for personalized medicine
Karun Singh completed his undergraduate studies at McMaster University in Canada and a Ph.D. at the University of Toronto. He then performed postdoctoral studies at the Massachusetts Institute of Technology (MIT) before joining McMaster University where he was a Scientist and the Neural Program Lead at the Stem Cell and Cancer Research Institute. His lab moved in 2020 to the Krembil Research Institute at the University Health Network (Toronto), and the University of Toronto. His lab utilizes mouse and patient-derived neural stem cell models to study brain development and vision disorders, taking a genetic perspective to study disease. The long-term goal is to utilize these platforms to develop new therapeutics for brain development disorders.
Alycia Halladay is the Chief Science Officer for the Autism Science Foundation, where she oversees the scientific activities, grants, and initiatives of ASF. The Autism Science Foundation focuses on investments in early career researchers to both improve scientific discovery while training the next generation of scientists using cutting edge technologies. These awards include pre- and post-doctoral fellowships, undergraduate awards, COVID-19 research grants, the Autism Sisters Project, the Baby Siblings Research Consortium and the Alliance for the Genetic Etiologies of Neurodevelopmental Disorders and Autism. In addition, the Autism Science Foundation provides outreach and communication support to the Autism BrainNet, helping to explain the importance of this program to families and individuals with ASD. She also produces a weekly podcast aimed specifically at explaining scientific information to the public. Prior to joining ASF in 2014, she served as the Senior Director of Clinical and Environmental Sciences at Autism Speaks. There, she helped lead the “Early Access to Care” Initiative, which aimed to lower the age of diagnosis for autism and improve access to evidence based services. She also managed the environmental science portfolio and the worked closely with events to communicate science to the public. She has authored over two dozen peer reviewed papers in science journals. Alycia also serves as the President of the Board of Directors for the Phelan McDermid Syndrome Foundation. She received a PhD in biopsychology from Rutgers in 2001 and completed a postdoctoral fellowship in pharmacology and toxicology at the University of Medicine and Dentistry of NJ in 2004. She still holds a faculty appointment at Rutgers.She has a 10 year old daughter with ASD.
Vanessa grew up on a family dairy farm in rural Wisconsin; she then went on to college at the University of Minnesota-Twin Cities, where she studied Chemistry, Biology and French. While there she joined a research lab at the Center for Neurobehavioral Development. This experience got her interested in the processes associated with brain development during the neonatal period into adolescence and that factors that can affect normal development. She was the Clinical Research Coordinator for the Division of Developmental Medicine Laboratory of Cognitive Neuroscience, Boston Children’s Hospital, working on collaborations with scientists from MIT and Harvard examining several clinical populations, including autism. She also served as Director of Operations of ACEing Autism from 2008 through 2015. She is married and the mother of 3 young boys (Oliver, Thatcher and Carter) who keep her very busy in her "spare" time.
My background is in neuronal cellular reprogramming and developmental neurobiology. I am currently the Director of Translational In Vitro Modeling in the Rosamund Stone Zander Translational Neuroscience Center at Boston Children’s Hospital. Within this role, I lead the Human Neuron Core, which utilizes human iPSC-derived neurons to model neurodevelopmental disorders and a Biorepository aimed at collection, storage, and dissemination of primary human brain tissue. These cores were established to contribute to the standardization and implementation of iPSC-derived neuron technology as well as to foster collaborative projects with academic, non-profit, and for-profit groups to identify novel therapeutics for neurodevelopmental disorders. I completed my postdoc in 2016 in Clifford Woolf's lab in the Kirby Neurobiology Center at Boston Children's Hospital. During my postdoc I worked to develop protocols for differentiating sensory neurons from iPSCs and fibroblasts. I then used these neurons to develop assays for chemotherapy induced neuropathy and chronic pain. Prior to my postdoc, I completed my PhD in 2012 in the lab of Manzoor Bhat at the University of North Carolina. My thesis focused on studying the organization and maintenance of molecular domains in myelinated axons. My BS degree comes from the University of Richmond where I graduated in 2006, having majored in Biochemistry and Molecular Biology.
Heather Medford is physician scientist trained in pediatrics and genetics. She is currently a Full Member in the Center for Pediatric Neurological Disease Research at St. Jude Children’s Research Hospital. She runs a research laboratory dedicated to gene discovery in pediatric disease, with a major focus on pediatric epilepsies. Her work uses cutting edge genomic technologies and has helped define the genetic landscape of epileptic encephalopathies with studies reporting novel copy number variants and numerous novel disease-causing genes. She identified and characterized several novel deletion and duplication syndromes due to recurrent CNVs. She was a co-PI for several of the Epi4K consortium projects and co-chairs the ClinGen Neurodevelopmental Disorder Clinical Domain Working Group and Epilepsy Gene Curation Working Group.
Matthew completed his PhD at the University of California, Santa Barbara where he studied the effects of the 7q11.23 deletion underlying Williams Syndrome using induced pluripotent stem cells (iPSCs). He then pursued post-doctoral training at Washington University in St. Louis where he developed high-throughput genomics methods to study genes implicated in neurodevelopmental disorders including autism and intellectual disability. He is currently an Instructor at the Seaver Autism Center for Research and Treatment Icahn School of Medicine at Mount Sinai. Here, he plans to apply his technological approach to discover the functional mechanisms of the leading causes of autism and related neurodevelopmental disorders.
Glennis Logsdon is a postdoctoral fellow in Evan Eichler's laboratory at the University of Washington. She received her Ph.D. in Biochemistry and Molecular Biophysics from the University of Pennsylvania in 2018 and her B.A. in Biochemistry from the University of Pennsylvania in 2011. She is currently leading the effort to sequence and assemble genomes from affected individuals using long-read DNA sequencing technologies.
I completed my PhD in human genetics from the Medical College of Virginia, Virginia Commonwealth University, under Professor Sarah Elsea (now at Baylor College of Medicine). My doctoral thesis was focused on characterizing causative genes within the 17p11.2 deletion, associated with Smith-Magenis syndrome. I performed my postdoctoral training from the University of Washington with Professor Evan Eichler. Here, I continued my work on understanding the genetic architecture contributing to the formation of copy-number variants. I was involved in publications on global surveys of CNVs in disease and control populations, as well as the exome studies of autism. In my current lab at Penn State, we are using human genetics, model systems, and bioinformatics approaches to identify the genetic causes of neurodevelopmental disorders, with a particular focus on understanding the disease-causing and modifying roles of genetic mutations.
In 2018, Bina founded Project 8p Foundation to accelerate research with the goal of treatment for chromosome 8p heroes like her daughter Karina. Since then, she has fully committed herself to the advancement of clinical and research understanding of rare disorders, in particular neurodevelopmental chromosomal disorders such as the 8p rearrangements. Shifting perspectives from disease specific efforts to innovative approaches that are gene-agnostic and cross disorder is a long term scalable vision of hers. As a result, she is the founding partner of the Commission on Novel Technologies for Neurodevelopmental Copy Number Variants (CNVs). Her family resides in New York City where Bina earned her B.S. in Finance & Marketing from NYU Stern Business School as well as her M.B.A. from Columbia University. She has over 15 years of experience in finance in the areas of mergers and acquisitions, private and public equity investing, real estate development, and property management. Bina leverages her business and entrepreneurial background and network to build bridges to improve efficiencies in a Collaborative Impact model for Team Science.
Yssa De Woody
Yssa DeWoody, PhD, is the Co-founder and Director of Ring14 USA, a non-profit focused on improving the quality of life for those impacted by anomalies on the 14th chromosome through research, advocacy, and community support. This work is a labor of love motivated by her third daughter, Marie, who was born with the ultra-rare Ring Chromosome 14 Syndrome which is characterized by early onset intractable epilepsy, global developmental delays, intellectual disabilities and a host of other challenges.
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