Scientific Advisory Board

Professor Nadav Ahituv

Nadav Ahituv is a Professor in the Department of Bioengineering and Therapeutic Sciences and the Institute for Human Genetics at the University of California, San Francisco. He received his PhD in human genetics from Tel-Aviv University working on hereditary hearing loss. He then did his postdoc, specializing in functional genomics, in the Lawrence Berkeley National Laboratory and the DOE Joint Genome Institute. His current work is focused on identifying gene regulatory elements and linking nucleotide variation within them to various phenotypes including morphological differences between species, drug response and human disease. In addition, his lab is developing massively parallel reporter assays (MPRAs) that allow for high-throughput functional characterization of gene regulatory elements and the use of gene regulatory elements as therapeutic targets.

Christina Gurnett, M.D., Ph.D

Christina Gurnett, M.D., Ph.D., is the A. Ernest and Jane G. Stein Professor of Neurology and the head of the Division of Pediatric and Developmental Neurology at Washington University in St Louis, and the Chief of Neurology at St Louis Children’s Hospital. She completed MD/PhD degrees at the University of Iowa, followed by Pediatric Neurology and Neurophysiology fellowship training at Washington University in St Louis. Dr. Gurnett has an active research laboratory whose focus is understanding the etiology of neurogenetic disorders. She has extensive leadership experience, including Co-Director of the Intellectual and Developmental Disabilities Research Center and Associate Director of the Institute of Clinical and Translational Science at Washington University.

Jennifer Bain, MD, PhD

Jennifer Bain, MD, PhD, is an assistant professor of neurology and pediatrics at Columbia University Medical Center. Dr. Bain completed both M.D. and PhD. as well as general pediatrics residency at Rutgers – New Jersey Medical School in Newark, New Jersey. She then trained in Child Neurology at New York Presbyterian – Columbia University Medical Center in New York City and is a board-certified neurologist with special certification in Child Neurology. Her early research career focused on spinal cord and brain development after injuries such as spinal cord injury and perinatal hypoxic ischemic encephalopathy. She currently works as a physician scientist at Columbia University specializing in general pediatric neurology with expertise in development, behavioral neurology and autism. Her clinical research has focused on studying the genetics of neurodevelopmental disorders including autism and cerebral palsy. The genes she has worked closely on include HNRNPH2 and related disorders, GRIN disorders, KIF1A and she is eager to collaborate on other genetic disorders such as MED13L. She is interested in understanding clinically meaningful measures in families affected by neurodevelopmental disorders and measuring longitudinal trajectories in such disorders. She has been working closely with several patient advocacy groups, researchers, and Simons Searchlight to continuously move forward in the understanding of the developing brain.

Wendy Chung, M.D., Ph.D.

Wendy Chung, M.D., Ph.D. is a clinical and molecular geneticist and the Kennedy Family Professor of Pediatrics in Medicine and Director of Clinical Genetics at Columbia University. Dr. Chung directs NIH funded research programs in human genetics of pulmonary hypertension, breast cancer, obesity, diabetes, 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 and the National Organization of Rare Disorders Center of Excellence at Columbia University. She was the recipient of 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 received her B.A. in biochemistry from Cornell University, her M.D. from Cornell University Medical College, and her Ph.D. from The Rockefeller University in genetics

Reza Asadollahi, MD, PhD

Reza Asadollahi is an MD, PhD and medical geneticist affiliated to the Institute of Medical Genetics, University of Zurich. His area of expertise is genotype-phenotype correlation with a focus on neurodevelopmental disorders. His work in collaboration with colleagues and patient families has led to the discovery of multiple novel morbid genes causing neurodevelopmental disorders (including MED13L syndrome), and clinical and mutational spectra of the disorders. His research also focuses on molecular and cellular phenotyping in patient-derived cells to unravel the underlying disease mechanisms for developing diagnostic and therapeutic approaches.

Chad Grueter, Ph.D.

Chad Grueter, Ph.D. is an Associate Professor at the University of Iowa Carver College of Medicine. Dr. Grueter received his Ph.D. in molecular physiology and biophysics from Vanderbilt University followed by a postdoctoral fellowship at the University of Texas Southwestern medical center. His lab utilizes mouse models to study the molecular actions of the Mediator kinase submodule including MED13L.

Randy Strich, Ph.D.

Dr. Randy Strich received his Ph.D. from the University of Illinois in Microbiology. Following his postdoctoral studies at the University of Chicago, he accepted a position at the Fox Chase Cancer Center in Philadelphia. From there he moved to Rowan University School of Osteopathic Medicine where he is currently a Professor in the department of Molecular Biology.

Koh-ichi Nagata, M.D., Ph.D.

Dr. Koh-ichi Nagata, M.D., Ph.D. is the Vice President and Department Head of Molecular Neurobiology Institute for Developmental Research, Aichi Human Service Center in Kasugai, Japan. He trained in Biochemistry at the Gifu University School of Medicine in Gifu, Japan. His research interests are the pathophysiological mechanism of neurodevelopmental disorders including autism, epilepsy and intellectual disability with a focus on gene abnormalities on brain development which lead to such clinical features.