The Scientific Advisory Board for CTNNB1 Connect & Cure sets the strategic direction for our funded research on CTNNB1 Syndrome.

Wendy K. Chung, MD, PhD

Chief of the Department of Pediatrics, Boston Children’s Hospital; Mary Ellen Avery Professor, Harvard Medical School; Principal Investigator, Simons Searchlight

Wendy Chung, M.D., Ph.D. is a clinical and molecular geneticist and the Chief of the Department of Pediatrics at Boston Children’s Hospital and Harvard Medical School. 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 was the recipient of 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.

Gerald F. Cox, MD, PhD

Owner, Gerald Cox Rare Care Consulting, LLC; Staff Physician in Genetics, Part-time, Boston Children’s Hospital; Instructor in Pediatrics, Harvard Medical School

Gerry Cox, MD, PhD is a 20-year veteran of the biotechnology industry and a practicing clinical geneticist for over 25 years.  In 2018, he founded Gerald Cox Rare Care Consulting, LLC to assist small biotechnology companies developing drugs for rare genetic diseases.  Dr. Cox has consulted in a number of disease areas, including inborn errors of metabolism, muscular dystrophy, neurological disorders, immunodeficiencies, and complement-mediated diseases, using a number of therapeutic approaches, ranging from small molecules to enzymes, antibodies, oligonucleotides, gene therapies, and genome editing.  Dr. Cox often serves as Chief Medical Officer at companies, providing strategic advice on new disease and drug targets, clinical development pathways, and regulatory interactions, as well as overseeing the company-sponsored clinical trials.  As Chief Medical Officer at CANbridge Pharmaceuticals, the leading rare disease company in China, Dr. Cox played a key role in the regulatory approval of Hunterase® (idursulfase beta), an enzyme replacement therapy for Mucopolysaccharidosis type II (Hunter syndrome) in China in 2020.

Dr. Cox’s introduction to drug development began at Genzyme, where as the company’s first clinical geneticist, he rose to Vice President of Clinical Development for Rare Diseases.  During his 16 years at Genzyme and later at Sanofi Genzyme, he led the clinical development programs of several enzyme replacement and substrate reduction therapies used to treat lysosomal storage disorders that resulted in the regulatory approvals of Aldurazyme® (laronidase) for Mucopolysaccharidosis type I in 2003 (worldwide), Elaprase® (idursulfase) for Mucopolysaccharidosis type II in 2007 (Japan and Asia-Pacific), Cerdelga® (eliglustat) for Gaucher disease type 1 in 2014 (worldwide), and a Cerezyme® (imiglucerase) label expansion for Gaucher disease type 3 in 2016 (China).  He also led the early clinical development programs of Myozyme® (alglucosidase alfa) for Pompe disease, venglustat for Gaucher disease type 3 and late-onset GM2 gangliosidosis (Tay-Sachs and Sandhoff diseases), and olipudase alfa for acid sphingomyelinase disease (Niemann-Pick disease types A and B).

From 2016-2018, Dr. Cox was Chief Medical Officer at Editas Medicine, a CRISPR-based genome editing company, where he oversaw clinical development, regulatory affairs, and scientific communications.  He was the medical lead on the FDA-approved Investigational New Drug Application for the first in vivo delivery of a CRISPR-based medicine, EDIT-101, to treat Leber congenital amaurosis type 10, the most common cause of genetic blindness in children.  

Dr. Cox is a board-certified medical geneticist (clinical, biochemical, and molecular genetics) who continues to teach fellows and see patients on a part-time basis at Boston Children’s Hospital, where he was previously on the full-time staff and completed his pediatrics and genetics training.  He also is an Instructor in Pediatrics at Harvard Medical School.  Dr. Cox received his MD and PhD from the University of California at San Diego in 1989, and a BA in biology magna cum laude from Harvard College in 1980.  He has authored over 85 peer-reviewed publications and written several book chapters and reviews. 

In 2019, Dr. Cox joined the board of directors of the National Tay-Sachs and Allied Diseases patient advocacy organization, and in 2020 he led their strategic research initiative.  He was a founding member of the NIH-sponsored Pediatric Cardiomyopathy Registry, which characterized the epidemiology, causes, and outcomes of cardiomyopathy in infants, children, and adolescents.  Dr. Cox was also a founding member of the Barth Syndrome Foundation, where he served on its Medical and Scientific Advisory Board for many years and recently joined its gene therapy advisory board.

Jennifer M. Bain, MD, PhD

Neurologist at Columbia University Irving Medical Center

Jennifer Bain, MD, PhD, is an assistant professor of neurology and pediatrics at Columbia University Irving Medical Center.  Dr. Bain completed both an MD and PhD. as well as general pediatrics residency at Rutgers – New Jersey Medical School in New Jersey.  She then trained in Child Neurology at New York – Presbyterian / Columbia University Irving Medical Center in New York City and is a board-certified neurologist with special certification in Child Neurology seeing both inpatient and outpatient pediatric neurology patients. Her clinic focuses on diagnosis and management of autism, cerebral palsy and neurodevelopmental disorders in addition to genetic disorders associated with such conditions.

Her early research career focused on spinal cord and brain development after injuries such as spinal cord injury and perinatal hypoxic ischemic encephalopathy.  During her residency training, her clinical research focused on studying autonomic dysfunction in children with autism spectrum disorders and neurological complications during extracorporeal membrane oxygenation. She currently works as a physician scientist at Columbia University specializing in general pediatric neurology with expertise in development, behavioral neurology, autism and cerebral palsy.  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. 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 and aging brain.

Drew H. Scoles, MD, PhD

Adult and Pediatric Retina Specialist, Children’s Hospital of Philadelphia; Assistant Professor of Ophthalmology, Perelman School of Medicine at the University of Pennsylvania

Drew H. Scoles, M.D., Ph.D, is a pediatric and adult retina specialist and assistant professor of ophthalmology at the Children’s Hospital of Philadelphia and the University of Pennsylvania in Philadelphia, Pennsylvania. His clinical expertise includes medical and surgical treatment of retinal disorders in patients from birth through 100+ years. He has a strong interest in improving the understanding and treatment of pediatric vitreoretinopathies through clinical research.

Dr. Scoles received his B.S. and Ph.D in biomedical engineering at the University of Rochester followed by his M.D. at the University of Rochester. He completed ophthalmology residency training at the University of Pennsylvania, followed by vitreoretinal surgery fellowship at Associated Retinal Consultants in Royal Oak, Michigan. He is a board-certified ophthalmologist.