Scientific Advisory Board
The Scientific Advisory Board’s role is to advise CCC’s board of directors on strategic initiatives that support the mission of CCC. Led by Dr. Gemma Carvill, the SAB is comprised of leading scientists and clinicians around the United States. Their duties include reviewing and advising research grant applications and proposals, meeting annually to discuss the landscape of CHD2 research, and providing expert opinions about the direction of CCC's research program. We gratefully acknowledge their time and dedication to CCC's mission.

Matthew Fuller, PhD
Matthew Fuller, PhD, is Vice President – Head of Gene Therapy Research at Ultragenyx, leading execution of program and platform research to continually optimize and invest in Ultragenyx’s gene therapy platforms and programs. Matthew has contributed to the development of 8 rare disease gene therapy programs, including 4 currently in clinical trials, and is co-inventor on 7 patents related to gene therapy. Matthew serves on the FNIH Bespoke Gene Therapy Consortium Steering Committee, as a member of the scientific advisory board for the Coalition to Cure CHD2, as a member of the scientific advisory board for the Myhre Syndrome Foundation, as a member of the scientific advisory board for IDefine, and as chief scientific advisor for the Cohen Syndrome Research Foundation. Matthew also serves on the Education Committee and the Patient Outreach Committee for the American Society for Gene and Cell Therapy. Matthew is also serving his 3 rd term as an elected official of the Board of Health in Millis, Massachusetts.
Matthew earned a PhD in microbiology from the University of Missouri – Columbia studying host-cell interactions of autonomous Parvoviruses with Dr. David Pintel, and a MSPH in Public Health with a focus in Tropical Medicine from Tulane University.

Charuta Joshi MBBS, FAES
Dr. Charuta Joshi is a clinical professor at UTSW- Dallas Children's Hospital. She is board certified in clinical neurophysiology (Canada), neurology with special certification in child neurology (USA and Canada), and Epilepsy (USA).
She received her pediatric neurology training at the New York Presbyterian Hospital in New York City and did an epilepsy fellowship at Wayne State University, Children’s Hospital of Michigan.
Her main interests are medically intractable epilepsy, health care costs, telemedicine, epileptic encephalopathy, epilepsy surgery, and the ketogenic diet. She is currently doing clinical research in epileptic encephalopathies and the ketogenic diet and is also involved in pharmaceutical trials using new drug therapies in intractable epilepsies. She has also been involved in and practiced telemedicine since 2001, initiated the telemedicine program in Iowa and invested in the telemedicine program while she was at Children's Hospital Colorado.
She has also serves on various AES committees including the Pediatric Content committee, Treatments committee, Chair of the Children's Hour and is a member of PERC since its inception. Additionally, she has participated closely in the following or led the following special interest groups which includes Infantile Spasms SIG, Doose SIG, Telemedicine SIG, Sunflower Syndrome SIG and Disparities SIG.

Kelly Knupp, MD, MSCS, FAES
Kelly Knupp is an Associate Professor of Pediatrics and Neurology at the University of Colorado. She received her medical degree from the University of New Mexico - School of Medicine, completed her residency in Pediatrics at Children’s Hospital of New York followed by Pediatric Neurology Residency at Columbia University at Children’s Hospital of New York. After her residency, she trained as a Clinical Fellow in Pediatric Epilepsy at the Columbia Comprehensive Epilepsy Center at New York Presbyterian Hospital.
Dr. Knupp now practices at Children’s Hospital Colorado in Aurora, CO. and is the Associate Research Director of Neuroscience Institute and Director of the Dravet Program and Co-Interim Section Chief. Her interests are epileptic encephalopathies including Dravet Syndrome and infantile spasms. She was a founding member of the Pediatric Epilepsy Research Consortium and continues on the steering committee. This group focuses on developing collaborative research across the country for children with epileptic encephalopathies. She also serves on the medical advisory boards of the Epilepsy Foundation of Colorado and the Dravet Syndrome Foundation and the scientific advisory council of Cure Epilepsy.

Christopher McGraw, MD, PhD
Dr. Chris McGraw MD, PhD is a physician-scientist with an interest in epilepsy genetics and the use of animal models to better understand a variety of epilepsy disorders and to identify novel treatments.
Dr. McGraw received his BA in Biochemistry and Cell Biology, magna cum laude, at Rice University in 2004 and he completed a combined MD/PhD program at Baylor College of Medicine (BCM), earning a PhD in Developmental Biology under Dr. Huda Y. Zoghbi, MD in 2012 before graduating in 2014. He completed residency in Adult Neurology at University of California San Francisco (UCSF), where he received a competitive R25 award to study epilepsy in zebrafish with Dr. Scott Baraban PhD. He completed an Adult Epilepsy Fellowship at Massachusetts General Hospital (MGH) in 2020. He is currently an Instructor at MGH and Harvard Medical School (HMS), and serves as an Adult Epileptologist on the MGH Epilepsy Service and in the Herscot Center for Tuberous Sclerosis Center at MGH. He continues to pursue basic science research in zebrafish through the Epilepsy Genetics Program at Boston Children's Hospital (BCH) with Dr. Ann Poduri, MD, MPH. Dr. McGraw is site PI for the Epilepsy Learning Healthcare System (ELHS) at MGH, a multi-center initiative to improve the quality of care for patients with epilepsy. His work is supported by an NINDS K08 Career Development Award to develop a zebrafish model of myoclonic astatic epilepsy due to mutations in SLC6A1 and to develop an in vitro assay for positive modulators of SLC6A1. He is also supported by a CURE Taking Flight Award to identify modifiers of seizure susceptibility in zebrafish as targets for novel anti-epileptic drug development.

Heather Mefford, MD, PhD
Heather Mefford is a physician scientist and Member in the Center for Pediatric Neurological Disease Research at St. Jude Children’s Research Hospital. She completed the MD and PhD in Genetics at University of Washington, after which she completed a Pediatrics residency and Medical Genetics fellowship at UW and Seattle Children’s Hospital. She went on to establish her research program in the genetics of rare pediatric disease at UW, where she remained until moving to St. Jude Children’s Research Hospital in 2021. Her research is dedicated to gene discovery in pediatric neurological diseases, focusing on epilepsies, with the goal to leverage information about genetic etiology to develop precision therapies. Her work helped define the genetic landscape of rare developmental and epileptic encephalopathies using cutting edge genomic technologies. Using engineered and patient-derived cells, her group develops cellular models of genetic epilepsy for characterization and testing potential targeted therapies. She is a scientific advisor for several patient advocacy groups, co-chairs the ClinGen Neurodevelopmental Disorder Clinical Domain Working Group and Epilepsy Gene Curation Working Group, was co-PI for the Epi4K Consortium, and is Secretary of the Board for the American Society of Human Genetics.