SCIENTIFIC ADVISORY BOARD

Gemma Carvill, PhD

Chair 

Heather Mefford, MD, PhD

John Millichap, MD, 
FAAN, FAAP, FACNS, FAES

Catherine J. Chu, MD, MA, M.M.Sc.

Kelly Knupp, MD,

MSCS, FAES

Christopher McGraw, MD, PhD

Theresa Grebe, MD

Julie Milder, PhD

Charuta Joshi MBBS, FAES

 

Gemma Carvill, PhD

Gemma Carvill is an Assistant Professor in the Department of Neurology at Northwestern University Feinberg School of Medicine in Chicago, IL. Dr. Carvill performed her postdoctoral work in the laboratory of Dr. Heather Mefford at the University of Washington where she used genomic sequencing approaches to identify novel genetic etiologies in the pediatric epilepsies, including CHD2. Her lab at Northwestern uses genomic technologies to define the molecular basis of epilepsy, including coding and non-coding variants, as well as the development of novel DNA-based biomarkers. Her group also uses patient-derived stem cell models to study how rare variants in genes involved in epigenetic mechanisms cause epilepsy. Gemma is a recipient of a NIH Pathway to Independence Award in 2014 and the NIH Innovator’s award in 2018. Her independent research was made possible by early career awards from Citizens United for Research in Epilepsy (CURE), the American Epilepsy Society (AES) and the Dravet Syndrome Foundation (DSF).

Heather Mefford, MD, PhD

 

Heather Mefford is a Professor of Pediatrics and Genetic Medicine at the University of
Washington and attending physician at Seattle Children’s 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 has performed
similar studies in other pediatric neurologic and neurodevelopmental disorders. She was
a co-PI for several of the Epi4K consortium projects, co-chairs the ClinGen
Neurodevelopmental Disorder Clinical Domain Working Group and Epilepsy Gene
Curation Working Group, and is Deputy Director of the Brotman Baty Institute for
Precision Medicine in Seattle. She will moving to St. Jude Children’s Research Hospital in
2021 where she will continue her research as part of the Center for Pediatric
Neurological Disease Research.

Dr Millichap is a pediatric epileptologist at Ann & Robert H. Lurie Children's Hospital of Chicago and Associate Professor of Pediatrics and Neurology at Northwestern University Feinberg School of Medicine. Clinical practice utilizes a multidisciplinary team approach to the diagnosis and treatment of pediatric epilepsy and comorbidities. Dr. Millichap has over 60 peer-reviewed medical publications and serves as the Editor of Pediatric Neurology Briefs. As a member of the academic faculty of Northwestern University, he is involved in the education of trainees and grant-funded clinical research concerning epileptic encephalopathies and epilepsy genetics.

Catherine Chu, M.D., M.A., M.M.Sc.

Dr. Catherine Chu completed her medical training at Harvard Medical School and her child neurology and neurophysiology fellowships at Massachusetts General Hospital (MGH). She also completed graduate training in medical anthropology at Harvard University and clinical investigation at Harvard Medical School. Clinically, Dr. Chu specializes in pediatric epilepsy surgery and serves as Director of the neonatal and pediatric EEG long term EEG monitoring service and the high-density EEG service at MGH. Dr. Chu directs a productive, federally funded translational research lab focused on electrophysiological data analysis and biomarker discovery in epilepsy.

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.

Theresa Grebe, MD

John Millichap, MD, FAAN, FAAP, FACNS, FAES

 
 
 
 
 

Dr. Theresa Grebe is a clinical geneticist in the Division of Genetics and Metabolism at Phoenix Children’s Hospital. She is Medical Director of the 22q Clinic at PCH, serves as the geneticist on the Barrow Craniofacial Center Team, as well in the Congenital and Genetic Skin Disorders Clinic and the Arthrogryposis Clinic at PCH. She has a particular interest in neuro-genetic disorders and evaluates children for genetic causes of epilepsy and autism.
Dr. Grebe received her medical training at the Pennsylvania State University College of Medicine and completed her pediatric training in the Phoenix Hospitals Affiliated Pediatric Program, where she also served as chief resident. She was a Flinn Foundation Scholar during her medical genetics fellowship with the University of Arizona College of Medicine and St. Joseph’s Hospital. She is Clinical Professor in the Department of Child Health at the
University of Arizona College of Medicine, Clinical Professor of Pediatrics at Creighton University School of Medicine and on the faculty of Mayo Clinic College of Medicine in Arizona.


Dr. Grebe is involved in both clinical and laboratory research, and has presented at national meetings and coauthored over 40 articles on genetic conditions, including Cystic fibrosis, 22q11.2 deletion, Pallister-Hall, Cardio-Facio-Cutaneous, Prader-Willi, Williams and Noonan syndromes. Dr. Grebe is a member of the American College of Medical Genetics and
Genomics and currently serves as the Chair of the Social, Ethical and Legal
Issues Committee. She is certified in clinical genetics by the American Board
of Medical Genetics.

Julie Milder, PhD

Julie Milder, PhD is currently a Senior Manager of US Medical Affairs at Greenwich Biosciences. She studied biology and neuroscience at Washington University in St. Louis before obtaining a PhD in neuroscience from the University of Colorado, Denver. In between undergraduate and graduate school, she worked as a 6th grade teacher in the inner city of St. Louis with AmeriCorps and then did Alzheimer’s research full-time while applying to graduate school. The focus of her PhD work was understanding some of the mechanisms by which the ketogenic diet works as an anticonvulsant therapy in pediatric epilepsy. This work ignited a passion for epilepsy which she has continued to follow for the past 15 years, including into her current role. Following graduate school, Dr. Milder relocated to Chicago and worked for nearly 6 years as a research director for the largest private funder of epilepsy research, CURE Epilepsy. She joined Greenwich in 2017, as a member of the
company’s first US medical science liaison team and is happy to be based in her hometown of Denver.


Dr. Milder also proudly holds the title of President for the Denver chapter of the Healthcare
Businesswomen’s Association, a global organization to further the advancement and impact of women in the business of healthcare.

Dr. Charuta Joshi is a clinical professor at Children’s Hospital Colorado, Anschutz Medical Campus, and directs the pediatric epilepsy fellowship program there. She is also the director of neurology outreach services. 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 continues to invest in the telemedicine program 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.

 

Charuta Joshi MBBS, FAES