Editorial Board — Medscape Rare Diseases

Board Members

 

Board Member Details

Stephanie L. Austin, MS, MA
Stephanie L. Austin, MS, MA

Stephanie L. Austin, MS, MA, is a certified genetic counselor. She is a member of the glycogen storage disease team at Duke University Medical Center, led by Dr Priya Kishnani. Her research interests include the use of whole-body MRI to characterize disease and the involvement of the bulbar muscles in Pompe disease and glycogen storage disease III.

Stephanie L. Austin, MS, MA, has disclosed the following relevant financial relationships:
Serve(d) as a director, officer, partner, employee, advisor, consultant, or trustee for: GeneDx
Serve(d) as a speaker or a member of a speakers bureau for: Genzyme Sanofi
Received income in an amount equal to or greater than $250 from: Genzyme Sanofi

Priya S. Kishnani, MD
Priya S. Kishnani, MD

Professor of Pediatrics, Division Chief for Medical Genetics, Duke University Medical School, Durham, North Carolina

Priya S. Kishnani, MD has disclosed the following relevant financial relationships:
Serve(d) as advisor, consultant, invited speaker, or member for: Genzyme-Sanofi; Amicus Therapeutics; Synageva; Alexion; Shire Pharmaceuticals; PCORI Rare Disease Task force; Association for Glycogen Storage Diseases scientific advisory board; ACMG guidelines committee; Down Syndrome Medical Interest Group, USA; Clinical advisory board for National Down Syndrome Society (NDSS); National Governmental Affairs Committee (NGAC); India Charitable Access Program (INCAP) Rare Diseases advisory board; DSMB for PTC Therapeutics
Received consultant/honoraria fees from: Genzyme-Sanofi; Shire Pharmaceuticals; Amicus; Synageva; Pfizer, Roche, Alexion Pharmaceuticals
Received research grants from: Genzyme-Sanofi; Valerion Therapeutics; NIH; Alexion Pharmaceuticals; Shire; Pfizer
Received income in an amount equal or greater than $250 from: Genzyme-Sanofi; Shire Pharmaceuticals; Amicus; Synageva; Pfizer, Roche, Alexion Pharmaceuticals; ISIS, PTC

Marshall L. Summar, MD
Marshall L. Summar, MD

Professor, Department of Pediatrics, George Washington University School of Medicine and Health Sciences; Division Chief, Genetics and Metabolism; Margaret O'Malley Chair of Molecular Genetics, Children's National Medical Center, Washington, DC

Marshall L. Summar, MD, has disclosed no relevant financial relationships.