Rare Disease Day

5th Annual Symposium on GNE Myopathy



About the Symposium

Please join us for our 5th Annual Symposium on GNE Myopathy (HIBM), a two-day, fact and fun-filled event including up-to-the-minute information; presentations; panel discussions; and individualized breakout groups for patients, caregivers, scientists, physicians, and industry professionals.       Meals will be provided for all attendees.



Symposium scheduled speakers & panel participants to date:


  • Dr. Madhuri Hegde - V.P. and Chief Scientific Officer, Perkin-Elmer and Adjunct Professor, Emory University
  • Dr. Marjan Huizing - Clinical Project Manager of GNE Myopathy Clinical Studies, NIH
  • Dr. Tahseen Mozaffar - UC Irvine, NDF Board Member and NDFScientific Advisory Committee Member
  • Dr. Carmen Bertoni - Associate Professor, Department of Neurology, UCLA and NDF Scientific Advisory Committee Member
  • Dr. Wayne Grody - Professor in the Department of Pathology & Laboratory Medicine, Pediatrics and Human Genetics, UCLA School of Medicine and NDFScientific Advisory Committee Member
  • Dr. Perry Sheih - Health Sciences Associate Clinical Professor, UCLA School of Medicine; specializing in the diagnosis and the clinical care of rare muscle disease
  • Joseph A. Shrader PT, C.Ped - Senior Clinical & Research Physical Therapist for the National Institutes of Health, DHHS, Rehabilitation Medicine Department, Physical Therapy Section
  • Galen O. Joe, MD - Deputy Chief of the Rehabilitation Medicine Department and Director of the Rehabilitation Medicine Consult Service at the NIH Clinical Center
  • Dr. Angela Lek - Associate Research Scientist at Yale University, Associate Scientific Director with Neuromuscluar Disease Foundation
  • Dr. Monkol Lek - Assistant Professor and Research Group Leader at The Yale School of Medicine's Department of Genetics, Scientific Director with Neuromuscluar Disease Foundation


Evolving Agenda


August 30


  • 8:30am – 9:30am Breakfast/ Meet & Greet
  • Keynote Speaker
  • Speaker #2
  • Break/Snack
  • Speaker #3
  • Speaker #4
  • Lunch
  • Interactive Panel Discussion with members of NDF's Scientific Advisory Committee
  • Optional bus tour of Los Angeles
  • Celebratory Symposium Donor Dinner


August 31

  • A full day curated by patients for patients to include: nutrition, health & wellness, exercise, and practical solutions for living with GNEM




Registration Info

All attendees will be given the opportunity to fundraise

Symposium Attendee - Patient



Symposium Attendee - Caregiver/Family Member



Symposium Attendee - Physician/Scientist/Industry Professional



Symposium Attendee - NDF Board or Committee Member/Volunteer



Symposium Attendee - Other


RSVP for the 5th Annual Symposium on GNE Myopathy below: