The Neuromuscular Disease Foundation (NDF) was able to successfully merge its Outreach and Advocacy Programs with its scientific research goals by collecting dozens of tissue samples from patients and non-affected family members during its 6th Annual Symposium on GNE Myopathy, in Philadelphia on Saturday, May 4th.

Included in the more than 70 attendees, were patients and family members who voluntarily provided blood, skin and saliva samples to support NDF’s scientific Biobank project at Yale University’s Lek lab, and its Whole Genomic Sequencing initiatives via Perkin Elmer in their effort to better understand mutations and the role of any modifiers within subsets of families with various natural histories.

“Everything we do at NDF is essentially advocacy because it’s all about the best interest of the patients, and in the case of GNEM – which is a muscle-wasting disease – time is muscle.” said Lale’ Welsh, CEO.  “Being able to bring scientists and biopharma experts together before patients and caregivers for education is important; but expediting our research through simultaneous collection of tissue, while everyone is already assembled in one place is efficient and vital to the speed of the process.”

An impressive collection of GNEM experts gave updates on their current studies, all of which in some way bolster NDF’s current efforts towards gene therapy, by addressing questions posed in a Pre-IND to NDF by the FDA last year.

  • Dr. Marjan Huizing, Clinical Project Manager of GNE Myopathy Clinical Studies, NIH/NHGRI
  • Dr. Paul Martin, Principal Investigator, Center for Gene Therapy, Nationwide Children’s Hospital
  • Dr. Kelly Crowe, Assistant Professor of Biology at Mount St. Joseph University
  • Nancy Parsons, VP Pharmaceutical Products, Leadient Biosciences
  • Dr. Monkol Lek, Yale School of Medicine and NDF’s Scientific Director
  • David Klements, Clinical Research Project Manager Neurological Clinical Research Institute, Massachusetts General Hospital
  • Katherine Koczwara, Yale PhD candidate in the Biological and Biomedical Sciences Program

View photos from this event here.

GNE Myopathy is a form of muscular dystrophy; a rare muscle-wasting disease striking teens and young adults in the prime of life, currently with no treatment or cure. The Neuromuscular Disease Foundation (NDF) has been funding studies for gene therapy, most recently through a match grant. Its mission is to enhance the quality of the lives of people living with GNE Myopathy (also known as HIBM) through advocacy, education, outreach and clinical research. Learn more about NDF here.

The next NDF Symposium on GNE Myopathy will take place in Tel Aviv, Israel on May 29th. For more information about speakers and to register, please click here.