Our mission at the Neuromuscular Disease Foundation

is to enhance the quality of the lives of people living with GNE Myopathy through advocacy, education, outreach, and funding critical research focused on treatments and a cure.

NDF is governed by a rotating Board of Directors, managed by its CEO, advised by our Scientific Advisory and other committees and supported by staff and volunteers. To review our program impact year over year, please see our Annual and Financial Reports.

NDF’s outreach, advocacy and scientific impact:

OUTREACH & ADVOCACY IMPACT

Over 1200 GNE Myopathy patients and family members worldwide are served by our support programs and resources every year.

We host the largest annual symposium on GNE Myopathy in the world, delivering education and support programs and connecting stakeholders, physicians, scientists, and researchers with community members.

We are improving the quality of life for affected individuals and their families and caretakers by facilitating social and networking events, support groups, health, nutrition, and exercise workshops, as well as practical solutions to daily struggles for those living with disabilities related to GNE Myopathy.

Our NDF Ambassador program leads the effort to promote timely genetic testing and steps to prevent passing down the disease to future generations.

Our Certified Patient Advocacy program empowers GNE Myopathy patients to self-advocate through NDF-sponsored Patient Days worldwide to reach patients unable to travel to our symposia.

We provide the latest data and resources to our international support group network, which consists of sister organizations in several countries, many of whom do not have the resources to form legal entities or access to such information.

OUR SCIENTIFIC IMPACT

For the past 10 years, we have funded over $1.3 million in clinical research globally, resulting in greater interest from principal investigators and industry alike.

We are spearheading a formal consortium of key researchers who have agreed to collaborate, convene annual, and share data through a single database to expedite a cure. Members of our scientific collaboration include: Ultragenyx Pharmaceuticals, PerkinElmer, The Open Medicine Institute, Emory University, UCLA, UC Irvine, JScreen, The Jain Foundation, Ohio State University, Nationwide Children’s Hospital, and the National Institutes of Health (NIH).

We maintain one of the largest GNE Myopathy patient registries in the world to ensure that the community is organized and trial-ready and to collect data needed for better disease understanding.

We encourage patients to register for natural history studies.

Our commitment to the intersection of technology and biology has led to the launch of an investigation with the FDA for gene therapy.

We advocate for additional gene therapy funding estimated at $25 million with third-party biotech firms, high net worth stakeholders, and non-governmental grant makers.