Neuromuscular Disease Foundation (NDF) is pleased to announce its GNEM-related research projects selected for funding in 2019. Recipients include Hadassah Medical Center, Yale University, and the NIH, among others. Since raising the first $1 million challenge (of a $2.5 million match grant) last December, NDF has invited numerous proposals for GNEM clinical research projects. NDF’s Scientific Advisory Review Committee a Board of Directors have carefully vetted the recipients to ensure that the majority of studies directly supports the gene therapy process. Some remaining proposals are still under review and the organization plans to work with applicants to modify proposals to enhance their relevance to NDF’s scientific objectives.

“NDF is providing a gift to the NIH of $150,000 to support the NIH’s project with MaNAc, a potential treatment for GNEM.  Everything else we are funding will be expressly to expedite the process of gene therapy,” said Lale’ Welsh, NDF’s CEO. “Finding scientists dedicated to your cause is always a challenge for any rare disease, and NDF has worked hard to foster relationships with preeminent scientists and partners in the GNEM community, worldwide. Our challenge has been to leverage these much-needed funds to encourage scientific collaboration, build on one another’s work with a unified vision, and expedite a therapy that is much too slow for most patients — in spite of the rapid speed of technological progress. We are very hopeful that these studies will bring us closer to approval from the FDA.”

The following research proposals have been approved for funding:

  • A gift based on a proposal by Dr. Marjan Huizing, Dr. Nuria Carrillo and Dr. May Malicdan, National Human Genome Research Institute (NHGRI) of The National Institutes of Health (NIH), Bethesda, MD
  • NDF’s Scientific Advisory Committee (SAC) considers this funding (in the form of a gift) critical to the continuation of support and human resources for GNEM studies.
  • A proposal by Dr. Stella Mitrani-Rosenbaum, Goldyne Savad Institute of Gene Therapy, Hadassah Hebrew University Medical Center, Jerusalem, Israel
  • This proposal calls for development of a knock-in mouse model and a zebrafish study. If successful, these animal models will clear a long-standing obstacle in this area and will expedite approval at the FDA level.
  • Two proposals by Dr. Monkol Lek and Dr. Angela Lek, Lek Lab, Department of Genetics at Yale University School of Medicine, New Haven, CT
  • This grant is intended to identify and develop new biomarkers useful in tracking therapies, including gene therapy. A second proposal, investigating a CRISPR system, may provide an alternative form of gene therapy that may be more useful in certain patients.
  • A proposal by Dr. Kelly Hardin, Mount Saint Joseph University, Cincinnati, OH
  • This project proposes to use sialylation-sensitive lectins in GNEM patient myoblast cells with a variety of GNE mutations to identify biomarkers of disease, which can then be used to assess the therapeutic potential of therapies such as gene therapy.

NDF has also earmarked funds for its other programs which support patient advocacy and awareness, including outreach to neurologists and patient-centric symposia in Philadelphia, Israel and Italy. To learn more about NDF’s scientific progress, and objectives, please visit:

GNE Myopathy is an adult onset, rare, genetic, distal muscle disease affecting people of all backgrounds. It is especially prevalent in people of Jewish, Persian, Indian, Japanese and European descent. For a downloadable, detailed scientific explanation click here.