Neuromuscular Disease Foundation
NDF-Funded Research
Research Supported by NDF
Explore NDF-funded projects advancing research into GNE myopathy, from disease models and biomarkers to gene therapy development.
Browse the 2020–2023 grant awards below to see the investigators, institutions, and research projects supported by NDF.
Gene Therapy Projects
These projects form part of NDF’s support for gene therapy research. Visit our Gene Therapy page for program updates.
Supporting the International Gene Therapy Development Program
Dr. Monkol Lek
Department of Genetics, Yale University School of Medicine
GNE Myopathy: GneKO models for assessment of AAVGNE gene therapy
Dr. Stella Mitrani-Rosenbaum
Goldyne Savad Institute of Gene Therapy, Hadassah Hebrew University Medical Center
Grant Awards by Year
Select a year to view the funded projects.
2023 Awarded Grants
4 grants
Dr. Julie M. Crudele
University of Washington, Department of Neurology
Codon optimization of GNE transgene as a method to reduce doses for GNEM AAV gene therapy
Dr. Monkol Lek
Department of Genetics, Yale University School of Medicine
Supporting the International Gene Therapy Development Program
Dr. Paul T. Martin
Abigail Wexner Research Institute, Nationwide Children’s Hospital
Studies of an inducible GNE knockout mouse model for GNE myopathy
Dr. Stella Mitrani-Rosenbaum
Goldyne Savad Institute of Gene Therapy, Hadassah Hebrew University Medical Center
GNE Myopathy: GneKO models for assessment of AAVGNE gene therapy
2022 Awarded Grants
1 grant
Dr. Stella Mitrani-Rosenbaum
Goldyne Savad Institute of Gene Therapy, Hadassah Hebrew University Medical Center
GNE Myopathy: Establishment of GNEM KO muscle cells for the assessment of GNE related biomarkers
2021 Awarded Grants
8 grants
Dr. Rüdiger Horstkorte & Dr. Kaya Bork
Institute for Physiological Chemistry, Martin-Luther-Universität Halle–Wittenberg
Development of a sensitive and robust enzyme assays for GNE (UDP-N-acetylmannosamine 2-epimerase/N-acetylmannosamine kinase)
Dr. Kelly Crowe
Department of Biology, School of Behavioral & Natural Sciences Mount St. Joseph University
Evaluation of Lectin Staining Biomarkers in Pre-Clinical Models of GNEM
Dr. Julie Crudele
Department of Neurology, University of Washington
Development and preclinical assessment of AAV-GNE gene therapy
Dr. Monkol Lek
Department of Genetics, Yale School of Medicine
High throughput genetic screening assay for GNE
Dr. Paul Martin
Center for Gene Therapy, Abigail Wexner Research Institute at Nationwide Children’s Hospital
Development and gene therapy testing of a new disease model for GNE myopathy
Dr. Stella Mitrani-Rosenbaum
Goldyne Savad Institute of Gene Therapy, Hadassah Hebrew University Medical Center
GNE Myopathy: Establishment of Gne KO muscle cells for the assessment of GNE related biomarkers
Dr. Stella Mitrani-Rosenbaum
Goldyne Savad Institute of Gene Therapy, Hadassah Hebrew University Medical Center
GNE Myopathy: GneKO muscle conditional mouse for the assessment of AAVGne gene therapy
Dr. Wakako Yoshioka
Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry
Activation of endogenous mutated GNE product by small compound
2020 Awarded Grants
8 grants
Dr. Stella Mitrani-Rosenbaum
Hadassah Medical Center
Development of new animal models for GNE myopathy
Dr. Monkol Lek & Dr. Angela Lek
Yale University – Lek Lab
Biobank
Dr. Monkol Lek & PerkinElmer
Whole Genome Sequencing (WGS)
Dr. Marjan Huizing
NHGRI-NIH
Identification of Biomarker
Dr. Angela Lek
CRISPR gene editing approaches to GNE
Dr. Noah Weisleder
Ohio State University
Compromised membrane repair as a potential pathologic mechanism in GNEM
Dr. Paul Martin
Nationwide Children’s Hospital
Development of FDA-compliant gene therapy assays for GNE myopathy
Dr. Ichizo Nishino & Dr. Wakako Yoshioka
NCNP
Activation of endogenous mutated GNE product by small compounds
Help Fund the Gene Therapy Program
NDF’s gene therapy program combines rigorous science with cutting edge technology, offering hope for a definitive treatment, and we are closer than ever. Your support is essential for advancing our gene therapy program into human clinical trials.