DEVELOPMENT OF SELECTIVE SILENCING MUTATION AS A THERAPY FOR THE COLLAGEN VI RELATED DYSTROPHIES
The project is based on gene silencing, a technique used to mask dominant mutations known in advance. This process ensures that only the functional copy of the gene will be expressed and thus the protein will be functional.
It would become a future therapy, by using oligonucleotides to mask regions affecting the normal expression of a protein, achieving optimum levels of collagen VI in patients affected by dominant negative mutations, these kind of mutation are the most common in this subtype of dystrophy.
150,000 US Dollars, co-financed by Fundacion Noelia i Cure CMD.
Contributions made by Noelia Foundation
November 28, 2016:$ 75,000. Proof of transfer
Place of development
NINDS National Institute of Neurological Disease and Stroke, Bethesda, Maryland USA and elsewhere if they saw fit.
• Dr. Bonnemann, Carsten G., MD
Researchers involved in the project review
• Dr. Edward Kaye, MD, Interim Medical Director, Sarepta
• Dra. Cecilia Mallebrera
• Dra. Dione Kobayashi, PhD, Cure CMD Board
• Dra. Annemieke Aartsma- Rus, Leiden