ASO-Mediated DNM2 Knockdown for Centronuclear Myopathies
SUMMARY:
Centronuclear myopathies (CNM) are a group of severe muscle diseases for which no effective therapy is currently available. We have previously shown that reduction of the large GTPase DNM2 in a mouse model of the X-linked form, due to loss of myotubularin phosphatase MTM1, prevents the development of the skeletal muscle pathophysiology. As DNM2 is mutated in autosomal dominant forms, here we tested whether DNM2 reduction can rescue DNM2-related CNM in a knock-in mouse harboring the p. R465W mutation (Dnm2RW/+) and displaying a mild CNM phenotype similar to patients with the same mutation.
Speaker
Suzie Buono, MSc
Suzie Buono completed her Master in molecular biology, physiopathology and therapy in 2014. She worked as an engineer to the IGBMC (Institute of Genetic and Molecular and Cellular Biology – Unistra/INSERM/CNRS) of Strasbourg, France in the team of Dr. Jocelyn Laporte where she focused on proof-of-concept for novel therapies for myotubular and centronuclear myopathies (animal models, pharmacology, viral transfer, antisense oligonucleotides).
She then moved to Dynacure in November 2016. Dynacure was founded as a spin-off from the IGBMC. Dynacure is a biotechnology company developing new treatments for patients affected by serious orphan disorders. In its first drug discovery program, Dynacure is focusing on Centronuclear Myopathies (CNM), a rare, debilitating disease affecting children and young adults. Dynacure’s DYN101 program is based on the modulation of the expression of the DNM2, through the use of an antisense oligonucleotide developed in collaboration with Ionis Pharmaceuticals, the leading biopharmaceutical company in RNA-targeted drug discovery. Suzie is an engineer in the research team led by Belinda Cowling (PhD, CSO). Suzie is responsible for in vivo experimentation in the research team, including muscle phenotyping in mice.