Grants at a Glance - Summer 2019

“Our research aims to develop unbiased experimental strategies and tools to systematically address critical roadblocks in the identification and functional annotation of causative disease alleles in neuromuscular diseases.” Wolfgang Pernice, PhD, a postdoctoral fellow in Neurology at Columbia University Medical Center in New York, was awarded an MDA development grant totaling $210,000 over three years to more accurately associate rare genetic variants to multiple neuromuscular diseases (NMDs). For many major NMD categories, the causative gene can be identified in less than 50% of the cases. One of the complicating factors is that in many cases, rare gene variants are identified, but it’s unknown if a variant causes the disease or is harmless. Lacking are efficient, unbiased experimental strategies to systematically evaluate the relevance of these individual variants in disease. Likewise, it’s not known how many of these genes function in healthy individuals. As a new MDA grantee, Dr. Pernice will use a novel imaging-based method and advanced machine learning to screen for disease-associated phenotypes in patient-derived cells with genetically confirmed NMDs, including Charcot-Marie-Tooth disease and mitochondrial myopathies. This method will allow him to establish a reference dataset by which to directly compare and evaluate new candidate mutations and conduct pharmacological screens for potentially therapeutic agents.