The primary objective of this proposal is to evaluate whether targeted RNASeq has the potential to assist in the clinical diagnosis of the causes and molecular consequences of neuromuscular disease (NMD) with typical age of onset in teenage years. Since typically only one third of cases are resolved by exome sequencing, we will test whether parallel targeted RNA sequencing can both confirm the molecular consequences of suspected pathogenic variants, and identify novel mutations as well as molecular consequences.

Publications: Charkravorty, S., Berger, K., Arafat, D., Nallamilli, B., Subramanian, H., Joseph, S., Anderson, M., Campbell, K., Glass, J., Gibson, G., Hedge, M., “Clinical Utility of RNA Sequencing to Resolve Unusual GNE Myopathy with Novel Promotor Deletion”, Muscle & Nerve 2019 Jul;60(1):98-103. doi: 10.1002/mus.26486. Epub 2019 Apr 29