Diagnosing hereditary myopathies and dystrophies with RNA sequencing: translating research innovations into diagnostic practice [ 1/1/2021 - 12/31/2025 ]

Research Grant

Brief description Despite recent advances in genetic testing, more than 50% of patients with hereditary neuromuscular disorders remain undiagnosed. This project aims to apply an alternative and the newest form of Next Generation Sequencing (NGS) testing strategy known as transciptome or RNA sequencing to clinical practice to further investigate patients who have remained undiagnosed despite WES and WGS.

Funding Amount $279,725

Funding Scheme Investigator Grants

Chief Investigator Dr Roula Ghaoui

Notes Emerging Leadership 1