Melanie O’Leary

'Somebody to find an answer, so I can sleep at night': Diverse Perspectives on Genomic Research for Rare Disease

Purpose: Rare disease genomic research suffers from the underrepresentation of minoritized populations. We therefore sought to elucidate equitable strategies for participant engagement in rare disease genomic research. Methods: Eligible participants had previously applied to the...

A Recurrent 3′ UTR Variant in CAPN3 Highlights the Diagnostic Impact of Non‐Coding Variants in Limb‐Girdle Muscular Dystrophies

Objective A substantial proportion of individuals with suspected genetic conditions, including neuromuscular disorders, lack a definitive molecular diagnosis. Non‐coding variants, particularly those in the 3′ untranslated region (3´UTR), which regulate mRNA stability, translation...