Genomic Research as a Critical Pathway to Diagnosis for Individuals with Rare Disease
Anne O’Donnell‐Luria, Stephanie P. DiTroia, Melanie O’Leary, Lynn S. Pais, Vijay S Ganesh, Gabrielle Lemire, Emily O’Heir, A. D. Neale, Alicia Pham, Grace E. VanNoy, Brian E. Mangilog, Moriel Singer‐Berk, Alba Sanchis‐Juan, Hana Snow, Siwaar Abouhala, , Heidi L. Rehm
The Rare Genomes Project provides remote genomic sequencing to rare disease families, achieving a 23.3% diagnostic solve rate and highlighting the role of research in overcoming clinical diagnostic barriers.
medRxiv · Sep 20, 2026 · PreprintGenetic & Genomic Medicine