Strategies to Uplift Novel Mendelian Gene Discovery for Improved Clinical Outcomes.

ABSTRACT: Rare genetic disorders, while individually rare, are collectively common. They represent some of the most severe disorders affecting patients worldwide with significant morbidity and mortality. Over the last decade, advances in genomic methods have significantly uplifted diagnostic rates for patients and facilitated novel and targeted therapies. However, many patients with rare genetic disorders still remain undiagnosed as the genetic etiology of only a proportion of Mendelian conditions has been discovered to date. This article explores existing strategies to identify novel Mendelian genes and how these discoveries impact clinical care and therapeutics. We discuss the importance of data sharing, phenotype-driven approaches, patient-led approaches, utilization of large-scale genomic sequen

SUBMITTER: Seaby EG 

PROVIDER: S-EPMC8248347 | biostudies-literature | 2021

REPOSITORIES: biostudies-literature