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Genetic and Congenital
Smith-Lemli-Opitz Syndrome

Rare Genomes Project Makes Strides in Diagnosing Rare Diseases

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By employing remote study design, advanced genomic sequencing techniques, and extensive collaboration, the Rare Genomes Project (RGP) is making significant strides in diagnosing rare diseases, offering hope and support to families navigating the complex diagnostic journey, according to a poster presented at the 2024 ACMG Annual Genetics Meeting.

The project underscores the critical role of research programs in advancing diagnostic methodologies and expanding our understanding of rare diseases, ultimately benefiting both individuals and the rare disease community as a whole.

Established in June 2017, the RGP aims to tackle the daunting challenge faced by the majority of patients with rare, suspected monogenic conditions who lack a molecular diagnosis.

The journey towards diagnosis for individuals with rare diseases is often filled with hurdles, from exhausting clinically available testing to grappling with accessibility issues in genetics care and insurance coverage. However, the RGP is pioneering a revolutionary approach to address these obstacles head-on.

By directly partnering with families and advocacy groups, and leveraging a remote study design, the RGP extends its reach across the United States, regardless of geographical constraints. Eligible families, irrespective of prior testing, are invited to participate, with all procedures—from application to sample acquisition and data collection—conducted remotely.

Each proband undergoes PCR-free genome sequencing, with trio sequencing whenever feasible. Analysis encompasses various aspects, including SNV/indels, structural variants, mitochondrial variants, and short tandem repeats. Supplemental methodologies, like RNASeq and long-read sequencing, further enhance diagnostic capabilities.

In its first 6 years, the RGP has made significant strides. With 1224 families enrolled from all 50 states and Puerto Rico, the project has become a lifeline for those navigating the diagnostic odyssey of rare diseases. Returnable results have been identified in 150 families, while over 190 variants in novel candidate genes have been shared for further investigation through platforms like the Matchmaker Exchange.

Variants of uncertain significance and diagnostic variants are submitted to platforms like ClinVar, enriching the broader genetic knowledge base. Individual-level data are shared for research purposes, fostering a collective effort to combat rare diseases.

Reference
Austin-Tse C, et al. The Rare Genomes Project: Improving access to genomic sequencing and identifying causes of rare disease. Presented at: 2024 ACMG Annual Genetics Meeting.

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