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This research aims to improve the diagnosis rates of rare genetic disorders through genomic and multiomic approaches.

February 22, 2026Pathology

Genomic and multiomic approaches for increasing rare disease diagnosis

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This research aims to improve the diagnosis rates of rare genetic disorders through genomic and multiomic approaches.
Analysis of genomic sequencing data
Exploration of data sharing strategies
Discussion on targeted therapies
Examination of genetic disorders within the GREGoR Consortium
Increased diagnostic rates for rare genetic disorders
Identification of novel Mendelian genes
Highlighting the importance of data sharing in gene matching

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Genomic sequencing and data sharing improve rare disease diagnosis, indicating a need for targeted therapies.

Anne O’Donnell-Luria (2026) studied this question.

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