Publications by authors named "Yeisha Arcia De Jesus"
Article Synopsis
- Human genetics research has made a lot of progress in finding out what causes diseases over the last ten years, thanks to sharing data and working together.
- The GENESIS platform helps scientists who may not know a lot about bioinformatics to analyze genetics data and discover new disease genes.
- With over 20,000 datasets from rare disease patients, GENESIS has contributed to discovering more than 100 new genes and helped solve many cases for patients with rare diseases.
Background: Caused by duplications of the gene encoding peripheral myelin protein 22 (PMP22), Charcot-Marie-Tooth disease type 1A (CMT1A) is the most common hereditary neuropathy. Despite this shared genetic origin, there is considerable variability in clinical severity. It is hypothesized that genetic modifiers contribute to this heterogeneity, the identification of which may reveal novel therapeutic targets.
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