Science.News
Jul 1, 2024
High-Risk Parkinson’s Variant Discovered with Whole Genome and Exome Sequencing
"Familial cases" make up about 10-15% of Parkinson's disease patients; this label is traditionally reserved for those who are known to have at least one first-degree relative with the disease. These familial Parkinson's disease genes were discovered using various family-based study designs. However, traditional family-based research methods often fail to detect causal variants because of genetic diversity within families, low penetrance, and small sample sizes within families.
Source
Hop, P.J., Lai, D., Keagle, P.J. et al. Systematic rare variant analyses identify RAB32 as a susceptibility gene for familial Parkinson’s disease. Nat Genet (2024). https://doi.org/10.1038/s41588-024-01787-7
