Included below are two recent publications in which researchers have used data from the 1000 Genomes Project to study neurological disorders, which are diseases that affect the nervous system.
In the first study, researchers used 1000 Genomes Project data to investigate Parkinson’s disease, where the role of proteins affected by genetic changes is not well understood. This study developed a new approach to study proteins and their functions in the disease. The researchers identified over 500 proteins linked to Parkinson’s, including proteins involved in the immune system. Nine proteins were highlighted as potentially important for the disease. This study provides a new way to understand how genetic changes may be involved in Parkinson’s Disease.
In the second study, researchers use 1000 Genomes Project data to investigate copy-number variants (CNVs), which are changes in the number of sections of DNA in the genome. Researchers looked at data from people with neurodevelopmental disorders and found 41 important CNV regions, including 24 new ones. They discovered that genes in these regions are crucial for brain development. In addition, the study found that 162 genes, including 22 new ones, are linked to these disorders. This study suggests that multiple CNVs and genes contribute to the risk of neurodevelopmental disorders.
For more information:
Proteogenomic network analysis reveals dysregulated mechanisms and potential mediators in Parkinson’s disease
Nature Communications, 2024 | https://doi.org/10.1038/s41467-024-50718-x
Identification of novel driver risk genes in CNV loci associated with neurodevelopmental disorders
HGG Advances, 2024 | https://doi.org/10.1016/j.xhgg.2024.100316
