Included below are two recent publications where researchers have used data from the 1000 Genomes Project to study neurodegenerative disorders, conditions that gradually damage neurons in the brain or nervous system, eventually causing difficulties with memory, movement, or thinking.
In the first study researchers used the 1000 Genomes Project data to study amyotrophic lateral sclerosis (ALS), a severe disease that damages the neurons that control movement. These researchers studied genes that have been linked to ALS in previous research and also identified new genes such as a gene called PCP4 that may be involved in ALS. Their research focused on genetic changes that impact how much of the gene protein is made and identified new ways that these changes may contribute to ALS.
For more information:
Deep learning analyses of splicing variants identify the link of PCP4 with amyotrophic lateral sclerosis.
Brain, 2025 | https://doi.org/10.1093/brain/awaf025
In the second study, researchers used 1000 Genomes Project data to study Alzheimer’s disease, which is influenced by both inherited and environmental factors. The researchers identified proteins linked to Alzheimer's risk, including two proteins called GSTP1 and BIN1, where there are potential medications to reduce them. The study also found that changes in diet and quitting smoking might protect against Alzheimer's. This research proposes new Alzheimer's disease risk factors and suggests both medication and healthy lifestyle changes as possible ways to prevent the disease.
For more information:
Uncovering leading compounds for Alzheimer’s disease treatment: mendelian randomization and virtual screening insights into plasma protein modulation.
Biological Research, 2025 | https://doi.org/10.1186/s40659-025-00598-2
