Genomes of Healthy Elderly Show Fewer Disease-Linked Variants

Researchers in Australia have constructed a genomic reference database of healthy older people, which could help scientists uncover the genetics of healthy aging. The Medical Genome Reference Bank effort, launched in 2012, is to eventually include whole-genome sequencing data on more than 4,000 elderly individuals who don’t have common aging-related conditions like cancer, dementia, or heart disease. Previous studies of the so-called  ‘Wellderly’ have focused on identifying potentially protective genetic variants, finding some that might prevent cognitive decline. But researchers from the Garvan Institute of Medical Research, which is leading the new initiative, said having a baseline of healthy aging could help shed light on genetic variants that cause disease. The Garvan-led team published the first data release from their effort — sequencing and phenotyping data on 2,570 elderly Australians. As expected, this cohort had lower levels of common and rare variants linked to disease, though a small percentage still harbored known pathogenic variants. “By doing a comprehensive analysis of healthy individuals, we can get a much clearer understanding of which genes are and which are not linked to disease,” Garvan’s David Thomas said in a statement. “The Medical Genome Reference Bank will provide an ideal background for the future of genomic research in Australia.”

https://www.nature.com/articles/s41467-019-14079-0