New 13 Rare Alzheimer’s gene variants

Researchers have found 13 variants of genes connected to Alzheimer’s disease. The study published in Alzheimer’s & Dementia: The Journal of the Alzheimer’s Association.The researchers reported the sequenced whole genomes of people in more than 600 families with individuals who have been diagnosed with  and searched for rare versions of genes. They found the genomes of 2,247 people in a genome-wide association study. They also found the 13 previously unknown rare gene variants. These genes are related to synapse function, neural development and neuroplasticity

Dmitry Prokopenko of Massachusetts General Hospital’s McCance Center for Brain Health and the lead author of the study found that the research paper gives the next stage of disease-gene discovery by allowing us to look at the entire sequence of the human genome and assess the rare genomic variants, which we couldn’t do before.

Rudolph Tanzi, who is vice-chair of Neurology and director of the hospital’s Genetics and Aging Research Unit and last author on the paper said that the Identification of the rare versions of genes can contribute information about the biology of the disease. The researchers can study the gene variants in animal models to see how it specifically affects brain function. Scientists research how to assess the risk for developing Alzheimer’s once they know more about how prevalent these gene variants are in the general population. Finding the rarer gene variants could prove to be important medically as well as scientifically.

Rudolph Tanzi said that we believe we have created a new template for going beyond standard GWAS and association of disease with common genome variants, in which you miss much of the genetic landscape of the disease.