Scientists join NIH study of genomic variation among cells

Researchers at the UW School of Medicine and Seattle Children’s Research Institute have been awarded $12.5 million from NIH to study variations in the genomes of normal cells that accumulate as we grow, develop, and age.

The UW effort will be led by Dr. Andrew Stergachis, assistant professor (Medical Genetics),  Dr. Jimmy Bennett (Seattle Children’s Research Institute), and Evan Eichler (Genome Sciences).

The grant is part of a $140-million, five-year effort led by NIH to characterize the differences between the genomes of somatic cells.

The goal of the new NIH program, called the Somatic Mosaicism across Human Tissues (SMaHT) Network, is to begin to systematically catalog the genomic differences across a wide variety of normal human tissues. 

The UW group is one of 22 that have been awarded funding to establish the network. The network will start by sequencing and characterizing somatic genetic variation in tissues from 150 deceased human donors who represent diverse ancestries and represent different life stages. 

The UW-SCRI effort will analyze genomic variation across the entire genomes of cells from 10 different tissues from 50 donors. 

Determining the complete sequences of these genomes is essential because many of the variants known to cause disease occur in genomic regions that are technically very difficult to sequence, Stergachis said.