NIH launches $140 million effort to investigate genetic variation in normal human cells and tissues. The National Institutes of Health is launching a new program, the Common Fund’s Somatic Mosaicism Across Human Tissues (SMaHT) Network, that aims to transform our knowledge of how much genetic variation there is in the cells and tissues throughout our bodies. Somatic mosaicism is a type of genetic variation that arises when our somatic (non-reproductive) cells are genetically different from each other. This somatic genetic variation occurs when some of our cells accumulate DNA changes over time. Read more.

Isabelle B. Cooperstein, BS is the Recipient of the 2023 ACMG Foundation/David L. Rimoin Inspiring Excellence Award.  BETHESDA, MD – March 15, 2023 | The ACMG Foundation for Genetic and Genomic Medicine is proud to present the ACMG Foundation/David L. Rimoin Inspiring Excellence Award to Isabelle B. Cooperstein, BS for her featured platform presentation at the 2023 ACMG Annual Clinical Genetics Meeting, “Phenotypic Patient Matching to Achieve Diagnoses in Rare Disease Cohorts.” Isabelle B. Cooperstein, BS, is a third-year PhD candidate in the Department of Human
Genetics at the University of Utah in Salt Lake City.  Read more.

A study published in Cell Reports involved analysis of more than 15,000 RNA-Seq datasets using new algorithms to uncover the landscape of allelic expression. Led by University of Utah Health graduate student Stephanie Kravitz with senior authors Aaron Quinlan, PhD, professor of human genetics, and Christopher Gregg, PhD, associate professor of neurobiology, the scientists introduced a methodology to profile random allelic expression and allele co-expression in 54 human tissues from 832 individuals. They found that RAE impacts rapidly evolving genomic regions and age-related disease mechanisms. Read the full article here. 

Illumina has acquired IDbyDNA, a company developing metagenomic technology for infectious disease testing and pathogen surveillance. Read the full press release here. 

Gabor Marth, DSc, is a professor of human genetics and is co-director of the Utah Center for Genetic Discovery. Marth’s research is focused on developing computational tools for genome analysis, many of which are now used by researchers throughout the world and are driving advances in clinical diagnostics and personalized genomic patient care. Read the full announcement here.