Genetic testing isn't common in adults. Research shows it should be

The first time the seemingly healthy woman gave birth, she went into heart failure. She recovered and went on to deliver her ...

Record-Breaking Genome Sequencing Brings Same-Day Diagnosis To Newborns

In a breakthrough that redefines both speed and clinical potential, a new world record for the fastest human whole genome ...
Nasdaq

Myriad Genetics' MyRisk® Hereditary Cancer Test with RiskScore® Recognized as Top Advance in Genomic Medicine

Myriad Genetics, Inc. announced that its MyRisk® Hereditary Cancer Test with RiskScore® was recognized in the American Journal of Human Genetics as one of the top 10 significant advances in genomic ...

Researchers show benefit of ultra-deep RNA sequencing in Mendelian disorder diagnostics

RNA sequencing (RNA-seq) is a powerful tool in diagnosing Mendelian disorders, but the optimized sequencing depth for this ...
EurekAlert!

Kiely N. James, PhD, FACMG receives the 2025 Richard King Award for Best Publication by a Trainee in Genetics in Medicine

Kiely N. James, PhD, FACMG is the recipient of the 2025 Richard King Trainee Award. This award was instituted by the ACMG Foundation for Genetic and Genomic Medicine to encourage American Board of ...
PBS

Experimental gene editing helped a desperately ill baby thrive. Scientists say it could someday treat millions

A baby born with a rare and dangerous genetic disease is growing and thriving after getting an experimental gene editing treatment made just for him. Researchers described the case in a new study, ...