The US Naval Research Laboratory (NRL) has developed new portable field devices that will allow soldiers to identify unknown ...

Studies of genetics conducted in yeast cells, human neurons, mice or other model systems often reveal networks of genes that ...

I knew I had to try to find him. Two weeks (and two vials of spit) later, I got my results—and I already had a lead.

Bionano Genomics, Inc. (Nasdaq: BNGO) today announced that studies featuring optical genome mapping (OGM) at the 2026 European Society of Human Genetics (ESHG) conference grew substantially compared ...

Congenital heart disease (CHD) is the most common birth defect and a leading cause of infant mortality. CHD often has a genetic cause, and recent studies demonstrate the utility of genetic testing. In ...

Daniel Combs, MD, is an Assistant Professor of Pediatrics and Medicine at the University of Arizona. Clinical signs raise suspicion for Prader-Willi syndrome (PWS), but genetic testing confirms it.

After a decade of clinical assessments failed to meet DSM-5 criteria, a chromosomal microarray revealed the genetic truth behind a complex neurodevelopmental presentation. This question addresses a ...

We report a family with X-linked ichthyosis (XLI), in which the non-invasive prenatal testing (NIPT) results from the pregnant woman revealed a deletion of approximately 2 Mb at Xp22.31, confirmed by ...

Non-invasive prenatal testing (NIPT) has recently expanded to include sex chromosomal aneuploidies (SCAs) and copy number variations (CNVs), as well as the commonly screened trisomies (T21, T18, and ...

Aurora Therapeutics' first target is the rare inherited disease phenylketonuria, also known as PKU. Here at MIT Technology Review we’ve been writing about the gene-editing technology CRISPR since 2013 ...

JA Rosenfeld is an employee of Signature Genomic Laboratories, a subsidiary of PerkinElmer, Inc. The authors have no other relevant affiliations or financial involvement with any organization or ...