Fragile X disorders include two distinct conditions: fragile X syndrome (the most common single-gene cause of developmental delay and autism) and an entirely separate group of premutation syndromes.

The enzyme AMPD1 plays a key role in muscle energy production and normal muscular function. Loss of AMPD1 activity due to ...

In July 2025, Novartis Pharmaceuticals conducted a Phase III multi-center, single dose (1.2 x 1014 vector genomes), ...

The discovery may explain why cutting edge CAR T-cell therapy has managed to revolutionized treatment for blood cancer but ...

Scientists with the NIH-backed SMaHT Network are mapping every DNA mutation in the human body, creating a groundbreaking ...

According to the study, a single genetic mutation in the NOVA1 gene, unique to modern humans, may have impacted the development of brain pathways essential for vocal behavior. By genetically modifying ...

A single mutation in the surface protein of the highly pathogenic avian influenza (HPAI) H5N1 influenza virus could allow for easier human transmission.

A new study by biologists from the Scripps Research Institute shows that a bird flu virus is just a single mutation away from having human-ready receptors. If the H5N1 virus does make the switch ...

A single mutation in the virus currently infecting poultry and dairy farms across the U.S. could help the it spread among humans.

The potential mutation would allow the avian influenza virus sweeping through dairy herds to attach to a receptor protein on the surface of our cells.

California researchers say the world may be just one genetic tweak away from human-to-human transmission of the H5N1 bird flu virus — a worrisome mutation that could open the door to widespread ...

Lee went on to elucidate the molecular mechanisms underlying this effect, identifying the following: naturally-occurring myostatin mutations in cattle (with Alexandra McPherron and concurrently with ...