which evidenced a missense variant of uncertain significance in exon 38 of the KMT2D gene. This phenotype further suggested Kabuki syndrome, ruling out CHARGE. The present report highlights the ...

Klinefelter syndrome is a genetic condition that affects only males. Here's what you should know about the causes, symptoms, and treatment options for the condition. Klinefelter syndrome is a genetic ...

Encoded Therapeutics is shrinking its headcount by 29% as the gene therapy biotech draws resources away from its early-stage R&D toward its Dravet syndrome program. The asset in question ...

June 13, 2024 — A viral gene therapy has reversed some brain abnormalities in infant mice with FOXG1 syndrome, a significant step toward one day treating children with this severe neurodevelopmental ...

Turner syndrome is a rare genetic disorder found in some women and people assigned female at birth. It can cause short stature and a range of health issues including heart defects, learning ...

Usher syndrome is a genetic disorder involving the loss of both sight and hearing. The hearing loss generally occurs at birth or shortly thereafter; while a progressive loss of vision due to retinitis ...

The Chanarin–Dorfman syndrome (CDS) is a rare, autosomal recessively inherited genetic disease, whch is associated with a decrease in the lipolysis activity in multiple tissue cells. The clinical ...

Taysha Gene Therapies' TSHA-102 tackles Rett syndrome’s root cause with its miniMECP2 transgene and scAAV delivery. So far, this is TSHA’s main value driver, and it appears safe and effective ...

Feb. 19, 2025 — Researchers have found a compound in ginger, called furanodienone (FDN), that selectively binds to and regulates a nuclear receptor involved in inflammatory bowel disease (IBD ...

Six months later, however, the doctors sat the couple down and gave them the news that was going to change their lives. “We were told that Javier had Wiskott-Aldrich syndrome, a rare genetic disease ...

Eye color is a complex genetic trait determined by pairings of genes passed on from each parent. Scientists once believed eye color was determined by a single gene, but advances in genetic research ...

Methods We examined the UBA1 gene in 9 patients with clinically suspected VEXAS syndrome. We first focused on variants p.Met41Val, p.Met41Thr and p.Met41Leu with a known association with this disease ...