Kleefstra syndrome is a rare genetic disease caused by a mutation or deletion in one copy of a gene called EHMT1, which encodes for a protein called GLP. In the disorder, half the normal level of GLP ...

HARTSVILLE, Tenn. (WTVF) — Several new laws went into effect at the beginning of this month. One of them helps children, and their families, who are struggling with a very rare disease called ...

Vacationing on Block Island in Rhode Island, Matt and Maria Lockwood were trying to get their two young daughters ready for a day at the beach. It was 10 a.m., July 27, 2020. The phone was ringing.

Researchers at the RIKEN Cluster for Pioneering Research (CPR) in Japan report that Kleefstra syndrome, a genetic disorder that leads to intellectual disability, can be reversed after birth in a mouse ...

The heartbroken parents of a baby boy given just weeks to live due to a rare gut condition have never been able to see him at the same time - due to coronavirus social distancing rules. Luke Evans, 30 ...

Geoff Rhyne has a rhythm about the kitchen. It likely comes from over two decades spent in professional kitchens, which shaped both Rhyne’s approach to food but also fed his penchant for creating ...

After an intrepid, decade-long search, scientists say they have found a new role for a pair of enzymes that regulate genome function and, when missing or mutated, are linked to diseases such as brain ...

A unique fundraiser will bring together more than 45 culinarians, beverage professionals and musicians to lend their talents and their passion to making life better for those with a rare genetic ...

Join a new initiative, Tailgates & Touchdowns, on Sept. 16 to help seriously ill children, all while eating some fine food, visiting with friends and neighbors and watching the day's big LSU game.

Researchers at the RIKEN Cluster for Pioneering Research (CPR) in Japan report that Kleefstra syndrome, a genetic disorder that leads to intellectual disability, can be reversed after birth in a mouse ...

Researchers report that Kleefstra syndrome, a genetic disorder that leads to intellectual disability, can be reversed after birth in a mouse model of the disease. The series of experiments showed that ...