One in every 10 people worldwide is impacted by a rare genetic disease but about 50% of them remain undiagnosed despite rapid ...

Children's Mercy Kansas City has achieved a significant advancement toward the treatment of rare genetic diseases through the ...

UC Santa Cruz researchers showcase how long-read sequencing can diagnose rare genetic diseases in days instead of years.

The daughter of a Kent County sheriff’s deputy who is fighting a rare genetic disorder will benefit from this year’s Robert ...

The event is put on by the Grand Rapids Police Department and the Kent County Sheriff's Office. (Jan. 30, 2025) ...

In a Phase I/II trial, patients with X-linked chronic granulomatous disease will receive a treatment created using a new ...

Around 80% of rare diseases have a genetic cause, almost 70% of which present in childhood, about 95% lack approved treatments, and the average time for an accurate diagnosis is 4·8 years. In the past ...

Christi-Joe’s mother, Josephine Clements, says her daughter, who goes by CJ, has 22q11 Deletion Syndrome. Now considered the ...

In two new papers, researchers from The Jackson Laboratory (JAX) report the successful use of two approaches -- gene therapy ...

A diabetes drug may beat costly shots for patients with a rare genetic condition, according to a Rutgers Health study.