New effort to address rare genetic conditions that dramatically raise the risk of serious mental health challenges, including ...

Researchers at Children's Hospital of Philadelphia (CHOP) have found that in rare instances, variants responsible for SYNGAP1 ...

Decades of cancer research at Fred Hutch Cancer Center have given our scientists a deep understanding of other diseases — unrelated to cancer — that are also the result of genetic flaws. Our research ...

After displaying symptoms of a rare metabolic disease just after birth, scientists raced to prepare a custom CRISPR therapy to correct the genetic mutations causing KJ's illness. After receiving ...

A groundbreaking blood test promises to transform the diagnosis of rare genetic diseases in babies and children, offering results in under three days and potentially eliminating the need for ...

The discovery of two new genetic disorders comes from a study delivered through the National Institute for Health and Care ...

"New genetic cause of neurodevelopmental disorders." ScienceDaily. www.sciencedaily.com / releases / 2025 / 04 / 250410130753.htm (accessed June 11, 2025). Explore More ...