In an exciting scientific first, researchers at the Allen Institute successfully designed a new gene therapy that reversed symptoms related to SYNGAP1-related disorders (SRD) in mice. These are a ...

Despite modern high-throughput sequencing, the genetic cause of most rare movement disorders remains unclear. A research team in Bochum and Tübingen has now solved one piece of the puzzle: The ...

UAB is participating in a Phase I/II trial of AMT 191, a one time gene therapy designed to enable patients with classic Fabry disease to produce their own missing enzyme, potentially reducing the need ...

Genetic defects are exceedingly common, which is not surprising considering just how many cells make up our bodies, including our reproductive cells. While most of these defects have no or only minor ...

Discover how CRISPR genome editing is revolutionizing medicine. Learn the science of Cas9, current clinical trials, and the future of gene editing.

Chronic kidney disease (CKD) is a public health challenge that affects more than 800 million people worldwide. 1 CKD can be caused by a variety of disease processes. Many causes are difficult to ...

Stanford Medicine pediatric hematologist Agnieszka Czechowicz, MD, Ph.D., has devoted her research career to improving ...

Please provide your email address to receive an email when new articles are posted on . The expression of GSDMB was high in children with a 17q21 genetic variant. These children did not have ...

One to two out of every 100 newborn babies are born with a Congenital Heart Defect (CHD), yet the exact cause remains unclear. Human geneticists at the University Medicine Oldenburg (Germany) have now ...

More than 12,000 years ago, two closely-related women – a mother and her daughter, perhaps – were buried in an eternal ...