Up to 15% of all couples suffer from infertility at some point in their lives. Lack of knowledge about the causes of fertility problems can lead to prolonged clinical testing and extended treatment ...

A well-connected family’s fight to access a potential treatment for their son highlights the barriers most rare disease ...

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 ...

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 ...

Children with a rare and often fatal genetic condition may benefit from early treatment with vitamin B3, halting their ...

Genetic testing can reveal DNA changes in cerebral palsy, but many findings may not actually explain the condition.

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 ...

A multi-ancestry polygenic risk score improved HCM risk prediction in a diverse U.S. population of more than 258,000 people.

Gene therapy is a revolutionary field in modern medicine, offering transformative potential to treat and potentially cure a wide range of genetic and acquired diseases. By addressing the root cause of ...

Some malignant tumors found in brain cancer patients or in some types of leukemia have specific mutations in the IDH1 or IDH2 genes. Mutations within these genes cause an overproduction of ...

Immune cells are vigilant sentinels stationed at their tissue posts, such as the skin, lungs, or gut, or circulating in the bloodstream. Their presence and ability to quickly mobilize are key defenses ...

A new study by investigators from the Mass General Brigham Neuroscience Institute has identified common genetic variants in ...