Thousands of times per year, a family’s moment of joy turns to unexpected grief. A seemingly healthy infant stops smiling or ...

Werner Syndrome is a rare genetic disorder that causes rapid premature ageing. It has no known cure and is what a South ...

A group of Queen’s researchers is hoping to use gene therapy and new grant money to cure a handful of rare, usually fatal ...

A new computational tool called MARRVEL-MCP helps researchers move toward genetic diagnoses more efficiently by analyzing and ...

Congenital heart defects (CHDs) represent the most prevalent class of birth anomalies, affecting approximately 1 in 100 live births worldwide. A substantial proportion of these defects arise in the ...

The majority of rare diseases have a genetic cause. The underlying genetic alteration can be found more and more easily, for example by means of exome sequencing (ES), leading to a molecular genetic ...

Scientists have unveiled a powerful new tool called PerturbFate that could change how researchers tackle diseases driven by ...

Significant genetic correlations were found between pediatric neuropsychiatric conditions and various ocular disorders.

A new study suggests that certain genetic diseases may be treatable with carefully matched vitamins, including a deadly ...

Ehlers-Danlos syndrome (EDS) is a genetic condition present at birth that involves problems with the body’s connective tissues. Connective tissues make up and support how the body is held together — ...

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 ...