Jelte, a five-year-old from the Netherlands, died on June 16 ...

Dutch child influencer Jelte, who touched thousands of followers by documenting his life with a rare genetic disorder, has ...

As newborn screening and rapid DNA sequencing become routine, we are poised to catch and treat inherited diseases at their earliest stages. Today, we can intervene in the first days or weeks of life.

A new gene therapy has been used to successfully treat a deadly childhood liver disease in mice that model the disease, ...

Inherited Retinal Disorders (IRDs) are a leading cause of blindness in working age adults. With the emergence of therapeutic approaches and pre-implantation genetic testing, obtaining a molecular ...

A new long-read DNA test improves rare disease diagnosis, replaces multiple existing tests, and could become the preferred ...

Sickle cell disease is a blood disorder that affects millions across the globe. Dr Nakul Pathak helps spread awareness of the ...

Genetic testing can help doctors diagnose some neurological disorders, such as Huntington’s disease. It can also provide insights into a person’s risk of future health conditions. Genetic testing ...

A new gene therapy appears to be safe in patients diagnosed with Friedreich ataxia cardiomyopathy, a progressive and fatal inherited cardiac disease, according to a phase 1 clinical trial led by Weill ...

Certain rare genetic disorders may cause a child to develop obesity. Health experts may refer to these conditions as syndromic childhood obesity. They may affect a child’s metabolism or cause them to ...

In the largest genetic study of inflammatory bowel disease (IBD) traits to date, researchers have identified a genetic marker ...