(Kateryna Kon/Science Photo Library/Getty Images) Researchers are beginning to realize that even vastly different psychiatric ...

A new statistical framework could speed up the search for rare mutations that cause common diseases, helping researchers zero ...

In Sweden, more than 500,000 individuals live with a rare condition. Globally, approximately 7,000 distinct rare diseases ...

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 ...

Autoimmune diseases are caused when the immune system mistakenly identifies healthy cells, tissues, or organs as foreign bodies and then attacks them. The most common autoimmune conditions are ...

Children with rare genetic disorders often face years of uncertainty before receiving a diagnosis, leaving families without clear information about disease progression, treatment options, prognosis, ...

Until recently, even the most advanced gene therapies could only be given after a child was born—often racing against time to prevent irreversible damage. In the first part of this series, we explored ...

A five-year-old boy was diagnosed with an incredibly rare genetic condition after his parents noticed he wasn’t “laughing or ...

There are some 80 human diseases that in one way or another are considered autoimmune. Perhaps the most common indication of an autoimmune pathogenesis is the presence of circulating antibodies that ...