We know that the genes we're born with contribute to the risk of psychiatric disorders during our lifetimes, and a new study ...

A new study challenges what's long been assumed about genetic variants thought to always cause inherited blindness.

An analysis of DNA from millions of individuals has identified shared genetic pathways across psychiatric disorders, findings ...

An international collective of researchers is delivering new insights into why having multiple psychiatric disorders is the norm rather than the exception. In a study published today in the journal ...

This year saw notable progress in head and neck cancers, Huntington's disease, personalized genetic therapy, and heart ...

Rare genetic disorders are typically caused by a variant in a single gene. It is estimated that there are over 7000 such conditions, meaning that although individually rare, they are collectively ...

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 ...

When a child inherits a genetic condition, it often means both parents unknowingly carried genetic variations that, when combined, led to the disease. Modern genetic testing now allows families to ...

Degenerative diseases are a group of conditions characterized by the progressive deterioration of cells, tissues and organs. While some degenerative diseases arise due to environmental factors or ...

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.

Wilson’s disease is an autosomal recessive disorder caused by ATP7B mutations, leading to copper accumulation in the liver, ...