The findings one day could allow people with multiple mental health conditions to be treated with a single therapy, ...

An HIV-derived nucleoside therapy now treats rare genetic diseases by restoring mitochondrial DNA and improving muscle ...

Ultra-rare disorders are those affecting fewer than one person in 50,000. Sometimes, indeed, they are unique. And unique ...

Many genetic variants linked to inherited eye disorders rarely lead to disease, meaning up to 2% of people could carry these variants without ever developing vision problems, according to a new s tudy ...

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 ...

Genetic variants believed to cause blindness in nearly everyone who carries them actually lead to vision loss less than 30% ...

Scientists from UC Davis Center for Surgical Bioengineering, the MIND Institute and UC Berkeley’s Murthy Lab are developing ...

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 ...

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.

Adrenal insufficiency encompasses a spectrum of disorders in which the adrenal glands fail to produce adequate amounts of steroid hormones, notably glucocorticoids and, in some cases, ...

Add Yahoo as a preferred source to see more of our stories on Google. Less than 30% of people with certain genetic variants go blind, despite the faulty genes previously being thought to cause ...

Huntington's disease diagnosis is confirmed with a genetic test. A clinical history and medical evaluation are used to define symptom onset. Disease staging and surveillance for complications are ...