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

Dr Sudheendra Rao N R from the Organization for Rare Diseases India reveals that approximately 70 million are affected by ...

Rare diseases are genetic disorders that affect a small proportion of the population. Despite their rarity, they can be a ...

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 ...

Medically reviewed by Brigid Dwyer, MD Key Takeaways Huntington’s disease is a genetic condition that is inherited in an ...

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

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

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 ...

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.

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 ...

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, ...

Cabinet Peaks Medical Center is proud to offer a convenient, affordable, and accurate genetic testing option for men and ...