A Denali Therapeutics drug for the rare enzyme deficiency Hunter syndrome is still in pivotal testing, but the company has guidance from the FDA on a pathway to get this therapy to the market sooner.

Living cells contain a world of complex parts, which are constantly in motion. Many functions of these parts are still not fully understood, but likely harbor answers to many of our questions about ...

To protect this child from the same genetic disease that killed two older siblings, treating her as soon as she was born might only work so well, the doctors knew. So they dialed back the therapeutic ...

The journey of rare disease patients and their families can be a long one marked by misdiagnoses, and so it is for those who have the ultra-rare disorder with the abbreviated name PMM2-CDG. This ...

In certain groups of men, glucose-6-phosphate dehydrogenase (G6PD) deficiency was linked with an increased likelihood of severe COVID-19, a Veterans Affairs cohort study found. In Black men under 65, ...

Magnesium deficiency can cause fatigue, brain fog and irritability, and older adults, women in menopause and people with ...

Scientists at the Francis Crick Institute have found a new treatment target for CDKL5 deficiency disorder (CDD), one of the most common types of genetic epilepsy. CDD causes seizures and impaired ...