GENE202 is a single dose gene therapy for patients with rare metabolic disease, methylmalonic acidaemia.

Iain Cheeseman and colleagues reveal the underappreciated role of single genes producing multiple proteins in atypical presentations of rare disease, and present case studies of affected patients ...

University of California San Diego-led team has discovered that restoring a key cardiac protein called connexin‑43 in a mouse ...

APOE's contribution to disease burden has been "long underestimated," researcher ...

No gene acts alone: interacting variants and protein partnerships can worsen, mask or even rescue disease risk, demanding ...

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 research is finally starting to explain how DNA risk scores translate into real disease, not just in single genes but across entire biological networks. Instead of treating each variant as an ...

A new study led by researchers at UTHealth Houston investigated both gene expression and regulation at single cell levels to ...