Human cells have two copies of each chromosome, and this balance is essential for genes to be expressed in the appropriate ...

People typically die from progressive supranuclear palsy within 7 to 10 years. There is currently no specialized treatment or effective screening for this neurodegenerative disease.

Sickle cell disease—the subject of a new Seminar in The Lancet—is one of the most prevalent and fastest-growing genetic disorders worldwide. Although its true prevalence is difficult to determine ...

My journey has been a long one. I am a paediatric immunologist and principal investigator of a PID research laboratory, and ...

A two-year-old girl who died from a rare genetic mutation just three years after the same condition claimed her three-year-old brother will have her death examined at an inquest.

A new study published in Neurology, led by Queen Mary University of London, has revealed that people of South Asian, African ...

Every new discovery in genetics brings scientists one step closer to understanding complex conditions and improving the lives ...

Patients with a clinical diagnosis of macular inherited retinal disease are at higher risk of receiving inconclusive testing results compared with those with peripheral disease. Patients clinically ...

Objectives To evaluate the efficacy and safety of advanced therapeutic approaches for inherited retinal disease (IRD) using evidence from systematic reviews and meta-analyses. Design Umbrella review.

"Monogenic" diseases, triggered by mutations in just one gene, may actually be more complex than scientists thought. When you purchase through links on our site, we may earn an affiliate commission.

James Mills, a cardiologist for 35 years, knew he wanted to be a doctor when he was in first grade. “I was always fascinated by medicine,” said Mills, an associate professor of medicine at Robert Wood ...