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 ...

For over a hundred years, the specter of a schizophrenia diagnosis has frightened patients and their families. Yet it confers ...

Researchers identify a repeat expansion in the GOLGA8A gene as a major genetic driver for a rare, early-onset form of frontotemporal dementia.

Researchers at VIB and Antwerp University have identified a major genetic risk factor for a rare form of frontotemporal ...

Alzheimer’s Disease (AD) is a complex neurodegenerative disorder and the leading cause of dementia worldwide. Despite extensive research, the pathophysiology of AD remains incompletely understood, ...

In December Christopher Schuman, from Reading, donated his kidney to his brother Jeremy, who believes he was at "death's door". This act of kindness was far from unique for their family, as in 2011 ...

Researchers developed brain organoids from patient samples to model genetic subtypes of autism spectrum disorders (ASD), creating a translational platform that better reflects the human-specific ...

Biologists at the National University of Singapore (NUS) have uncovered how the protein NuSAP safeguards tiny structures inside cells called centrioles, revealing a mechanism linked to developmental ...

Scientists have uncovered the oldest known genome of the bacterium responsible for syphilis, revealing a previously unknown lineage that existed thousands of years ago in the Americas.

Genome editing-based therapies typically aim to treat disease by correcting underlying genetic mutations in patient's cells.

A new method for safely inserting large chunks of DNA into genomes has now measured up in mice, potentially paving the way ...

This year’s Rare Disease Day event Feb. 27 at the Jacobs School of Medicine and Biomedical Sciences focused on updates in research and diagnostics, and advancements in treatment.