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Clinical genetics news

Patchy brain development may help explain autism's varied traits

Autism spectrum disorder (ASD) affects every individual differently. Scientists have identified more than a thousand genes associated with ASD, yet no single gene accounts for most cases. This has left researchers with a ...

Rare gene variants may multiply Alzheimer's disease risk

Alzheimer's disease is the most common form of dementia worldwide, and its development is influenced by a combination of genetic and environmental factors. In recent years, the PLCG2 gene and its encoded enzyme, PLCγ2, have ...

What is sudden adult death syndrome?

When Mark Hughes, the former Manchester United and Wales manager, lost his 38-year-old son, an inquest found the cause was sudden adult death syndrome, or SADS.

New approach opens rare immune cells to genetic risk research

Much of how genetic risk leads to disease has remained hidden. In many cases, genetic variants linked to disease do not act on nearby genes along the chromosome. Instead, they influence genes located far away along the DNA ...

Genetic variants shed light on kidney transplant rejection

Immunosuppressive medications help prevent organ rejection following transplantation, yet some patients still experience rejection despite receiving adequate treatment. New research from Yale, published in the Journal of ...

Finding new osteoarthritis medicines via AI and genetics

Osteoarthritis (OA) is a chronic, painful joint disease and a leading cause of disability. Despite its prevalence, therapies for osteoarthritis are limited and focus on symptom management. Now, researchers are combining genetic ...

Human genome milestone opens door for personalized genomics

Scientists have reconstructed the complete genome of a real person, with full sets of chromosomes from each parent, a breakthrough expected to advance research, improve the diagnosis of genetic diseases and make personalized ...

Fragile X deficits in mice respond to gene therapy

A gene therapy designed to replace a missing brain protein restored normal brain activity and improved behavior in a mouse model of fragile X syndrome (FXS), according to a study led by researchers at the University of California, ...

New open tool can facilitate the reuse of genomic data

The GCAT|Genomes for Life team, a strategic project of the Germans Trias i Pujol Research Institute (IGTP), has developed PolyGenie, a new tool designed to facilitate the exploration and reuse of genomic data by the research ...

Genetic marker may flag severe IBD earlier in some patients

In the largest genetic study of inflammatory bowel disease (IBD) traits to date, researchers have identified a genetic marker associated with more severe ulcerative colitis and Crohn's disease—the major forms of IBD.