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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 ...

New biobank of tumor models reveals cancers' weak spots

A new open resource of cancer models has enabled researchers to create the first large-scale map of the genes that cancers rely on to survive, offering new avenues for research into better and less toxic treatments for patients.

Parkinson's gene linked to early dysfunction in brain cells

Northwestern Medicine scientists have uncovered how a major Parkinson's disease gene disrupts the brain's most vulnerable dopamine-producing neurons before detectable neuronal loss. The study offers new clues for developing ...

Somatic mutations linked to vascular damage in progeria

Hutchinson–Gilford progeria syndrome (HGPS) is a genetic disorder that causes remarkable premature aging. Most patients die during their teenage years from cardiovascular disease, but the precise mechanisms underlying vascular ...