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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 ...

Our genes may shape what we eat and our metabolic health

Ever wonder why some people crave sweets while others can take them or leave them? Preliminary findings from a new study suggest that people who carry certain genetic variants associated with a preference for sweet or fatty ...

Misfolded DNA blueprint: A new origin for genetic disease

Congenital heart disease is the most common birth defect, affecting approximately 1 in 100 babies born each year. One of the many causes of this disorder is having only one functional copy of the gene TBX5, rather than the ...