Last update:

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 ...

Researchers uncover novel pathway that causes epilepsy

Researchers have uncovered a novel biological pathway that can lead to seizures when disrupted. The findings also provide a new approach to improve the diagnosis of epilepsy, for which a genetic cause cannot be found in about ...

Links between genetics and cognition change across childhood

Rare DNA changes are most strongly linked to cognition in early childhood, but the link fades as children age, while common DNA changes show stronger links later in childhood, a new study finds. The research was reported ...

Genetic mapping identifies new hope for bone diseases

In a global breakthrough published in Nature Genetics, researchers have successfully mapped the cells and genes that regulate bone formation and loss at an unprecedented scale and discovered the critical role that blood vessel ...

Researchers discover new form of hereditary prostate cancer

Researchers at the University of British Columbia have identified a new form of hereditary prostate cancer that, while rare, can cause aggressive disease at a young age. The discovery paves the way for genetic testing programs ...