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Clinical genetics news

Researchers uncover a substantial genetic component to postpartum psychosis

Researchers at the Icahn School of Medicine at Mount Sinai have uncovered a substantial genetic component to postpartum psychosis, a rare but severe psychiatric illness that occurs in the days to weeks after childbirth. The ...

Scientists uncover how Alzheimer's may quietly begin years before memory loss appears

A new Columbia study has found clues of Alzheimer's beginnings, revealing how tau filaments—protein clumps that are closely linked to memory decline in Alzheimer's disease—get their start. The finding raises the prospect ...

New genetic map of the human eye reveals clues to vision loss

An international team led by University of Manchester scientists has created the most detailed picture yet of how genetic differences shape the way the human eye works. The breakthrough could help explain why millions of ...

AI model links tumor mutations to treatment response

Researchers at University of California San Diego have developed a new artificial intelligence (AI) model that can translate a tumor's complex genetic profile into predictions about how that cancer may respond to treatment. ...

How a father's obesity affects his children's metabolism

The scientific literature already contains robust evidence that obesity, whether maternal or paternal, can lead to metabolic changes in offspring that increase their risk of developing diseases. A new study published in the ...

AI uses everyday language to make genetic diagnosis easier

A new computational tool called MARRVEL-MCP helps researchers move toward genetic diagnoses more efficiently by analyzing and interpreting vast amounts of genetic and biological information using everyday language. The study, ...

Why does ALS pathology spread differently among patients?

A research team at the Brain Research Institute, Niigata University has found that APOE ε4, a genetic factor best known for increasing the risk of Alzheimer's disease, may also influence how pathological changes spread in ...

New drug target identified for Fragile X syndrome

UCLA Health researchers have identified a potential drug target for treating Fragile X syndrome, the most common genetic cause of intellectual disability and autism that affects roughly one in 2,000 boys.

Genome analysis uncovers new cause of rare movement disorder

Despite modern high-throughput sequencing, the genetic cause of most rare movement disorders remains unclear. A research team in Bochum and Tübingen has now solved one piece of the puzzle: The researchers examined 2,811 patients ...

Can science slow down aging? Q&A with geneticist

Geneticist Anne Brunet explores what aging really is, how lifestyle choices might influence longevity, and the promising frontiers of aging research. Aging is a process that affects us all. But how many of us can clearly ...

What pet cats can tell us about human cancer

They live in our houses, drink our water and even sleep in our beds. Cats have become an integral part of many households and share much of our lives. They also share much of their biology with humans. Pet cats get cancer ...

High-altitude survival gene may help reverse nerve damage

A genetic mutation that helps animals like yaks and Tibetan antelopes survive at high altitudes may hold the key to repairing nerve damage in conditions such as cerebral paralysis and multiple sclerosis (MS). The finding, ...

Long-read genome sequencing uncovers new autism gene variants

Researchers at the University of California San Diego have identified new genetic variants associated with autism spectrum disorder (ASD) by using long-read whole genome sequencing (LR-WGS), an emerging approach that reads ...