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Clinical genetics news

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 ...

mRNA therapy restores fertility in genetically infertile mice

Researchers have found that targeted delivery of messenger RNA (mRNA) can restore sperm production and fertility in genetically infertile male mice. The findings, published in Stem Cell Reports, demonstrate that transient ...

Life-changing drug identified for children with rare epilepsy

A new experimental treatment for children with a hard-to-treat form of epilepsy is safe and can reduce seizures dramatically, helping them lead much healthier and happier lives, according to the findings of a UCL (University ...

A promising potential therapeutic strategy for Rett syndrome

A team of researchers at Baylor College of Medicine and the Duncan Neurological Research Institute (Duncan NRI) at Texas Children's Hospital reports in Science Translational Medicine a potential new approach to treat Rett ...

Genetic study shows that anxiety disorders have many causes

About 1 in 4 people suffer from an anxiety disorder at some point in their lives. These include panic disorder with sudden, severe anxiety attacks; generalized anxiety disorder, in which sufferers worry about everyday things ...

How a tiny cellular signal helps shape the human heart

Australian researchers have uncovered a crucial new mechanism that helps explain how the heart's major blood vessels form during early development, and how disruptions to this process can lead to serious congenital heart ...

Mutation map shows how key cancer gene drives tumor growth

Scientists have created a complete map showing how hundreds of possible mutations in a key cancer gene influence tumor growth. The study focused on CTNNB1, a gene that produces the protein β-catenin, which helps regulate ...

Decoding the molecular signatures of night blindness

Congenital stationary night blindness (CSNB) is caused by mutations in a specific calcium channel. A comprehensive proteomic study by researchers at the University of Innsbruck now reveals how these mutations trigger complex, ...

RNA therapy may be a solution for infant hydrocephalus

Hydrocephalus is a life-threatening condition that occurs in about 1 in 1,000 newborns and is often treated with invasive surgery. Now, a new study offers hope of preventing hydrocephalus before it even occurs. The paper ...