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 ...

Since its launch in 2022, the programme has reduced the time to diagnosis from a global average of 7.6 years to just weeks.

Emily Kramer-Golinkoff can’t get enough oxygen with each breath. Advanced cystic fibrosis makes even simple things like walking or showering arduous and exhausting. She has the most common fatal ...

A doctor who had a genetic condition that prevents teeth from forming searched for the DNA mutation that had affected his family for over 150 years.

Last year an international team of researchers reported that older dads are much more likely to father a child with mental health issues and learning disabilities. Now it looks like teen dads may risk ...

An estimated 170,000 Australians were diagnosed with cancer in 2025. Many people know the causes of cancer are partly genetic. But how do your genes, which contribute so much of what makes you you, ...

Being invited to present research at an international academic conference is an honor for any seasoned professional. But for ...

The sperm of a man carrying a rare genetic mutation linked to cancer was used to conceive scores of children across Europe, prompting calls for greater regulation and a limit on the number of births ...

Sperm from a single donor in Europe has reportedly been used to conceive at least 67 pregnancies, although the donor carried a rare cancer-causing mutation. The donor’s mutation has been linked to ...

The future of personalized medicine is rapidly becoming a reality, powered by advances in genetic testing and healthcare. Once limited to research labs, genetic insights are now transforming how ...

Integrating new AI screening tools for BRCA and HRD breast-cancer mutations into routine care could lead to earlier detection, more precise treatment, and lives saved. If they are aware of the threat, ...