New Scientist on MSN

I have a 100 per cent chance of getting cancer due to a rare gene

A rare variant of a gene called TP53 means Tracy Hutchinson has an extreme risk of developing cancer anywhere in her body, ...

Scientists Uncover a Rare Genetic Key to Longevity That Could Delay Chronic Disease by 13 Years

Researchers recently identified 12 genetic variants linked to longer lives, potentially paving the way for anti-aging ...
Science Daily

Long-lived families reveal a rare genetic clue to healthy aging

A study of long-lived families has identified rare genetic variants that may help people stay healthier for much longer as they age. One standout mutation appears to temper inflammation, potentially ...

HERC2 gene's key role in rare neurodevelopmental syndrome deciphered

For years, it has been known that mutations in both copies of the HERC2 gene are associated with a neurodevelopmental ...
Us Weekly on MSN

Influencer Justene Alpert ends pregnancy over fetus' rare genetic disease

Influencer Justene Alpert Trueblood is opening up about her decision to have an abortion after the fetus was diagnosed with a ...
The Scientist

Rare Gene Variants Linked to Spontaneous CSF Leaks

Whole-exome sequencing revealed variants in a gene that compromise connective tissue integrity and may increase a person’s ...

Genomic tool highly effective at detecting rare disease diagnoses

A newly developed open-source tool designed for rigorous reanalysis of genomic data is highly effective at detecting new rare disease diagnoses. The tool's ability to frequently and automatically ...