Rett syndrome is a devastating rare genetic childhood disorder primarily affecting girls. Merely 1 out of 10,000 girls are ...

A terminally ill sailor has completed her solo voyage around the British Isles, becoming the first disabled person ever to ...

Rett syndrome is a devastating rare genetic childhood disorder primarily affecting girls. Merely 1 out of 10,000 girls are ...

Beth Rodgers (32) paid a business in England £4,600 to be matched with an egg donor before they refused to answer her calls ...

AI-enabled drug discovery approach identified potentially game-changing treatment which has been advanced from the lab bench to an FDA Orphan Drug ...

Our list of the best movies on Disney Plus is a lot more varied than you might think! Disney is best known as the home of ...

Jazz wanted her mission to inspire those who face challenges, while educating people about having a life-limiting disability, ...

Eggs and embryos from people with polycystic ovary syndrome have altered patterns of so-called epigenetic tags, which could explain how the condition is inherited ...

Prof. Moran Hausman-Kedem, a pediatric neurologist involved in the research, emphasized the clinical value of the model: “For rare diseases where patient populations are too small for large-scale ...

Here we highlight a pioneering collaborative project in Kenya, with a focus on expanding cancer genetics services and research into retinoblastoma, a prototypical heritable cancer syndrome.

A team of scientists at the MRC Laboratory of Medical Sciences (LMS) has uncovered a previously unknown mechanism that ...

Mismatch repair germline alterations in patients with Lynch syndrome may contribute to the development of uveal melanoma, a study suggests.