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

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 ...

In a nutshell Scientists identified 473 “switch-like” genes that act more like on/off light switches than dimmers — either ...

Madison Sisson tells PEOPLE why she began sharing her journey raising two sons with leukocyte adhesion deficiency on TikTok.

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

Too many people are missing out on a potentially life-changing opportunity to prevent cancer,” said Sir John Burn.

A terminally ill 26-year-old woman from East Sussex who is sailing solo around the British Isles has said a "horrific week of ...

Turner syndrome is a rare genetic disorder found in some women and people assigned female at birth. It can cause short stature and a range of health issues including heart defects, learning ...

A terminally ill 26-year-old woman from East Sussex has set off on a solo voyage sailing around the British Isles. Jazz Turner, an engineer from Seaford, lives with Ehlers Danlos Syndrome, a ...

Familial Thyroxine-Binding Globulin Deficiency in a Patient with Turner's Syndrome (XO) — Genetic Study of a Kindred Authors: Samuel Refetoff, M.D., and Herbert A. Selenkow, M.D. Author Info ...

Prader-Willi syndrome is caused by changes in gene expression in a specific portion of chromosome 15. Starting in childhood, it often leads to extreme, insatiable hunger.(Image credit: Catherine ...

While Turner syndrome is considered a genetic disorder, most cases are not inherited. (1) A missing X chromosome results from a random event during the formation of the eggs or sperm in one of the ...