During a routine test, Johnny's middle school nurse discovered his severe scoliosis, a prevalent symptom of Marfan. This unexpectedly set his family on a path to uncover his underlying diagnosis at ...

Deciding to start a family is a big decision for any couple, but it’s even more nerve-wracking when the mom-to-be has a ...

What is Cushing's syndrome? Cushing's syndrome is a hormonal disorder. It’s caused when you have high levels of the hormone cortisol over a long time. Cushing's syndrome is fairly rare. It most often ...

PIP claims range from £28.70 to £184.30 per week, meaning successful applicants could receive between £114.80 and £737.20 ...

Your body is a collection of cells carrying thousands of genetic mistakes accrued over a lifetime—many harmless, some bad and ...

Polygenic scores (PGS) are metrics used to estimate the genetic predisposition of people to developing specific mental health conditions, personality traits or diseases. In recent years ...

For 30 years, researchers have known that Huntington's is caused by an inherited mutation in the Huntingtin (HTT) gene, but they didn't know how the mutation causes brain cell death. A study ...

In addition to opening a new window into how human genetic mutations can operate, the researchers hope that their insights lead to new strategies that improve or ultimately save the lives of people ...

delayed or incomplete penetrance in arrhythmogenic right ventricular cardiomyopathy (ARVC)), either due to a de novo mutation (relatively common in Marfan syndrome, frequent in 22q11 deletion syndrome ...

Chromosomes are tightly coiled structures in each of your cells that contain DNA, the code for all life. DNA is organized in segments on chromosomes called genes. Humans typically have 46 ...