For the last 10 years, the only effective treatment for hypophosphatasia (HPP) has been an enzyme replacement therapy that ...

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 ...

PIP claims range from £28.70 to £184.30 per week, meaning successful applicants could receive between £114.80 and £737.20 every four-week pay period. PIP is designed to assist individuals with daily ...

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

Access to genetic testing brings with it several advantages – one being early diagnosis for young patients with potentially life-threatening multi-system conditions. Retinal-renal syndrome ...

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 ...

The study identifies 106 genetic variants linked to occupational status, highlighting the interplay between genetics, family environment, and childhood aspirations.

Scientists have found 697 genetic variants – or small changes within a gene – linked to depression, of which almost 300 were previously unknown. A Queensland scientist described the project as ...

The Department for Work and Pensions (DWP) has confirmed that over 1.1 million adults across Great Britain are now receiving support through PIP ...

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 ...