At 27, she lives with Marfan syndrome, a genetic disorder that affects the connective tissues that hold organs in place. An eye appointment as a teenager led to the diagnosis. “I thought I had ...

Marfan syndrome (MFS) is an inherited disorder caused by mutations in the FBN1 gene encoding fibrillin-1, a matrix component of extracellular microfibrils. The main cause of morbidity and mortality in ...

Department of Cardiovascular Medicine, The University of Tokyo, Bunkyo-ku, Japan. (H. Yagi, H.A., Q.L., A.S.-K., M.U., H.K., R.M., A.S., S.O., H.T., Norifumi Takeda ...

What is Zollinger-Ellison syndrome? Zollinger-Ellison syndrome (ZES) is a rare digestive disorder. If you have ZES, you likely have 1 or more tumors in the first part of the small intestine, the ...

Purpose: The incidence of lung cancer is closely associated with diabetes; however, it remains unclear whether diabetes influences the genetic mutations present in lung cancer. Therefore, we will ...

Mutations of other genes can increase the risk of getting Alzheimer’s but do not necessarily cause it. Only a few rare gene mutations are known to cause Alzheimer’s – and the GRIN2C mutation ...

Results from 4 healthy controls (WT; 1-4), 1 patient with Activating p110 Delta Syndrome 2 (APDS2) due to the p85α Δexon11 variant, and 3 patients with PIK3CA-Related Overgrowth Spectrum (PROS) caused ...

Germline mutations in the TP53 gene are uncommon and associated with a specific cancer syndrome known as Li-Fraumeni syndrome. People with Li-Fraumeni syndrome often develop cancer as children or ...

Britain’s National Health Service (NHS) announced on Thursday that it has begun offering individuals with Jewish ancestry swabs to check for mutations in their BRCA genes, which are associated ...

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 ...