Gene Discovery Solves 51-Year-Old Clinical Mystery

https://www.jci.org/articles/view/129961/figure/3

By Nicholas Weiler and Matt Wood

The cause of the pancreatic inflammation plaguing a rural California family has been a medical mystery since it was first described 51 years ago. Now genetic sleuth-work by researchers from UC San Francisco and the University of Chicago has solved the mystery: pointing to a novel gene mutation as the cause of the family’s inherited pancreatitis.

Pancreatitis is a disease that causes the pancreas to become inflamed, triggering severe abdominal pain. Long-term pancreatitis can cause the organ to stop functioning altogether, leading to diabetes, and in many cases, pancreatic cancer. It is most often caused by alcohol abuse, but several forms are caused by genetic mutations. Read more here: https://www.ucsf.edu/news/2019/10/415736/gene-discovery-solves-51-year-old-clinical-mystery