Mendelian disease

April 30, 2020

EHRs, biobanks and Mendelian diseases

Electronic health records and biobanks can be effectively combined to detect and study Mendelian diseases such as cystic fibrosis.

By Leigh MacMillan
January 13, 2020

Vanderbilt-led team discovers new genetic disease and defines underlying mechanism

An international research team has discovered a new genetic syndrome caused by mutation of a single gene and named it CATIFA, an acronym for its core symptoms.

By Leigh MacMillan
December 12, 2019

Gregor Mendel would be proud

A computational method that uses hospital billing codes and electronic health records can identify genetic disease cases before clinical teams do.

By Paul Govern