Summary: Some diseases are so rare and unusual that doctors have never seen anything like it. An excruciating journey for both families and doctors, figuring out what’s wrong can take years, if an answer is ever found at all. Using a computer tool developed by <a href="http://quinlanlab.org/">Aaron Quinlan, Ph.D.</a>, he and his team recently uncovered the genetic causes behind nearly one dozen previously unsolved cases, all infants with severe seizures. Quinlan describes <a href="http://gemini.readthedocs.io/en/latest/">GEMINI</a>, and how it is helping he and his colleagues at the <a href="http://ucgd.genetics.utah.edu/">USTAR Center for Genetic Discovery </a> to understand rare disease genetics.
