News

Calling All Ichthyosis Patients - Gene Discovery Opportunity

Date: 09/27/2012

Keith Choate, MD, PhD

Dr. Keith Choate and his team from Yale University are conducting a research study seeking to comprehensively understand the genetics of ichthyosis and the biological implications of mutations in these genes.

The study examines patient samples to identify mutations causing their skin condition and correlates these with physical findings in each person (their phenotype). To date, this program has identified three new genetic causes of ichthyosis and has ongoing studies to understand how these genes contribute to normal skin function and disease.

To date, the study has enrolled 507 families, providing a genetic diagnosis for 400.  “Learning more about the specific genetic causes of ichthyosis will enable future research to develop effective therapeutic pathways for treating ichthyosis,” says Choate.

Anyone affected with ichthyosis is invited to become a part of this study.  There is no cost to participate.

If you would like to participate, please email the research team at choatelab@yale.edu for more information.


In 2008, FIRST awarded Dr. Keith Choate of Yale University our inaugural Clinical Scholar Award, enabling him to continue his work, eventually receiving additional funding from other foundations including the Doris Duke Foundation. FIRST’s award and support has been instrumental in the sustained development of Dr. Choate’s Gene Discovery Project. In fact, Dr. Choate’s project began in a small room at the 2010 FIRST National Family Conference in Orlando, Florida.