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 hosting a clinical and genetics study dedicated to an increased understanding of ichthyosis.

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. 

The study has two parts – the first part works on finding the genetic basis of ichthyosis and the second part is focused on understanding how mutations in specific genes genotype) give rise to unique physical findings in each person (phenotype). 

Since that time the research has incurred tremendous growth, recruiting 375 total families and, so far, determining a genetic diagnosis for 247 of those families.  Since 2012, Dr. Choate and his team have also identified three new genes which cause ichthyosis.

Additionally recent advances in genetic sequencing technology has made genetic diagnoses faster and much less expensive. Of the 247 families who were able to obtain a genetic diagnosis from Dr. Choate and his team, 80% of them were able to get that diagnosis through their “pre-screening” process, which looks at the 11 most common genes that cause ichthyosis. “This ‘pre-screening’ test now costs the Yale lab between $30 and $50, which is a huge drop in costs from a decade ago. And 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 exciting study, which includes genetic screening to confirm and/or search for the mutation that causes your particular ichthyosis.

In order to be eligible, you must have a diagnosis of ichthyosis or other disorder of keratinization to participate.  You must also currently be under the care of a dermatologist.

At this time the study is not enrolling patients with diagnoses of ichthyosis vulgaris nor X-linked ichthyosis. The study is particularly interested in enrolling people who have severe forms of ichthyosis or unclassified forms as well as those who have never had genetic testing or who have had genetic testing without finding a disease-causing mutation.

If you feel that you meet the above criteria, please email Dr. Craiglow at for more information.