Changing the Face of Costello Syndrome

By Jeff Miller

Katherine Rauen, MD, is a medical geneticist in the UCSF Department of Pediatrics with a special interest in three rare developmental disorders. One is known as cardio-facio-cutaneous, or CFC, syndrome, for which she and her team discovered the genes responsible last year. The other two are called Noonan syndrome and Costello syndrome.

Photo of Katherine Rauen

Katherine Rauen

In a recent conversation with Rauen, we discussed the relationship of her work to the greater understanding of cancer, why cases of Costello syndrome in newborns are likely being undercounted, and why UCSF is an ideal environment in which to continue her work.

We also discussed the significance of the first-ever International Costello Syndrome Research Symposium, which will be held in Portland, Oregon, later this summer.

Hear the conversation.

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Related Links

Costello Syndrome
BBC Health
Rare Diseases: Costello Syndrome
Costello Syndrome
Contact a Family Website
Costello Syndrome Support Group
Cardio-Facio-Cutaneous Syndrome
CFC International
International Costello Syndrome Research Symposium, Portland, Oregon
Researchers Discover Tiny Gene Mutations that Cause Birth Abnormalities
UCSF Today, October 10, 2006
HRAS and the Costello Syndrome
Clinical Genetics 71(2):101-108, February 2007
Distinguishing Costello Versus Cardio-facio-cutaneous Syndrome: BRAF Mutations in Patients with a Costello Phenotype
American Journal of Medical Genetics 140A(15):1681-1683, June 27, 2006
Germline Mutations in Genes Within the MAPK Pathway Cause Cardio-facio-cutaneous Syndrome
Science 311(5765):1287-1290, March 3, 2006