Changing the Face of Costello Syndrome
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.
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.
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Related Links
- Costello Syndrome
- BBC Health
- Rare Diseases: Costello Syndrome
- About.com
- 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