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.
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.
Buff Up Your Website, Win Cash
Remember to buff up your UCSF science websites. We will soon begin evaluating them for a $750 prize. Here again are the criteria for the Yamamoto Challenge:
The contest, judged by representatives of the UCSF Department of Public Affairs, will evaluate research center, scientific institute (or program) and laboratory websites on the ucsf.edu domain in four major areas:
- Inclusion of the official UCSF web banner and adherence to standards for official UCSF websites
- Ease of navigation and frequency of maintenance
- Clarity of communication, architecture and design
- Appeal to the lay reader
The contest judging will begin the week of July 9. The winning site will be announced and showcased on the main UCSF webpage in mid-September. If there are sites you would like to nominate, please do so via the Science Café email.
- 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