Changing the Face of Costello Syndrome

By Jeffrey Norris, Science Cafe | June 30, 2007

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.

Read more at Jeffrey Norris, Science Cafe