TalkDr. Kate Rauen In The News
Congratulations to our Medical Director, Dr. Kate Rauen, and her team of researchers. Their recent discovery of the genetic basis for cardio-facio-cutaneous (CFC) syndrome continues to receive attention from the medical community.
UCSF Today has an article (with great imaging) about the promise Kate’s research holds:
[u]nlike Down syndrome, many instances of developmental delay are due to small mutations in DNA. These small mutations often consist of no more than a single missing or substituted letter within the string of DNA alphabet building blocks that make up long sequences of genetic code.
Until recently, it was too difficult to track down such small genetic errors that are behind so many cases of developmental delay.
By using the latest “microarray” laboratory techniques – developed and refined by UCSF Comprehensive Cancer Center colleagues Donna Albertson and Daniel Pinkel — Rauen and her fellow genetic sleuths are succeeding at last in their searches.
Many of the syndromes these researchers investigate are rare. But when their numbers are combined, these disorders account for many thousands of cases of developmental delay in the United States alone.
…
Because the same misguided biochemical chain of events that causes CFC when mutations are inborn also contributes to cancer when it occurs later, there is hope that certain drugs under development to target cancer might also be used to limit the severity of CFC.
Technorati Tags: kate rauen, cardio-facio-cutaneous syndrome, CFC, cancer, treatment, genes, cause
