American Fellowship, American Association of University Women. Young Investigator Award, National Neurofibromatosis Foundation. Postdoctoral Basic Research Award, American Society of Human Genetics. This condition is caused by mutations in the NF1 gene, a large complex gene whose protein is not well understood. We are using genetic and cell biology approaches to study this condition, using a large set of patient samples.
Some neurofibromas become massive and undergo malignant transformation.
This is leading to discovery of novel genes and study of known genes that are implicated in tumor development. Other NF1 work planned or underway with collaborators involves understanding the protein-level result of various mutations, attempting to use human tumor cells to develop a mouse model, use of antisense approaches to mimic NF1 knockout in cultured cells, searching for epigenetic effects at the NF1 and other loci, and investigating the role of steroid hormones in tumorigenesis. A future goal is to employ cDNA array technology to understand global transcript changes in cardiomyopathy, to identify therapeutic targets. Clinical and molecular genetic studies of a large family with restrictive cardiomyopathy. Clin Genetics, in press.