In 2012, we continued to accrue several new FHLH and MAS patients to our study, after validating their lack of known mutations and the normal expression of various candidate genes. While continuing to accrue additional patients, we have initiated exome sequencing on these samples, with the goal of identifying new mutations responsible for disease. We have obtained a partial list of candidate genes, which we are have begun to winnow down by functional evaluations in vitro. In parallel, we have also prepared keratinocyte cultures from skin biopsies to improve the efficiency of generating induced pluripotent stem cells from normal healthy volunteers and patients.

Project Start
Project End
Budget Start
Budget End
Support Year
Fiscal Year
Total Cost
Indirect Cost
Zip Code