Neurofibromatosis Northeast and Neurofibromatosis Midwest are pleased to announce that they are funding Dr. Fawn Leigh of Harvard Medical School and Massachusetts General Hospital to support an integral component of her research, “Genetic Modifiers of Tumor Burden: Exome sequencing of those subjects with high and low dermal neurofibroma tumor burden in Neurofibromatosis type 1”
Dermal neurofibromas are near-universal in NF1, but tumor burden can vary greatly between similarly aged patients. Family studies have implicated a role for modifier genes in determining the variation in tumor burden in NF1. The identification of these modifiers of tumor development/growth could have a profound impact on our understanding of the mechanism of tumorigenesis and on the development of effective treatments. Modifier genes may also identify therapeutic targets to existing drugs and/or guide the discovery of new drugs.
NF Midwest and NF Northeast are providing funding for exome sequencing of selected samples that Dr. Leigh will use to generate preliminary data to strengthen the objectives of this project and provide the necessary data for extramural funding.
Dr. Leigh expects that the findings from exome sequencing will provide important clues to genetic factors affecting high cutaneous tumor burden, potentially leading to better treatment options. These discoveries will lead to improved understanding of the mechanisms underlying variation in NF1 and will potentially offer therapeutic targets to improvethe symptoms and quality of life of individuals with NF1 affected by high cutaneous tumor burden.