Margaret Wallace,

Fun Fact: I love all kinds of animals except wasps (and maybe scorpions and certain spiders). I am a human molecular geneticist, and the lab studies neurofibromatosis type 1 (NF1), a common dominant tumor syndrome. This progressive condition is caused by mutations in the NF1 tumor suppressor gene, encoding a large protein that is not well understood. We utilize genetic and cell biology approaches, using samples donated from patients. Both the mutation repertoire and the clinical features are heterogeneous, and we are testing for phenotype-genotype correlations within families with NF1. I am also involved in projects aimed at understanding genetic contributors of multifactorial disorders, such as in pain-related conditions.

The lab works on neurofibromatosis (NF) as well as other human genetics projects (Mendelian disorders and multifactorial traits). The lab focuses on finding and characterizing genes and their mutations/variants/mechanisms that contribute to health and disease, through approaches of molecular genetics/genomics, cell biology, and animal models. Besides NF, projects have focused on genetics of pain, taste, vitiligo, cardiomyopathy, and cataracts. Dr. Wallace works closely with clinicians, and recruits her own subjects as well. Approaches in the lab include mutation analysis (including exome), variant characterization to evaluate potential pathogenesis, genetic association, RNA-level analyses, and cell culture from primary tissues and cell immortalization.

0000-0002-5202-8895

• Genetics