Mutations in disease

Mutations in disease

The loss or aberration of protein function through mutation occurs in many diseases, including cancers. However, it is difficult to determine which genes and mutations are responsible for disease-linked phenotypes when many mutations and variations are present, such as in cancers and in unsolved heritable diseases. Dr. Ashworth combines protein-based biophysical and functional predictions with genomic and system-wide molecular data in order to infer, identify and strengthen links between genetic mutations and their phenotypic effects in disease. This includes the investigation of mutations linked to the hallmarks of cancer in the The Cancer Genome Atlas, as well as the functional impacts of novel mutations in the genomes of families affected by heritable diseases.

Publications