We are in the midst of a genomics revolution with new technologies enabling discoveries in human genetics with unprecedented speed and scope. Faculty in the Department of Genetics and Genome Sciences are working to apply these cutting-edge techniques to identify new genetic causes of disease and better understand how an individual’s genetic makeup contributes to their disease susceptibility.
Studies of both rare and common diseases can lead to new mechanistic understanding of disease pathology, the discovery of gene functions, the improvement of disease prediction modeling, and the identification of new therapeutic targets. In our department, David Buchner identifies new genetic causes of rare pediatric endocrine disorders including infertility, growth, and skeletal disorders. Anthony Wynshaw-Boris and Ashleigh Schaffer study human brain development, with Professor Wynshaw-Boris focused on autism and brain overgrowth and Professor Schaffer focused on rare pediatric neurological disease.
One disease that is a particular focus of research in our department is cystic fibrosis. Ann Harris utilizes genomic approaches to understand what controls the expression of the cystic fibrosis gene and also other genetic factors that modify disease severity. Craig Hodges specializes in making and studying new animal models of cystic fibrosis. Shih-Hsing Leir researches the causes of infertility in men with cystic fibrosis. Mitch Drumm is focused on applying our molecular knowledge of the cystic fibrosis gene and other modifier genes to the development of new therapeutics targeted for the treatment of cystic fibrosis.
Cancer genetics is another area of active research in our department, with the promise of improving individual cancer risk predictions and tailoring treatments to individual patients based on their genetic profile. Charis Eng works to identify and characterize genes that cause susceptibility to inherited cancer syndromes, with a particular focus on PTEN in breast, thyroid, and endometrial, among other cancers. Peter Scacheri studies how enhancers alter gene expression to influence cancer risk and progression. Anna Mitchell seeks to identify novel inherited mutations that contribute to familial cancers and related syndromes.
Anne Matthews directs the department’s genetic counseling program that trains the next generation of counselors to understand our rapidly progressing knowledge of how genetics influences disease risk and to effectively communicate this information to patients.