Research

The Division of Genetic and Genomic Medicine is extremely active in the forefront of basic science and clinical research for a wide variety of disorders and genetic problems, both in children and adults. Through close collaboration, both with local organizations and international groups, the Medical Genetics team works hard to better understand rare diseases, the mechanisms that drive genetic disorders, as well as developing and evaluating therapies for those affected by a genetic condition. 

Through the work of many dedicated researchers, physicians, dieticians, nurses, and other staff, the Division of Division of Genetic and Genomic Medicine continues to demonstrate a commitment to helping individuals affected by unique rare diseases with over 80 active research projects. Basic research activity in our Division focuses on better understanding of the impact of genetic variation and disease process, with the overall goal of developing innovative therapeutic strategies for a variety of inherited diseases.

Laboratory-based Research

Basic research activity in our Division focuses on better understanding of the impact of genetic mutation and disease process.

Patient-oriented Research

Patient-oriented research has the primary goal of understanding the experiences of those affected by rare diseases.

Translational Research

Our work in translational research seeks to utilize our understanding of rare disease processes to develop interventions to improve patient lives.

Collaborations and Affiliations

The Division collaborates with the Neurodevelopemntal Research Program (NDRD) and International Network for Fatty Acid Oxidation Research and Management (INFORM).