Division of Medical Genetics

RESEARCH INTERESTS

David G. Brooks, M.D., Ph.D.

Dr. Brooks is interested in genetic variation in disorders of iron homeostasis. He is developing a complex-trait-paradigm analysis of genes that control iron homeostasis as risk factor for human disease. Starting with Mendelian traits such as hereditary hemochromatosis and hyperferritinemia cataract syndrome we are studying the genetic control of expression of genes that mediate iron absorption, storage, detoxification. He is currently developing high throughput mutation screening for the human ferritin gene to map genetic variation as a risk factor for cataract and disorders of iron homeostasis. He has identified the third neonatal hemochromatosis patient with a mitochondrial DNA mutation and is developing an animal model of this disorder as well as high throughput mutation screening of the human mitochondrial genome for neonatal hemochromatosis. Future studies will use microarray based expression profiling of the complete catalog of genes controlling iron homeostatsis as risk factors for human disease. These profiles will be used to investigate the pathogenesis and to follow response of patients to therapies such as iron supplementation/chelation, phlebotomy and antioxidants.