Research

Division faculty are involved in many basic and clinical research projects within the field of medical genetics. Projects are summarized below. For details, visit the Current Research section of each individual's faculty biography.

• Renata Gallagher, MD, PhD is a biochemical geneticist and conducts research related to inborn errors of metabolism. These disorders are due to mutations in genes encoding enzymes or transporters critical for proper function of one or more biochemical pathways. She has long-standing research interests in newborn screening for inborn errors of metabolism, in urea cycle defects, in mitochondrial disorders, in lysosomal storage disorders, and in disorders of neurotransmission. She is interested in improved diagnosis and management of these and other conditions. She is part of a team funded through a Chan Zuckerberg BioHub Intercampus Research Award that seeks to improve the interpretation of genetic variation with a goal of improving and expanding newborn screening for inborn errors of metabolism, and is a member of the NIH funded NBseq project that has explored DNA sequencing as an alternative or adjunct to current newborn screening by analyte. She is also interested in understanding and elucidating the basis of liver injury in urea cycle defects, and in optimizing the identification and treatment of pyridoxine-dependent epilepsy, a treatable cause of early infantile epileptic encephalopathy.
• Ophir Klein, MD, PhD's research is focused on two areas: (1) understanding the processes underlying craniofacial and dental malformations, using mouse models to study the mechanisms responsible for the normal and abnormal development of teeth, facial skeleton and other organs, as well as the regeneration of these organs, (2) studying the function of Sprouty genes, which are antagonists of receptor-kinase signaling. Dr. Klein and his colleagues are working to understand the roles of these genes in embryonic development, adult homeostasis, embryonic stem cells, and cancer.
• Joseph Shieh, MD, PhD's research program seeks to understand how genetic and epigenetic alterations in the human genome influence health. Using large-scale genomic studies and novel molecular analyses, the Shieh laboratory strives to develop strategies to predict disease and response to therapies.
• Anne Slavotinek, MD, PhD's research is focused on the molecular genetic etiology of two multiple congenital anomaly syndromes: anophthalmia (absent eyes) and microphthalmia (small eyes).
• Jessica Tenney, MD