Dr. Krantz's lab identifies and characterizes the molecular etiology of syndromic and non-syndromic developmental disorders. He has identified genes for several genetic conditions (Cornelia de Lange Syndrome, CHOPS syndrome, Alagille syndrome, hearing loss) implicating critical molecular pathways in human disorders for the first time. He has been at the forefront of studying the integration of genomics into clinical settings.
Dr. McCormack investigates the intersection of neuroendocrinology and metabolism. Her translational research program involves two areas. The first involves studying those with genetic disorders, including primary mitochondrial diseases and Friedreich's ataxia, with characterized risk for diabetes mellitus. Second, Dr. McCormack focuses on brain disorders associated with excess weight gain, including brain tumor-related hypothalamic obesity syndrome and idiopathic intracranial hypertension.
Dr. Choi's research focuses on the role of RNA-binding proteins in the regulation of alternative splicing and how mutations in these factors contribute to cancer. He uses a combination of genetically-engineered models and high-throughput approaches to better understand how alternative splicing influences cellular function and to identify potential opportunities for therapeutic intervention.
Dr. Joffe's research addresses three areas. First, he studies leadership in biomedical science, including governance within learning healthcare systems and the role of the principal investigator in multicenter trials. Second, he studies the ethical questions raised by genomic sequencing in medicine and science. Finally, he studies the ethics of human subjects research, including informed consent and clinical research design.
Dr. Bhatnagar's research aims to further the understanding of the neural basis of individual differences in response to stressful experiences. This includes identifying neural substrates that produce resiliency or vulnerability to the effects of stress and determining treatments to mitigate vulnerability and to promote resiliency through both preclinical and translational studies.
Dr. Hunger's focuses his research on molecular and genomic approaches to identify and clinically evaluate targeted cancer treatments for children with relapsed or high-risk acute lymphoblastic leukemia (ALL) such as Philadelphia chromosome-like (Ph-Like) ALL. The long-term goal of Dr. Hunger’s research is to develop better therapies, improve cure rates, and minimize treatment toxicities for children with ALL.
Dr. Broedur’s research interests focus on nanoparticle drug delivery and cancer predisposition. He is also interested in identifying novel cancer predisposition genes, and developing enhanced surveillance techniques to identify cancer early in predisposed individuals with the hope of improving outcome and reducing side effects.
Dr. Winston is a pediatrician, engineer, and public health researcher conducting research at the interface of child and adolescent health, injury, engineering, and behavioral science. Her work focuses on traffic injury, and her research to action to impact approach has led to evidence-based digital health to improve health outcomes.
Dr. Emanuel investigates diseases caused by abnormalities of human chromosome 22. These include the most common microdeletion syndrome, 22q11.2 deletion syndrome, and the most common recurrent constitutional translocation in humans, the t(11;22). Her efforts include discerning the mechanisms involved in generating the deletion and translocation as well as looking for modifiers of the phenotype in individuals with the deletion syndrome.
Dr. MacFarland's research focuses on syndromes that predispose to cancer development in children and adolescents. She has initiated several individual and collaborative research projects, working in pediatric polyposis syndromes and Li-Fraumeni syndrome. She is uncovering novel genomic drivers of disease and identifying biomarkers of cancer onset and progression.