Mentor Areas
Kushol Gupta is a Research Assistant Professor in the Department of Biochemistry & Biophysics at the Perelman School of Medicine of The University of Pennsylvania, a member of the BMB graduate group, and directs the Johnson Foundation Structural Biology and Biophysics Core, a departmental resource that serves Penn and the greater region.
He is a structural biologist with expertise in both X-ray crystallography and solution biophysical methods, including small-angle X-ray and neutron scattering, light scattering, and analytical ultracentrifugation.
Description:
Inborn errors of metabolism (IEMs) are a class of rare diseases comprised of approximately ~500 genetic disorders. Each condition is caused by a monogenic mutation that disrupts the body's normal metabolic processes. This disruption can manifest in one of two ways: either a loss of function or an increased activity. In turn, this disruption leads to harmful changes in an individual's physiology (phenotype). There are few effective treatment options available for most IEMs as only ~5% of FDA-approved therapies address rare diseases. While individual IEMs are uncommon (often affecting less than 1 in ~100,000 births), collectively they impact a significant number of people: estimates suggest an incidence of 1 in ~2,500 births worldwide. Our group's overarching goal is to understand how inherited mutations affect the structure and activity of these metabolic enzymes at the atomic level. Specifically, we are focused on elucidating the mechanisms by which these enzymes are regulated, such that novel avenues for therapeutic interventions can be identified to rescue metabolic dysfunction and disease phenotypes. We study the structure and function of enzymes that underlie inborn errors of metabolism, enabling the future development of novel therapeutics to treat these conditions. These enzymes include phenylalanine hydroxylase, cystathionine β-synthase, and porphobilinogen synthase. Our work employs cutting-edge structural and biophysical methods including cryo-electron microscopy, X-ray crystallography, analytical ultracentrifugation, small-angle scattering, and hydrogen-deuterium exchange mass spectrometry to gain atomic insight into the complex solution equilibrium of enzymatic assemblies and how clinical patient mutations in these enzymes affect function and lead to disease phenotypes.
Preferred Qualifications
Prior Laboratory experience is not prerequisite, although welcome. Students should be majoring in a related area (eg Biology, Chemistry, Biochemistry, Biophysics) with concurrent relevant coursework. Attention to detail and time management skills are a must.
Project Website
Learn more about the researcher and/or the project here. https://www.med.upenn.edu/gupta-lab/
Details:
Preferred Student Year
First-year, Second-Year, Junior, Senior
Academic Term
Fall, Spring, Summer
I prefer to have students start during the above term(s).Volunteer
Yes
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Yes
Yes indicates that faculty are open to paying students they engage in their research, regardless of their work-study eligibility.Work Study
Yes
Yes indicates that faculty are open to hiring work-study-eligible students.