Mentor Areas
Our research is focused on understanding biochemical abnormalities that occur in mitochondrial disease, with a core goal of improving our ability to rapidly diagnose mitochondrial disease. Our main research focus is inherited deficiency of mitochondrial complex V (ATP Synthase) deficiency. We use human clinical data and human cells to improve our understanding of the biochemical pathophysiology of this disease. I also am intensely interested in applying large data techniques (data warehousing, machine learning) to clinical data collected from patients with mitochondrial disease to identify highly specific and sensitive diagnostic approaches and unmask previously under-appreciated subgroups.
Description:
The focus of our research group is projects that will improve the ability to rapidly diagnose primary mitochondrial disease. Projects to do this include wet lab biochemical approaches, clinical and natural history studies and bioinformatic analyses. Sample projects in each of these areas are listed, but more opportunities exist.
CHARACTERIZING BIOCHEMICAL EFFECTS OF MITOCHONDRIAL COMPLEX V DEFICIENCY IN HUMAN CELL MODELS. In this project, we are evaluating the biochemical features of human skin cells that have genetic and/or pharmacologic deficiencies in mitochondrial complex V -- the mitochondrial enzyme that actually generates ATP. These approaches include genetic testing of ATP synthase, quantifying the amount of ATP produces, the mitochondrial membrane potential and cell metabolomic and stable isotope studies. Potential student responsibilities include DNA extraction, PCR testing, plate reader assays, FACS analysis and preparing cells for metabolomic evaluations.
DEVELOPING NOVEL DIAGNOSTIC TOOLS FOR TRICARBOXYLIC ACID CYCLE (TCA) DEFECTS. In this project, we are using stable isotopes (non-radioactive) to measure flux through the TCA Cycle as a novel diagnostic tool for genetic defects in the TCA cycle and pyruvate metabolism. Potentialy student responsibilities include cell culture, stimulation with different stable isotope-labelled nutrients, preparation of cells for mass spectometric analysis and evaluation of mass spec data.
STATISTICAL LEARNING ANALYSIS OF BIOCHEMICAL LABS IN PATIENTS WITH MITOCHONDRIAL DISEASE. In this project, we are analyzing clinical laboratory values (amino acids, organic acids, ketone levels, etc.) in patients with definite or suspected mitochondrial disease in order to ultimately use unsupervised clustering to discover patient subgroups and XGBoost and random forest plotting to develop novel diagnostic approaches. The student is responsible for syncing the data warehouse with the multiple input sources, debugging any errors in the data, and working with the team to develop statistical learning coding opportunities linking specific analytes.
There are multiple other opportunities to participate in mitochondrial-focused wet lab, clinical research and/or bioinformatics opportunities. Interested students should connect to discuss possibilities.
Preferred Qualifications
Projects can be tailored to student background.
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
Yes indicates that faculty are open to volunteers.Paid
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.