Description of Clinical Expertise

I am board certified in both Internal Medicine and Clinical Genetics, and see patients at the Hospital of the University of Pennsylvania. As a Clinical Geneticist, my goal is to provide diagnostic workup and medical management for any patient with a genetic or inherited condition, agnostic of organ system or disease pathogenesis. I see primarily adult patients with any suspected genetic disorder, and have a special interest and expertise in the management of patients with ciliopathy conditions (disease affecting the primary cilium).

My clinical interests also extend to the examination of our expanding use of genetic data in clinical medicine. We know that our current system amplifies and propagates race- and socioeconomic-status-based inequalities, and my lab's findings highlight major failings in our ability to identify patients who would benefit from genetic testing. My team and I work to identify and address the hurdles that must be overcome to ensure the equitable roll out of Precision and Genetic Medicine initiatives, and are working to design and implement new approaches that will bring precision medicine to fruition in a fair, equitable, and economic way.

Description of Research Expertise

Research Interests:
The overarching goal of our research is to understand the intersection of common and rare disease genetics to uncover the genetic architecture
and molecular mechanisms of human disease. We take a conceptually innovative approach to our research, bridging genomics and classic genetics, integrating informatic, molecular, translational, and clinical approaches, to investigate our hypotheses and perform our work. The lab has a particular focus on disorders affecting the primary cilium, but our science is guided by genetic discovery and we are excited to tackle interesting questions agnostic of organ system or disease pathogenesis.


Research Details and Rotation Projects:
We have a number of ongoing projects in the lab. Much of our work focuses on understanding the role of the primary cilium in both common and rare disease pathogenesis. We are pursuing this question using a combination of informatic approaches (to identify variants in ciliary genes that increase risk for disease) and molecular techniques (to identify ciliary genes required for disease-associated signaling pathways and to understand the effects o chronic disease states on cilium structure and function). Outside of the cilium, we are engaged in a number exciting and collaborative research projects to broadly gain a better understanding of genetic variation and disease on the population level, and to understand and improve the use of genetic information in the clinic to fight disparities and promote the equitable and fair use of these advanced technologies for all patients.

Learn more about our ongoing research, available positions, and meet our team by visiting www.drivaslab.org !


Keywords:
Individuals with experience in the following areas will find their strengths well-suited to our lab:
Molecular Biology: Engineered Cell Lines; Signaling Assays; CRISPR/Cas9; Immunoblotting; Molecular Cloning; Live Cell Imaging; Cilium Biology
Computational Genomics: GWAS/PheWAS; Statistical Genetics; Electronic Health Record (EHR) Science; NGS Sequencing; eQTL Analysis


Lab Personnel:
Trust Odia, PhD (Bioinformatician)
Tejan Patel, BA (Research Specialist)
Jonathan Trejo, BS (Research Specialist)