Theodore G. Drivas, MD

Assistant Professor of Medicine (Translational Medicine and Human Genetics)

• Assistant Director of Scientific Outreach, Penn Medicine BioBank
• Director, Penn Bardet-Biedl Syndrome Center of Excellence

Department: Medicine
Division: Translational Medicine and Human Genetics

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:
My research program seeks to understand rare genetic variation across the full spectrum of human biology — from its molecular effects within cells, to its clinical consequences in patients, to its impact across populations. By integrating these scales I aim to uncover new mechanisms of disease, improve diagnosis and treatment, and dissolve the artificial boundary within genetics between the rare and the common. The primary cilium serves as a model for this vision, demonstrating how a single biological system can be interrogated from molecular mechanism to patient phenotypes to population genetics, transforming rare disease discoveries into broadly relevant insights into human biology.

My laboratory combines deep clinical phenotyping and rare-disease genomics with biobank-scale genetic analysis, computational method development, and experimental cell biology. We develop approaches to discover disease genes and interrogate rare variation across large human cohorts, then test emerging mechanisms using CRISPR genome engineering, quantitative imaging, and cellular models of signaling, trafficking, and organelle biology. This integration allows us to move rapidly between human genetic discovery and mechanistic experimentation.

From bench to biobank to bedside, my work seeks to answer one question across biological scales: how do rare genetic variants shape human health?



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 of 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)

Selected Publications

• Lemire G, Marshall AE, Patel TS, Trejo Martinez J, Lerman-Sagie T, Mears W, Wang X, Lev D, Eaton AJ, Bontempo K, Angle B, Shannon P, Blaser S, Care4Rare Canada Consortium, Boycott KM, Richer J, Chong K, Drivas TG*, and Chitayat D* *Co-Senior Authors : Bi-allelic variants in CDK20 cause a severe ciliopathy with midline brain and facial anomalies Am J Hum Genet 113(8) : 1754-1761, August 2026
• Gold JI, Elkaim Y, Gold NB, Asher S, Raper A, Condit C, Bogus Z, Elysee I, Hennessy L, Kennedy E, Briere LC, Sweetser DA, Kripke C, Verma A, Salmasian H, Landry L, Nathanson KL, Kallish S, and Drivas TG. : Racial and Socioeconomic Disparities in Genetic Evaluation and Testing in the Adult Patient Population Am J Hum Genet 113(1) : 29-40, January 2026
• Gold J, Kripke CM, Regeneron Genetics Center, Penn Medicine BioBank, Drivas TG. : Exclusion-Based Exome Sequencing in Critically Ill Adults Ages 18-40 Years Has a 24% Diagnostic Rate and Reveals Race-Based Disparities in Access to Genetic Testing Am J Hum Genet. 112(8) : 1792-1804, August 2025
• Safonov A, Nomakuchi TT, Chaeo E, Horton C, Dolinsky JS, Yussuf A, Richardson M, Speare V, Li S, K, Bogus ZC, Bonanni M, Raper A, Odia T, Wubbenhorst BS, Faulders E, Schuth EM, Loranger K, Zhang J, Scalise CB, ElNaggar A, Sha Y, Felker SA, Weitzel J, Kallish S, Ritchie MD, Penn Medicine Biobank, Nathanson KL, and Drivas TG : A genotype-first approach identifies high incidence of NF1 pathogenic variants with distinct disease associations Nature Commun. 16(1)(3121) April 2025
• Liu H, Abedini A, Ha E, Ma Z, Sheng X, Dumoulin B, Qiu C, Aranyi T, Li S, Dittrich N, Chen HC, Tao R, Tarng DC, Hsieh FJ, Chen SA, Yang SF, Lee MY, Kwok PY, Wu JY, Chen CH, Khan A, Limdi NA, Wei WQ, Walunas TL, Karlson EW, Kenny EE, Luo Y, Kottyan L, Connolly JJ, Jarvik GP, Weng C, Shang N, Cole JB, Mercader JM, Mandla R, Majarian TD, Florez JC, Haas ME, Lotta LA, Drivas TG, Vy HMT, Nadkarni GN, Wiley LK, Wilson MP, Gignoux CR, Rasheed H, Thomas LF, Åsvold BO, Brumpton BM, Hallan SI, Hveem K, Zheng J, Hellwege JN, Zawistowski M, Zöllner S, Franceschini N, Hu H, Zhou J, Kiryluk K, Ritchie MD, Palmer M, Edwards TL, Voight BF, Hung AM, Susztak K : Kidney multiome-based genetic scorecard reveals convergent coding and regulatory variants Science 387(6734) February 2025
• Verma, A, Damrauer SM, Naseer N, Weaver J, Kripke CM, Guare L, Sirugo G, Kember RL, Drivas TG, Dudek SM, Bradford Y, Lucas A, Judy R, Verma SS, Meagher E, Nathanson KL, Feldman M, Ritchie MD, Rader DJ, and The Penn Medicine BioBank. : The Penn Medicine BioBank: Towards a Genomics-Enabled Learning Healthcare System to Accelerate Precision Medicine in a Diverse Population Journal of Personalized Medicine. 12(12) : 1974, November 2022
• Butler-Laporte G, Povysil G, Kosmicki JA, Cirulli ET, Drivas TG, et al. (with 160 additional authors) : Exome-wide association study to identify rare variants influencing COVID-19 outcomes: Results from the Host Genetics Initiative. PLoS Genet. 18(11) November 2022
• Drivas TG, Lucas A, Zhang X, Ritchie MD. : Mendelian pathway analysis of laboratory traits reveals distinct roles for ciliary subcompartments in common disease pathogenesis Am J Hum Genet 108(3) : 482-501, Mar 2021
• Drivas TG, Lucas A, Ritchie MD. : eQTpLot: a user-friendly R package for the visualization of colocalization between eQTL and GWAS signals BioData Min 14(1) : 32, Jul 2021
• Drivas TG, Holzbaur EL, Bennett J. : Disruption of CEP290 microtubule/membrane-binding domains causes retinal degeneration J Clin Invest 123(10) : 4525-39, Oct 2013