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)

Selected Publications

Zhang X, Lucas AM, Veturi Y, Drivas TG, Bone WP, Verma A, Chung WK, Crosslin D, Denny JC, Hebbring S, Jarvik GP, Kullo I, Larson EB, Rasmussen-Torvik LJ, Schaid DJ, Smoller JW, Stanaway IB, Wei WQ, Weng C, Ritchie MD.: Large-scale genomic analyses reveal insights into pleiotropy across circulatory system diseases and nervous system disorders Nat Commun 13 (1): 3428,2022.

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): 1974,2022.

Huffman JE, Butler-Laporte G, Khan A, Pairo-Castineira E, Drivas TG, Peloso GM, Nakanishi T; COVID-19 Host Genetics Initiative, Ganna A, Verma A, Baillie JK, Kiryluk K, Richards JB, Zeberg H.: Multi-ancestry fine mapping implicates OAS1 splicing in risk of severe COVID-19 Nat Genet 54 (2): 125-127,2022.

Xiao B, Velez Edwards DR, Lucas A, Drivas TG, Gray K, Keating B, Weng C, Jarvik GP, Hakonarson H, Kottyan L, Elhadad N, Regeneron Genetics Center, Wei W, Luo Y, Kim D, Ritchie MD, Verma SS: Inference of Causal Relationships Between Genetic Risk Factors for Cardiometabolic Phenotypes and Female-Specific Health Conditions J Am Heart Assoc : 2023.

Butler-Laporte G, Povysil G, Kosmicki J, Cirulli ET, Drivas TG, et al: Exome-wide association study to identify rare variants influencing COVID-19 outcomes: Results from the Host Genetics Initiative. medRxiv : 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): 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): 482-501,2021.

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): 32,2021.

Drivas TG, Wojno AP, Tucker BA, Stone EM, Bennett J.: Basal exon skipping and genetic pleiotropy: A predictive model of disease pathogenesis Sci Transl Med 7 (291): 291ra97,2015.

Drivas TG, Holzbaur EL, Bennett J.: Disruption of CEP290 microtubule/membrane-binding domains causes retinal degeneration J Clin Invest 123 (10): 4525-39,2013.

View all publications

Academic Contact Information

Smilow Center for Translational Research
3400 Civic Center Blvd
Office: 12-112
Lab: 12-176
Philadelphia, PA 19104
Phone: 215-573-4576
Patient appointments: 800-789-7366