Symposium Speaker: Jacob L. McCauley, PhD

Dr. McCauley is Associate Professor of Pathology and Dr. John T. Macdonald Foundation Department of Human Genetics at the University of Miami.  Dr. McCauley is also Associate Director at the Center for Genome Technology, John P. Hussman Institute for Human Genomics and Director of the Biorepository Core Facility in the Center for Genome Technology at the John P Hussman Institute for Human Genomics.  Dr. McCauley is formally trained in human genetics, and his primary interest is to improve the understanding of human disease through disease gene discovery, genomics, and in-depth examination of environmental factors that influence disease outcome. His research focuses on the use of molecular techniques, bioinformatics, and statistical methods to identify genetic variation and to characterize its role in disease susceptibility and outcomes within a variety of human diseases. He has significant experience overseeing biological sample collection, tracking, quality control, genotyping, sequencing and analysis involved in large-scale human genetics projects. Dr. McCauley is a member of several multidisciplinary collaborations with colleagues both nationally and internationally. He has been involved in studying a variety of complex human diseases including autism, Alzheimer disease, stroke, multiple sclerosis, and inflammatory bowel disease.

Recent Publications

  1. Chen, S, Francioli, LC, Goodrich, JK, Collins, RL, Kanai, M, Wang, Q, Alföldi, J, Watts, NA, Vittal, C, Gauthier, LD et al.. A genomic mutational constraint map using variation in 76,156 human genomes. Nature 2023; : . PubMed PMID:38057664 .
  2. Parodi, L, Comeau, ME, Georgakis, MK, Mayerhofer, E, Chung, J, Falcone, GJ, Malik, R, Demel, SL, Worrall, BB, Koch, S et al.. Deep Resequencing of the 1q22 Locus in Non-Lobar Intracerebral Hemorrhage. Ann Neurol 2023; : . PubMed PMID:37787451 .
  3. International Multiple Sclerosis Genetics Consortium, MultipleMS Consortium. Locus for severity implicates CNS resilience in progression of multiple sclerosis. Nature 2023; 619 (7969): 323-331. PubMed PMID:37380766 PubMed Central PMC10602210.
  4. Jones, PD, Schooley, RC, Hon, S, Castañeda, SM, McCauley, JL, Lee, DL. Patients' views on HCC biospecimen research: Understanding the role of race and culture through interviews. Hepatol Commun 2023; 7 (6): . PubMed PMID:37255344 PubMed Central PMC10234466.
  5. Parodi, L, Comeau, ME, Georgakis, MK, Mayerhofer, E, Chung, J, Falcone, GJ, Malik, R, Demel, SL, Worrall, BB, Koch, S et al.. Deep resequencing of the 1q22 locus in non-lobar intracerebral hemorrhage. medRxiv 2023; : . PubMed PMID:37162822 PubMed Central PMC10168419.
  6. Liu, Z, Liu, R, Gao, H, Jung, S, Gao, X, Sun, R, Liu, X, Kim, Y, Lee, HS, Kawai, Y et al.. Genetic architecture of the inflammatory bowel diseases across East Asian and European ancestries. Nat Genet 2023; 55 (5): 796-806. PubMed PMID:37156999 PubMed Central PMC10290755.
  7. Beecham, AH, Amezcua, L, Chinea, A, Manrique, CP, Gomez, L, Martinez, A, Beecham, GW, Patsopoulos, NA, Chitnis, T, Weiner, HL et al.. Ancestral risk modification for multiple sclerosis susceptibility detected across the Major Histocompatibility Complex in a multi-ethnic population. PLoS One 2022; 17 (12): e0279132. PubMed PMID:36548255 PubMed Central PMC9778564.
  8. Jokubaitis, VG, Campagna, MP, Ibrahim, O, Stankovich, J, Kleinova, P, Matesanz, F, Hui, D, Eichau, S, Slee, M, Lechner-Scott, J et al.. Not all roads lead to the immune system: the genetic basis of multiple sclerosis severity. Brain 2023; 146 (6): 2316-2331. PubMed PMID:36448302 .
  9. Nagar, SD, Pemu, P, Qian, J, Boerwinkle, E, Cicek, M, Clark, CR, Cohn, E, Gebo, K, Loperena, R, Mayo, K et al.. Investigation of hypertension and type 2 diabetes as risk factors for dementia in the All of Us cohort. Sci Rep 2022; 12 (1): 19797. PubMed PMID:36396674 PubMed Central PMC9672061.
  10. Jacobsen, GE, Fernández, I, Quintero, MA, Santander, AM, Pignac-Kobinger, J, Damas, OM, Deshpande, AR, Kerman, DH, Ban, Y, Gao, Z et al.. Lamina Propria Phagocyte Profiling Reveals Targetable Signaling Pathways in Refractory Inflammatory Bowel Disease. Gastro Hep Adv 2022; 1 (3): 380-392. PubMed PMID:36061955 PubMed Central PMC9438737.
Search PubMed

The McCauley Lab Website

Curriculum vitae