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. 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.
  2. Sazonovs, A, Stevens, CR, Venkataraman, GR, Yuan, K, Avila, B, Abreu, MT, Ahmad, T, Allez, M, Ananthakrishnan, AN, Atzmon, G et al.. Large-scale sequencing identifies multiple genes and rare variants associated with Crohn's disease susceptibility. Nat Genet 2022; 54 (9): 1275-1283. PubMed PMID:36038634 .
  3. Goris, A, Vandebergh, M, McCauley, JL, Saarela, J, Cotsapas, C. Genetics of multiple sclerosis: lessons from polygenicity. Lancet Neurol 2022; 21 (9): 830-842. PubMed PMID:35963264 .
  4. Liu, S, Bush, WS, Miskimen, K, Gonzalez-Vicente, A, Bailey, JNC, Konidari, I, McCauley, JL, Sedor, JR, O'Toole, JF, Crawford, DC et al.. T-cell receptor diversity in minimal change disease in the NEPTUNE study. Pediatr Nephrol 2022; : . PubMed PMID:35943576 .
  5. Nova, A, Baldrighi, GN, Fazia, T, Graziano, F, Saddi, V, Piras, M, Beecham, A, McCauley, JL, Bernardinelli, L. Heritability Estimation of Multiple Sclerosis Related Plasma Protein Levels in Sardinian Families with Immunochip Genotyping Data. Life (Basel) 2022; 12 (7): . PubMed PMID:35888189 PubMed Central PMC9317284.
  6. Ng, Y, Qi, W, King, NKK, Christianson, T, Krishnamoorthy, V, Shah, S, Divani, A, Bettin, M, Coleman, ER, Flaherty, ML et al.. Initial antihypertensive agent effects on acute blood pressure after intracerebral haemorrhage. Stroke Vasc Neurol 2022; : . PubMed PMID:35443984 .
  7. Woo, D, Comeau, ME, Venema, SU, Anderson, CD, Flaherty, M, Testai, F, Kittner, S, Frankel, M, James, ML, Sung, G et al.. Risk Factors Associated With Mortality and Neurologic Disability After Intracerebral Hemorrhage in a Racially and Ethnically Diverse Cohort. JAMA Netw Open 2022; 5 (3): e221103. PubMed PMID:35289861 PubMed Central PMC8924717.
  8. Shams, H, Shao, X, Santaniello, A, Kirkish, G, Harroud, A, Ma, Q, Isobe, N, University of California San Francisco MS-EPIC Team, Schaefer, C, McCauley, JL et al.. Polygenic risk score association with multiple sclerosis susceptibility and phenotype in Europeans. Brain 2022; : . PubMed PMID:35253861 .
  9. Nova, A, Fazia, T, Beecham, A, Saddi, V, Piras, M, McCauley, JL, Berzuini, C, Bernardinelli, L. Plasma Protein Levels Analysis in Multiple Sclerosis Sardinian Families Identified C9 and CYP24A1 as Candidate Biomarkers. Life (Basel) 2022; 12 (2): . PubMed PMID:35207439 PubMed Central PMC8879906.
  10. Fazia, T, Marzanati, D, Carotenuto, AL, Beecham, A, Hadjixenofontos, A, McCauley, JL, Saddi, V, Piras, M, Bernardinelli, L, Gentilini, D et al.. Homozygosity Haplotype and Whole-Exome Sequencing Analysis to Identify Potentially Functional Rare Variants Involved in Multiple Sclerosis among Sardinian Families. Curr Issues Mol Biol 2021; 43 (3): 1778-1793. PubMed PMID:34889895 PubMed Central PMC8929092.
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Curriculum vitae