I am a pulmonary and critical care clinician-scientist with a long-standing focus on regenerative medicine and stem cell biology. My goal is to advance understanding of and treatment for genetic causes of chronic obstructive pulmonary disease (COPD) and the most common genetic cause of COPD, alpha-1 antitrypsin deficiency (AATD). To accomplish this goal, I have established an integrated clinical and research program here at BU and BMC that includes the following components: 1) The Alpha-1 Center which I direct and co-founded with Dr. Darrell Kotton has become a nationally recognized center of excellence for the care of AATD patients and their families; 2) Patient stem cell repositories: I have overseen the creation of and direct two large stem cell repositories, housed at the CReM. First, we house the world’s largest AATD patient-specific induced pluripotent stem cell (iPSC) repository, comprised of iPSCs and reprogrammable blood samples from over 100 AATD patients linked to phenotypic data including imaging, pulmonary function, and liver biopsy results. Second, in collaboration with the Framingham Heart Study (FHS) and Vasan Ramachandran, the CReM now houses the FHS iPSC Repository that includes iPSCs and reprogrammable blood samples from >6500 highly phenotyped participants in the FHS; 3) Clinical-epidemological AATD Research: Under my direction as site PI, BU is one three sites in the country funded by the Alpha-1 Foundation to recruit 100 AATD subjects to undergo liver biopsy, detailed phenotyping, and 5 years of follow-up to define the prevalence of, risk factors for, and non-invasive biomarkers associated with AATD-associated liver disease; 4) Translational bench research: my lab in the CReM is focused on the application of patient-derived iPSCs to study AATD and COPD.
The 4 core areas of my research are: I) to confirm the clinical significance of the iPSC platform to model in vivo patient biology and demonstrate its potential for testing potential therapeutic agents; II) to better understand the genetic factors and mechanistic drivers that predispose subsets of AATD patients to develop clinical disease; III) to elucidate the mechanistic contribution of putative COPD susceptibility genes to lung disease pathogenesis; and IV) to develop gene or cell-based therapies for AATD.
Research interests include:
-Alpha-1 antitrypsin deficiency
-Pluripotent stem cells
Clinical interests include:
-Alpha-1 antitrypsin deficiency
- Investigator, Framingham Heart Study
- Member, Pulmonary Center, Boston University
- Member, Center for Regenerative Medicine, Boston University
- Member, Evans Center for Interdisciplinary Biomedical Research, Boston University
- Graduate Faculty (Primary Mentor of Grad Students), Boston University School of Medicine, Graduate Medical Sciences
- University of Texas Southwestern Medical School, MD
- Williams College, BA
- Published on 11/19/2020
Hekman RM, Hume AJ, Goel RK, Abo KM, Huang J, Blum BC, Werder RB, Suder EL, Paul I, Phanse S, Youssef A, Alysandratos KD, Padhorny D, Ojha S, Mora-Martin A, Kretov D, Ash PEA, Verma M, Zhao J, Patten JJ, Villacorta-Martin C, Bolzan D, Perea-Resa C, Bullitt E, Hinds A, Tilston-Lunel A, Varelas X, Farhangmehr S, Braunschweig U, Kwan JH, McComb M, Basu A, Saeed M, Perissi V, Burks EJ, Layne MD, Connor JH, Davey R, Cheng JX, Wolozin BL, Blencowe BJ, Wuchty S, Lyons SM, Kozakov D, Cifuentes D, Blower M, Kotton DN, Wilson AA, Mühlberger E, Emili A. Actionable Cytopathogenic Host Responses of Human Alveolar Type 2 Cells to SARS-CoV-2. Mol Cell. 2020 Dec 17; 80(6):1104-1122.e9. PMID: 33259812.
- Published on 9/18/2020
Huang J, Hume AJ, Abo KM, Werder RB, Villacorta-Martin C, Alysandratos KD, Beermann ML, Simone-Roach C, Lindstrom-Vautrin J, Olejnik J, Suder EL, Bullitt E, Hinds A, Sharma A, Bosmann M, Wang R, Hawkins F, Burks EJ, Saeed M, Wilson AA, Mühlberger E, Kotton DN. SARS-CoV-2 Infection of Pluripotent Stem Cell-Derived Human Lung Alveolar Type 2 Cells Elicits a Rapid Epithelial-Intrinsic Inflammatory Response. Cell Stem Cell. 2020 12 03; 27(6):962-973.e7. PMID: 32979316.
- Published on 7/30/2020
Giadone RM, Liberti DC, Matte TM, Rosarda JD, Torres-Arancivia C, Ghosh S, Diedrich JK, Pankow S, Skvir N, Jean JC, Yates JR, Wilson AA, Connors LH, Kotton DN, Wiseman RL, Murphy GJ. Expression of Amyloidogenic Transthyretin Drives Hepatic Proteostasis Remodeling in an Induced Pluripotent Stem Cell Model of Systemic Amyloid Disease. Stem Cell Reports. 2020 08 11; 15(2):515-528. PMID: 32735824.
- Published on 7/2/2020
Kaserman JE, Hurley K, Dodge M, Villacorta-Martin C, Vedaie M, Jean JC, Liberti DC, James MF, Higgins MI, Lee NJ, Washko GR, San Jose Estepar R, Teckman J, Kotton DN, Wilson AA. A Highly Phenotyped Open Access Repository of Alpha-1 Antitrypsin Deficiency Pluripotent Stem Cells. Stem Cell Reports. 2020 07 14; 15(1):242-255. PMID: 32619491.
- Published on 6/30/2020
Huang J, Hume AJ, Abo KM, Werder RB, Villacorta-Martin C, Alysandratos KD, Beermann ML, Simone-Roach C, Olejnik J, Suder EL, Bullitt E, Hinds A, Sharma A, Bosmann M, Wang R, Hawkins F, Burks EJ, Saeed M, Wilson AA, Mühlberger E, Kotton DN. SARS-CoV-2 Infection of Pluripotent Stem Cell-derived Human Lung Alveolar Type 2 Cells Elicits a Rapid Epithelial-Intrinsic Inflammatory Response. bioRxiv. 2020 Jun 30. PMID: 32637964.
- Published on 6/4/2020
Abo KM, Ma L, Matte T, Huang J, Alysandratos KD, Werder RB, Mithal A, Beermann ML, Lindstrom-Vautrin J, Mostoslavsky G, Ikonomou L, Kotton DN, Hawkins F, Wilson A, Villacorta-Martin C. Human iPSC-derived alveolar and airway epithelial cells can be cultured at air-liquid interface and express SARS-CoV-2 host factors. bioRxiv. 2020 Jun 04. PMID: 32577635.
- Published on 1/30/2020
Hurley K, Ding J, Villacorta-Martin C, Herriges MJ, Jacob A, Vedaie M, Alysandratos KD, Sun YL, Lin C, Werder RB, Huang J, Wilson AA, Mithal A, Mostoslavsky G, Oglesby I, Caballero IS, Guttentag SH, Ahangari F, Kaminski N, Rodriguez-Fraticelli A, Camargo F, Bar-Joseph Z, Kotton DN. Reconstructed Single-Cell Fate Trajectories Define Lineage Plasticity Windows during Differentiation of Human PSC-Derived Distal Lung Progenitors. Cell Stem Cell. 2020 04 02; 26(4):593-608.e8. PMID: 32004478.
- Published on 2/22/2019
Reeves EP, Dunlea DM, McQuillan K, O'Dwyer CA, Carroll TP, Saldova R, Akepati PR, Wormald MR, McElvaney OJ, Shutchaidat V, Henry M, Meleady P, Keenan J, Liberti DC, Kotton DN, Rudd PM, Wilson AA, McElvaney NG. Circulating Truncated Alpha-1 Antitrypsin Glycoprotein in Patient Plasma Retains Anti-Inflammatory Capacity. J Immunol. 2019 04 15; 202(8):2240-2253. PMID: 30796179.
- Published on 10/15/2018
Reeves EP, O'Dwyer CA, Dunlea DM, Wormald MR, Hawkins P, Alfares M, Kotton DN, Rowe SM, Wilson AA, McElvaney NG. Ataluren, a New Therapeutic for Alpha-1 Antitrypsin-Deficient Individuals with Nonsense Mutations. Am J Respir Crit Care Med. 2018 10 15; 198(8):1099-1102. PMID: 30011228.
- Published on 9/15/2018
Kaserman JE, Wilson AA. Patient-Derived Induced Pluripotent Stem Cells for Alpha-1 Antitrypsin Deficiency Disease Modeling and Therapeutic Discovery. Chronic Obstr Pulm Dis. 2018 Sep 15; 5(4):258-266. PMID: 30723783.
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