I am senior investigator specializing in rare lung disease translational research with a focus on alpha-1-antitrypsin deficiency, gene therapy, pulmonary fibrosis and alveolar macrophage function. I have mentored a number faculty in bench to bedside research at the NIH Clinical Center and the University of Florida. I am a former K24 grantee, a mentor on 2 T32 programs and the UF MD/PhD program. My role on applicant’s grant is to provide molecular biology support, access to lung tissue and guidance on the transition to patient-oriented research.
Positions and Honors
1986-1989 Parker B. Francis Fellow, Pulmonary Branch, NHLBI, Bethesda, MD
1989-1990 Senior Staff Fellow, Pulmonary Branch, NHLBI, Bethesda, MD
1988-1998 NHLBI Alpha-1-Antitrypsin Deficiency Registry Steering Committee
1988-1998 Director, National Alpha-1-Antitrypsin Phenotyping Laboratory, Pulmonary-Critical Care Medicine Branch, NHLBI, Bethesda, MD
1990-1994 NICHD-IRB Committee Member, Bethesda, MD
1995-1998 Head, Unit on Genetic Disorders of Secreted Proteins, Human Genetics Branch, NICHD, Bethesda, MD
1995-1998 Senior Investigator and Head, Pulmonary Function Laboratory, Pulmonary-Critical Care Medicine Branch, NHLBI, Bethesda, MD
1996-2001 Board of Directors & Director of Research Alpha-1 Foundation, Coconut Grove, FL
1996-2002 Co-Chair, Alpha-1 Foundation Medical and Scientific Advisory Committee, Coconut Grove, FL
1998- Professor of Medicine, Molecular Genetics and Microbiology, Division of Pulmonary and Critical Care Medicine, University of Florida College of Med, Gainesville, FL
1998- Director, UF Alpha-1 Antitrypsin Genetics Laboratory, University of Florida College of Medicine, Gainesville, FL
2000-10 University of Florida GCRC Associate Director, Gainesville, FL
2006-09 FDA Pulmonary Drug Advisory Committee Chair
2010-17 Chief, Division of Pulmonary, Critical Care and Sleep Medicine, University of Florida College of Medicine, Gainesville, FL
2016- Vice Chair of Research, Department of Medicine, University of Florida College of Medicine, Gainesville, FL
1999 – Alpha-1 Foundation Endowed Professor
2007 UF Faculty Achievement Award
2008 UF Faculty Research Prize in Clinical Science
2010 FDA Service Award
Contribution to Science
- Pulmonary Fibrosis: My work has been primarily focused on genetic models of Pulmonary Fibrosis and Pulmonary Fibrosis treatment studies.
- a. Brantly ML, Rouhani FN, Markello TC, Helip-Wooley A, O’Brien K, Hess R, Huizing M, Gahl WA, Gochuico BR. Alveolar macrophage dysregulation in Hermansky-Pudlak syndrome type 1 Am J Respir Crit Care Med. 2009 Dec 1;180(11):1114-21. doi: 10.1164/rccm.200901-0023OC. Epub 2009 Sep 3. PMID: 19729668
- Brantly M, Avila NA, Shotelersuk V, Lucero C, Huizing M, Gahl WA. Pulmonary function and high-resolution CT findings in patients with an inherited form of pulmonary fibrosis, Hermansky-Pudlak syndrome, due to mutations in HPS-1.Chest. 2000 Jan;117(1):129-36. PMID: 10631210
- Gahl WA, Brantly M, Troendle J, Avila NA, Padua A, Montalvo C, Cardona H, Calis KA, Gochuico B.
Effect of pirfenidone on the pulmonary fibrosis of Hermansky-Pudlak syndrome.Mol Genet Metab. 2002 Jul;76(3):234-42. PMID: 12126938
- Gahl WA, Brantly M, Kaiser-Kupfer MI, Iwata F, Hazelwood S, Shotelersuk V, Duffy LF, Kuehl EM, Troendle J, Bernardini I. Genetic defects and clinical characteristics of patients with a form of oculocutaneous albinism (Hermansky-Pudlak syndrome). N Engl J Med. 1998 Apr 30;338(18):1258-64.
- Molecular Basis of Alpha-1-Antitrypsin Deficiency: My work has focused on structure, function and trafficking of mutant forms of alpha-1-antitrypsin.
- a. Brantly M, Courtney M, Crystal RG. Repair of the secretion defect in the Z form of alpha 1-antitrypsin by addition of a second mutation. 1988 Dec 23;242(4886):1700-2. PMID: 2904702
- Novoradovskaya N, Lee J, Yu ZX, Ferrans VJ, Brantly M. Inhibition of intracellular degradation increases secretion of a mutant form of alpha1-antitrypsin associated with profound deficiency. J Clin Invest. 1998 Jun 15;101(12):2693-701. PMID: 9637703
- Lee J, Novoradovskaya N, Rundquist B, Redwine J, Saltini C, Brantly M. Alpha 1-antitrypsin nonsense mutation associated with a retained truncated protein and reduced mRNA.Mol Genet Metab. 1998 Apr;63(4):270-80. PMID: 9635295
- Laubach VE, Ryan WJ, Brantly M. Characterization of a human alpha 1-antitrypsin null allele involving aberrant mRNA splicing. Hum Mol Genet. 1993 Jul;2(7):1001-5. PMID: 8364536
- Spencer LT, Humphries JE, Brantly ML Antibody response to aerosolized transgenic human alpha1-antitrypsin. N Engl J Med. 2005 May 12;352(19):2030-1. No abstract available.
- Alpha-1-Antitrypsin Gene Therapy: My work as been focused on human and animal models of gene therapy for alpha-1-antitrypsin deficiency.
- Brantly ML, Spencer LT, Humphries M, Conlon TJ, Spencer CT, Poirier A, Garlington W, Baker D, Song S, Berns KI, Muzyczka N, Snyder RO, Byrne BJ, Flotte TR. Phase I trial of intramuscular injection of a recombinant adeno-associated virus serotype 2 alphal-antitrypsin (AAT) vector in AAT-deficient adults.
Hum Gene Ther. 2006 Dec;17(12):1177-86.
- Flotte TR, Brantly ML, Spencer LT, Byrne BJ, Spencer CT, Baker DJ, Humphries M.
Phase I trial of intramuscular injection of a recombinant adeno-associated virus alpha 1-antitrypsin (rAAV2-CB-hAAT) gene vector to AAT-deficient adults.Hum Gene Ther. 2004 Jan;15(1):93-128. PMID: 14965381
- Brantly ML, Chulay JD, Wang L, Mueller C, Humphries M, Spencer LT, Rouhani F, Conlon TJ, Calcedo R, Betts MR, Spencer C, Byrne BJ, Wilson JM, Flotte TR.Sustained transgene expression despite T lymphocyte responses in a clinical trial of rAAV1-AAT gene therapy.Proc Natl Acad Sci U S A. 2009 Sep 22;106(38):16363-8. doi: 10.1073/pnas.0904514106. Epub 2009 Aug 12. Erratum in: Proc Natl Acad Sci U S A. 2009 Oct 13;106(41):17606. PMID: 19706466
- Mueller C, Chulay JD, Trapnell BC, Humphries M, Carey B, Sandhaus RA, McElvaney NG, Messina L, Tang Q, Rouhani FN, Campbell-Thompson M, Fu AD, Yachnis A, Knop DR, Ye GJ, Brantly M, Calcedo R, Somanathan S, Richman LP, Vonderheide RH, Hulme MA, Brusko TM, Wilson JM, Flotte TR. Human Treg responses allow sustained recombinant adeno-associated virus-mediated transgene expression. J Clin Invest. 2013 Dec;123(12):5310-8. doi: 10.1172/JCI70314. Epub 2013 Nov 15.
Full list of publications http://www.ncbi.nlm.nih.gov/sites/myncbi/mark.brantly.1/bibliography/44608324/public/?sort=date&direction=ascending
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