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Mary Armanios, M.D.
Mary Yousry Armanios, M.D.
Clinical Director, Telomere Center at Johns Hopkins
Professor of Oncology
Languages: English, Arabic
Expertise: Dyskeratosis Congenita and Related Disorders, Genetics of Interstitial Lung Disease, Medical Oncology, Telomere-associated Bone Marrow Failure, Telomere-mediated Disease ...read more
Research Interests: Telomere and Telomerase-Associated Disorders
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Johns Hopkins Sidney Kimmel Comprehensive Cancer Center
APPOINTMENT PHONE: 410-955-8964
401 N. Broadway Harry and Jeanette Weinberg Building Baltimore, MD 21231
My clinical and research interests focus on disorders caused by telomere dysfunction. Our goal is to define approaches to surveillance, diagnosis and treatment for patients with telomere-mediated disease. Human syndromes associated with telomere shortening were first identified in the context of dyskeratosis congenita, a premature aging syndrome that predisposes to cancer. Dyskeratosis congenita patients and patients with telomere-mediated syndromes have an increased risk for developing certain malignancies which include myelodysplastic syndromes, myeloid leukemia and squamous cell carcinomas of the upper aerodigestive tract.
The Telomere Clinic in the Sidney Kimmel Comprehensive Cancer Center at Johns Hopkins provides multi-disciplinary care to patients who are suspected to have or who carry the diagnosis of telomere-related disorders. These disorders include individuals with cancer, bone marrow failure/aplastic anemia, lung disease including idiopathic pulmonary fibrosis and liver cirrhosis, among others. Our clinic brings together geneticists, genetic counselors, and we work closely with expert physicians in adult and pediatric hematology, bone marrow transplant, pulmonary medicine, lung transplant medicine, hepatology, and otolaryngology. Together, our team has established expertise in the management of these disorders, and is at the forefront of leading the effort to individualize care for affected patients and their families. My group also has ongoing research efforts which include a long-term study to understand the genetics and spectrum of telomere disorders through a Registry which has been based at Johns Hopkins since 2005.
- Clinical Director, Telomere Center at Johns Hopkins
- Associate Director of Cancer Research Career Enhancement, Sidney Kimmel Comprehensive Cancer Center
- Professor of Oncology
- Professor of Molecular Biology and Genetics
- Professor of Pathology
- MD, The Ohio State University Wexner Medical Center (1996)
- The Ohio State University Wexner Medical Center / Internal Medicine/Pediatrics (2001)
- Johns Hopkins University School of Medicine / Oncology (2003)
- Johns Hopkins University School of Medicine / Oncology (2005)
- American Board of Internal Medicine / Internal Medicine (2001)
Research & Publications
My research group is interested in understanding the biology and genetic basis of disease. Specifically, we have been interested in the role of telomere abnormalities and DNA repair defects in disease susceptibility. Human syndromes associated with telomere shortening were first identified in the context of dyskeratosis congenita, a rare premature aging syndrome that predisposes to cancer. Dyskeratosis congenita patients prematurely die from aplastic anemia, the prototype of stem cell failure disorders. We discovered that mutations in the essential components of telomerase cause progressive and fatal scarring of the lungs in idiopathic pulmonary fibrosis. Mutations in telomerase components are the most common cause of idiopathic pulmonary fibrosis and its familial forms. The goal of research in our lab is to understand the genetics and pathophysiology of telomere-mediated disease including cancer with the goal of advancing the care of affected patients.
Clinical Trial KeywordsDyskeratosis Congenita, Idiopathic Pulmonary Fibrosis Genetics, Bone Marrow Failure, Constitutional Aplastic Anemia, Familial Myelodysplastic Syndrome, Hoyeraal Hreidarsson Syndrome, Telomere, Telomerase, Telomeres, Telomerase, Bone Marrow Failure, Genetics, Dyskeratosis Congenita
Selected PublicationsView all on Pubmed
Armanios MY, Chen JL, Cogan JD, Alder JK, Ingersoll RG, Markin C, Lawson WE, Xie M, Vulto I, Phillips JA, Lansdorp PM, Greider CW, Loyd JE. Telomerase Mutations in Families with Idiopathic Pulmonary Fibrosis, New Engl J Med. 2007:316,1317-26.
Alder JK, Chen JL, Lancaster L, Danoff S, Su SC, Cogan JD,Vulto I, Xie M, Qi X, Tuder, RM, Phillips JA III, Lansdorp PM, Loyd JE, Armanios MY. Short telomeres are a risk factor for idiopathic pulmonary fibrosis, Proc Nat Acad Sci. 2008:105(35),13051-6.
Stanley SE*, Gable DL*, Wagner CL, Carlile T, Hanumanthu VS, Khalil SK, DeZern AE, Applegate CD, Alder JK, Parry EM, Gilbert W, Armanios M.Loss-of-function mutations in NAF1 an RNA biogenesis factor cause familial pulmonary fibrosis-emphysema, Sci Translat Med, August 2016. *equal contribution
Alder JK, Hanumanthu VS, Strong MA, DeZern AE, Stanley SE, Takemoto CM, Danilova L, Applegate CD, Bolton S, Mohr DW, Brodsky RA, Casella JF, Greider CW, Jackson JB, Armanios M. Diagnostic Utility of telomere length measurement in a hospital based setting, Proc of the National Acad of Sciences, epub February 21 2018.
Wagner, CL, Hanumanthu VS, Talbot CT, Abraham RS, Gable DL, Hamm D, Kanakry CG, Siliciano JD, Desiderio S, Alder JK, Luznik L, Armanios M. Short telomeres syndromes cause a primary T cell immunodeficiency, Journal of Clinical Investigation, epub Sept 4, 2018.