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Mary Yousry Armanios, M.D.

Photo of Dr. Mary Yousry Armanios, M.D.

Clinical Director, Telomere Center at Johns Hopkins

Professor of Oncology

Female

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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Locations

Johns Hopkins Sidney Kimmel Comprehensive Cancer Center
Appointment Phone: 410-955-8964

401 N. Broadway
Weinberg Building
Baltimore, MD 21231 map

Background

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.
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Titles

  • 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

Departments / Divisions

Education

Degrees

  • MD, The Ohio State University Wexner Medical Center - GME (1996)

Residencies

  • The Ohio State University Wexner Medical Center - GME / Internal Medicine/Pediatrics (2001)

Fellowships

  • Johns Hopkins University School of Medicine / Oncology (2003)
  • Johns Hopkins University School of Medicine / Oncology (2005)

Board Certifications

  • American Board of Internal Medicine / Internal Medicine (2001)
  • American Board of Internal Medicine / Medical Oncology (2003)

Research & Publications

Research Summary

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 Keywords

Dyskeratosis 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 Publications

View 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.

AlderJK, ChenJL, LancasterL, DanoffS, SuSC, CoganJD,Vulto I, XieM, QiX, Tuder, RM, Phillips JA III, LansdorpPM, LoydJE, ArmaniosMY. 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, DeZernAE, StanleySE, Takemoto CM, DanilovaL, ApplegateCD, BoltonS, Mohr DW, BrodskyRA, CasellaJF, GreiderCW, 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.

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