Mary Armanios, M.D.

Mary Yousry Armanios, M.D.

Headshot of Mary Armanios
  • Director, Telomere Center at Johns Hopkins
  • Professor of Oncology


Dyskeratosis Congenita and Related Disorders, Genetics of Interstitial Lung Disease, Medical Oncology, Telomere-Associated Bone Marrow Failure, Telomere-Mediated Disease more

Research Interests

Telomere and Telomerase-Associated Disorders

Request an Appointment

Insurance Information

Main Phone

Outside of Maryland & Washington D.C.

Request Appointment

International Patients

Request Appointment


Johns Hopkins Sidney Kimmel Comprehensive Cancer Center

Appointment Phone: 410-955-8964
401 N. Broadway
Harry and Jeanette Weinberg Building
Baltimore, MD 21231
Johns Hopkins Sidney Kimmel Comprehensive Cancer Center - Google Maps


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 at 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. more


  • Director, Telomere Center at Johns Hopkins
  • Associate Director of Cancer Research Career Enhancement, Sidney Kimmel Comprehensive Cancer Center
  • Professor of Oncology
  • Professor of Genetic Medicine
  • Professor of Molecular Biology and Genetics
  • Professor of Pathology

Departments / Divisions

Centers & Institutes



  • MD; The Ohio State University Wexner Medical Center (1996)


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


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

Board Certifications

  • American Board of Internal Medicine (Oncology) (2021)

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.

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. 

Familial Clonal Hematopoiesis in a Long Telomere Syndrome. DeBoy EA, Tassia MG, Schratz KE, Yan SM, Cosner ZL, McNally EJ, Gable DL, Xiang Z, Lombard DB, Antonarakis ES, Gocke CD, McCoy RC, Armanios M. N Engl J Med. 2023 May 4. doi: 10.1056/NEJMoa2300503. Online ahead of print. PMID: 37140166

T cell immune deficiency rather than chromosome instability predisposes patients with short telomere syndromes to squamous cancers. Schratz KE, Flasch DA, Atik CC, Cosner ZL, Blackford AL, Yang W, Gable DL, Vellanki PJ, Xiang Z, Gaysinskaya V, Vonderheide RH, Rooper LM, Zhang J, Armanios M. Cancer Cell. 2023 Apr 10;41(4):807-817.e6. doi: 10.1016/j.ccell.2023.03.005. Epub 2023 Apr 2. PMID: 37037617 Free article

Is this you? Edit Profile
back to top button