Mary Armanios, MD

Professional Titles

• Director, Telomere Center at Johns Hopkins
• Associate Director of Cancer Research Career Enhancement, Sidney Kimmel Comprehensive Cancer Center

Primary Academic Title

Professor of Oncology

Background

Centers and Institutes

• McKusick-Nathans Institute of Genetic Medicine
• Sidney Kimmel Comprehensive Cancer Center

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

Additional Academic Titles

Professor of Genetic Medicine, Professor of Molecular Biology and Genetics, Professor of Pathology

Research Interests

Telomere and Telomerase-Associated Disorders

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.

Google Scholar

https://scholar.google.com/scholar?hl=en&q=Armanios+MY&btnG=&as_sdt=1%2C21&as_sdtp=

PubMed

https://pubmed.ncbi.nlm.nih.gov/?term=Armanios+M&sort=date

Selected Publications

• 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, 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

• 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

• 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