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Maria Kontaridis, PhD

Assistant Professor, Department of Medicine, Harvard Medical School

Assistant Professor, Medicine/Cardiology, Beth Israel Deaconess Medical Center

Contact Info

Maria Kontaridis
Beth Israel Deaconess Medical Center
3 Blackfan Circle

Boston, MA, 02115
Phone: 617-953-8846
Fax: 617-735-4255


Not Available.

DF/HCC Program Affiliation

Cancer Genetics
Translational Pharmacology and Early Therapeutic Trials

Research Abstract

My research program focuses on the fundamental mechanisms underlying RASopathy disorders, and, in particular, the mechanisms by which mutations in protein tyrosine phosphatases (PTPs) lead to abnormal development, aberrant molecular signaling, and disease onset. Our lab uses a myriad of developmental biology techniques in conjunction with in vivo mouse systems, including RASopathy disease models. While interested in all aspects of the disease spectrum of these disorders, which includes the oncogenic properties of these mutations, the major focus in the lab centers on elucidating the cardiomyogenic defects associated with Noonan and LEOPARD Syndromes, two autosomal dominant congenital disorders primarily caused by unique mutations in Shp2. These models provide valuable mechanistic and functional information in understanding the differential signaling pathways and developmental processes leading to each disease. Our hope is that understanding the regulatory mechanisms of these rare disorders will help elucidate functional targets for perhaps even more common congenital diseases. We are focusing on several major questions: A) What is the basis for the distinct cardiac phenotypes in NS and LS; B) Do NS and LS aberrantly regulate unique cardiovascular developmental pathways; and C) Can we reverse some/all syndrome phenotypes (and how)? To this end, we have generated an LS mouse model to provide initial answers to the major questions above, including our most important finding that hypertrophic cardiomyopathy (HCM) in LS can be reversed by rapamycin (because unlike other RASopathy genes, LS mutants primarily cause Akt/mTorc1 activation). These findings argue for a “personalized” approach to RASopathy treatment.


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