Focus Areas in the Genomic Medicine Cycle
Major leadership positions

Chief, Endocrine Division and Diabetes Unit, MGH

Investigator, Center for Genomic Medicine, MGH

Institute Member, Broad Institute

Professor of Medicine, Harvard Medical School

MGH Unit(s)

Endocrine Division/Diabetes Unit

MGH Dept/Division/Unit(s)

Medicine | Endocrine | Diabetes

Overview

The Florez lab aims to unravel the genetic basis of type 2 diabetes, related metabolic traits and its vascular complications, and provide the rationale for effective, precision-tailored therapies.

The overarching goal is to bring the clinical treatment of diabetes and its complications into the new paradigm of molecular medicine, using genomic, metabolomic, experimental, physiological and pharmacogenetic approaches.

Priority Projects

  1. Accelerated Medicines Partnership in Common Metabolic Diseases (UM1 grant) – This grant supports the Accelerating Medicines Partnership Common Metabolic Diseases (AMP-CMD) Knowledge Portal, which aggregates human genomic data, phenotypes, and annotations relevant to cardio-metabolic traits, automates the analysis and interpretation of these data, communicates the results to scientists across biomedical disciplines, and provides an organizational infrastructure for the AMP-CMD consortium.
  2. GRADE pharmacogenetics – Type 2 diabetes can be treated with various glucose-lowering medications, but guidance to match each drug to the pathophysiology affecting an individual patient is lacking. We plan to leverage the DNA samples and data of consented 4,725 participants in the Glycemia Reduction Approaches in Diabetes: A Comparative Effectiveness (GRADE) Study to conduct a genome-wide association study, in which we will identify genetic determinants of drug response, of glycemic traits relevant to specific modes of action, of side effects, and of diabetic complications. This pharmacogenomic resource will also enable the testing of polygenic scores constructed from established genetic variants for association with drug response endpoints, to advance precision medicine in diabetes.
  3. GENIE – The GEnetics of Nephropathy – an International Effort consortium assembles investigators at the Massachusetts General Hospital, Boston Children’s Hospital and Broad Institute in Boston, the University of Helsinki, Queen’s University Belfast, University College Dublin, the University of Michigan and the University of Pennsylvania to discover genetic determinants of diabetic kidney disease (D). It catalyzed the formation of the JDRF-funded Diabetic Nephropathy Collaborative Research Initiative, which has aggregated the largest collection of DKD cases and controls with type 1 diabetes in the world. The Florez and Hirschhorn labs lead the efforts of a genome-wide association and exome chip study in 18,000 cases and controls. 
  4. RADIANT – This center grant funds the activities of the Rare and Atypical Diabetes Network (RADIANT) to pursue the identification and study of new cases of rare/atypical forms of diabetes.

Lab Members

Name:Email:Role:
Vicky Kaurvkaur [@] mgh.harvard.eduLab Manager
Pam RicevutoPricevuto [@] partners.orgAdmin Manager
Lynette Desharnaisldesharnais [@] partners.orgStaff Asst III
Jordi Merinojmerino [@] mgh.harvard.eduResearch Staff
Laura Brennerlnbrenner [@] partners.orgAssistant in Medicine
Joanne Colejcole [@] broadinstitute.orgInstructor in Investigation
Sara Cromerscromer [@] partners.orgAssistant in Medicine
Aaron Deutschajdeutsch [@] mgh.harvard.eduClinical and Research Fellow in Medicine
Aaron Leongasleong [@] partners.orgAssistant in Medicine
Josephine LiJli71 [@] mgh.harvard.eduAssistant in Medicine
Josep Mercadermercader [@] broadinstitute.orgResearch Staff MGH
Camille PoweCamille.Powe [@] MGH.HARVARD.EDUAssistant in Medicine
Lukasz Szczerbińskilukasz.szczerbinski [@] umb.edu.plNon-Employee/Visiting Post-Doc
Khanhdu Sara Viet HoKSHO [@] mgh.harvard.eduNon-Employee/Student
Huy Nguyenhnguyen58 [@] mgh.harvard.eduNon-Employee/Student
Ravi Mandlarmandla [@] broadinstitute.orgStatistician – analyst
Lab/Contact Telephone

Pam Ricevuto: 617-643-8630

Primary Email
Lab Website