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Toni I. Pollin, PhD

Academic Title:

Associate Professor

Primary Appointment:


Secondary Appointment(s):

Epidemiology & Public Health

Additional Title:

Track Leader, Human Genetics; Program in Epidemiology and Human Genetics, Graduate Program in Life Sciences


HSF III, 670 West Baltimore Street, Room 4040

Phone (Primary):

(410) 706-1630


(410) 706-1622

Education and Training

  • The George Washington University, BS, Biology (Math Minor), 1993
  • University of Minnesota, MS, Molecular, Cellular, Developmental Biology and Genetics/ Genetic Counseling, 1997
  • University of Maryland Baltimore, PhD, Human Genetics, 2004


Dr. Pollin is a human geneticist and board certified genetic counselor. Her current research program consists of three main areas: (1) using analytical tools to identify genes and genetic variants involved in susceptibility and response to treatment and preventive intervention for type 2 diabetes and related traits in the Amish, the Diabetes Prevention Program (DPP) and Treatment Options for Type 2 Diabetes in Adolescents and Youth (TODAY) Study; (2) elucidating the function of apolipoprotein C-III and cardioprotective and metabolic effects of its deficiency through deep phenotyping of carriers of the first known null mutation in the APOC3 gene which she discovered in 2008 (NIH R01 HL104193); and (3) integration of genomic medicine into health care.  In this latter area, she leads the Personalized Diabetes Medicine Program (PDMP), an NHGRI-funded (U01 HG007775) IGNITE (Implementing Genomics in Practice) Network Project designed to develop, disseminate and evaluate a sustainable approach to the detecting, genomically diagnosing and promoting individualized therapy for individuals with monogenic forms of diabetes and a cross-NHGRI payer/stakeholder engagement effort.  She co-leads the NICHD-funded (U24 HD093486) ClinGen Genomic Clinical Variant Expert Curation Panel for Monogenic Diabetes, which complements the PDMP in addressing the underdiagnosis of highly genetic forms of diabetes in which a molecular diagnosis is critical for receiving appropriate treatment. 

Research/Clinical Keywords

Genetics, genomics, diabetes, genetic counseling, genetic epidemiology, type 2 diabetes, MODY, monogenic diabetes, apoC-III, Amish, pharmacogenetics, gene/environment interaction

Highlighted Publications

Kleinberger JW, Copeland KC, Gandica RG, Haymond MW, Levitsky LL, Linder B, Shuldiner AR, Tollefson S, White NH, Pollin TI for the TODAY Study Group.  Monogenic diabetes in overweight and obese youth diagnosed with type 2 diabetes: the TODAY clinical trial.  Genet. Med. (in press).

Varga TV, Winters AH, Jablonski KA, Horton ES, Khare-Ranade P, Knowler WC, Marcovina SM, Renström F, Watson KE, Goldberg R, Florez JC, Pollin TI, Franks PW. Comprehensive Analysis of Established Dyslipidemia-Associated Loci in the Diabetes Prevention Program. Circ Cardiovasc Genet. 2016 Dec;9(6):495-503. doi: 10.1161/CIRCGENETICS.116.001457. Epub 2016 Oct 26. PubMed PMID: 27784733; PubMed  Central PMCID: PMC5391253.

Kleinberger J, Maloney KA, Pollin TI, Jeng LJ. An openly available online tool for implementing the ACMG/AMP standards and guidelines for the interpretation of  sequence variants. Genet Med. 2016 Nov;18(11):1165. doi: 10.1038/gim.2016.13. Epub 2016 Mar 17. PubMed PMID: 26986878; PubMed Central PMCID: PMC5026899.

Kleinberger JW, Pollin TI. Personalized medicine in diabetes mellitus: current opportunities and future prospects. Ann N Y Acad Sci. 2015 Jun;1346(1):45-56. doi: 10.1111/nyas.12757. Epub 2015 Apr 23. Review. PubMed PMID: 25907167; PubMed Central PMCID: PMC4480162.

Crawford DC, Dumitrescu L, Goodloe R, Brown-Gentry K, Boston J, McClellan B Jr, Sutcliffe C, Wiseman R, Baker P, Pericak-Vance MA, Scott WK, Allen M, Mayo P, Schnetz-Boutaud N, Dilks HH, Haines JL, Pollin TI. Rare variant APOC3 R19X is associated with cardio-protective profiles in a diverse population-based survey as part of the Epidemiologic Architecture for Genes Linked to Environment Study. Circ Cardiovasc Genet. 2014 Dec;7(6):848-53. doi: 10.1161/CIRCGENETICS.113.000369. Epub 2014 Nov 1. PubMed PMID: 25363704; PubMed Central PMCID: PMC4305446.

Stein SA, Maloney KL, Pollin TI. Genetic Counseling for Diabetes Mellitus. Curr Genet Med Rep. 2014 Jun 1;2(2):56-67. PubMed PMID: 25045596; PubMed Central PMCID: PMC4097380

Pollin TI, Damcott CM, Shen H, Ott SH, Shelton J, Horenstein RB, Post W, McLenithan JC, Bielak LF, Peyser PA, Mitchell BD, Miller M, O'Connell JR, Shuldiner AR. A null mutation in human APOC3 confers a favorable plasma lipid profile and apparent cardioprotection. Science. 2008 Dec 12;322(5908):1702-5. doi: 10.1126/science.1161524. PubMed PMID: 19074352; PubMed Central PMCID:PMC2673993.

Clinical Specialty Details

  • Diplomate, American Board of Genetic Counseling, 1999 - present

In the News

Kuehn, Bridget M.  "Pilot Programs Seek to Integrate Genomic Data into Practice."  JAMA 1 August 2017:  318(5):410-412.  Available WWW

Avril, Tom.  "In the fight against heart disease, gene-hunters follow trail from the Amish to Pakistan. The Inquirer 6 March 2017.  Available WWW

Erdmann, Jeanne.  "Pinpointing Diabetes."  Genome Magazine 11 January 2016.  Available WWW

McDaniels, Andrea K.  "University of Maryland School of Medicine researchers are studying a rare form of diabetes." The Baltimore Sun 23 December 2015: A1.  Available WWW

Kolata, Gina.  "In Single Gene, a Path to Fight Heart Attacks."  The New York Times 18 June 2014:  A1.  Available WWW 

Kolata, Gina.  "Gene Mutation is Tied to Fast Fat Breakdown."  The New York Times 11 December 2008:  A32.  Available WWW

Community Service

  • Mentor, Thread (