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Jose Florez’s laboratory
is engaged in translating new genetic findings
from type 2 diabetes research into the clinical
arena. He and his group help generate and
analyze emerging genetic data in order to:
(1) provide a more refined understanding
of type 2 diabetes, both by dissecting its
clinical heterogeneity and illuminating
novel mechanistic pathways;
(2) offer a “proof of concept”
for the role of selected genetic variants
significantly associated with diabetes or
related glycemic traits, by showing that
behavioral or pharmacological manipulation
of a particular gene pathway alters specific
phenotypes in humans; and
(3) contribute to usher in the era of genomic
medicine, in which the practical utility
of known genetic variation may be rigorously
tested in the prediction of disease, prognosis
of its clinical course, response to preventive
or therapeutic options and individual susceptibility
to side effects.
To achieve these goals, Jose Florez and
his group have participated in the evaluation
of specific variants in candidate genes
that encode hypoglycemic drug targets with
type 2 diabetes. They have also contributed
to the performance and analysis of genome-wide
association scans in type 2 diabetes and
related traits, both in the Diabetes
Genetics Initiative of the Broad Institute
of Harvard and MIT, Lund University and
Novartis Institutes for BioMedical Research,
as well as the Framingham
Heart Study. His team leads the genetic
research efforts of the Diabetes
Prevention Program, where the effects
of genetic variants on the development of
diabetes can be examined prospectively,
and their impact on specific behavioral
and pharmacological preventive interventions
can be assessed.
Jose Florez has also launched the Study
the Understand the Genetics of the Acute
Response to Metformin and Glipizide in Humans
(SUGAR MGH), which plans to enroll subjects
with early type 2 diabetes (drug-naïve)
or at risk of developing diabetes and treat
them with a single dose of glipizide, followed
by a short course of metformin one week
later. This study will explore the effects
of genotype at specific variants on responses
to commonly used antidiabetic medications.
Jose C. Florez, M.D., Ph.D. graduated from
the combined B.A./M.S. Honors Program at
Northwestern University in 1988 and then
entered the Medical Scientist Training Program
at Northwestern. Upon obtaining his M.D./Ph.D.
degrees, Dr. Florez moved to Boston where
he completed residency training in internal
medicine and a fellowship in endocrinology
at the Massachusetts General Hospital. During
his post-doctoral work he joined Dr. David
Altshuler to investigate the genetics of
type 2 diabetes, with particular attention
to genes that encode hypoglycemic drug targets.
In addition to his research and teaching
duties, he directs the MGH Down Syndrome
Clinic for Adults and Adolescents, and is
clinically active in the MGH Diabetes Center
and in the Endocrine inpatient consult service.
He is an Associate Editor for Diabetologia,
and the recipient of the MGH Physician Scientist
Development Award and the Christian Pueschel
Memorial Award granted by the National Down
Syndrome Congress.
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