Graeme Bell
· Kovler Family Distinguished Service Professor of Medicine Committee on Genetics, Genomics and Systems Biology Committee on Molecular Metabolism and NutritionUniversity of Chicago · Endocrinology, Diabetes and Metabolism
Active 1976–2024
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About
Graeme Bell is the Kovler Family Distinguished Service Professor of Medicine at the University of Chicago, where he is also a member of the Committee on Genetics, Genomics and Systems Biology and the Committee on Molecular Metabolism and Nutrition. His research program focuses on the genetics of diabetes and other metabolic disorders, with particular emphasis on insulin mutations and diabetes. Dr. Bell has contributed to understanding the genetics underlying diabetes through extensive research, including exome sequencing of large cohorts and studies on insulin gene mutations. His work has provided insights into diagnosis and treatment, exemplified by over a decade of research through the University of Chicago Monogenic Diabetes Registry. He has been recognized with numerous awards, including the Banting Medal for Scientific Achievement from the American Diabetes Association, the Manpei Suzuki International Prize for Diabetes Research, and election to prestigious organizations such as the American Academy of Arts and Sciences, the National Academy of Medicine, and the American Association for the Advancement of Science.
Research topics
- Endocrinology
- Medicine
- Internal medicine
- Biology
- Bioinformatics
- Genetics
- Pediatrics
- Family medicine
- Computational biology
Selected publications
American Journal of Respiratory Cell and Molecular Biology · 2017-10-27 · 88 citations
reviewOpen accessAbstract Obstructive sleep apnea (OSA) is a common heritable disorder displaying marked sexual dimorphism in disease prevalence and progression. Previous genetic association studies have identified a few genetic loci associated with OSA and related quantitative traits, but they have only focused on single ethnic groups, and a large proportion of the heritability remains unexplained. The apnea–hypopnea index (AHI) is a commonly used quantitative measure characterizing OSA severity. Because OSA di…
In celebration of a century with insulin – Update of insulin gene mutations in diabetes
Molecular Metabolism · 2021 · 51 citations
BACKGROUND: While insulin has been central to the pathophysiology and treatment of patients with diabetes for the last 100 years, it has only been since 2007 that genetic variation in the INS gene has been recognised as a major cause of monogenic diabetes. Both dominant and recessive mutations in the INS gene are now recognised as important causes of neonatal diabetes and offer important insights into both the structure and function of insulin. It is also recognised that in rare cases, mutations…
Evaluating the contribution of rare variants to type 2 diabetes and related traits using pedigrees
Proceedings of the National Academy of Sciences · 2017-12-26 · 35 citations
articleOpen accessSignificance Contributions of rare variants to common and complex traits such as type 2 diabetes (T2D) are difficult to measure. This paper describes our results from deep whole-genome analysis of large Mexican-American pedigrees to understand the role of rare-sequence variations in T2D and related traits through enriched allele counts in pedigrees. Our study design was well-powered to detect association of rare variants if rare variants with large effects collectively accounted for large portio…
Frontiers in Clinical Diabetes and Healthcare · 2021 · 18 citations
(16%). Over the last decade, improvements in data collection for the University of Chicago Monogenic Diabetes Registry have resulted in increased knowledge of the natural history of monogenic diabetes, as well as a better understanding of the most effective treatments. The University of Chicago Monogenic Diabetes Registry serves as a valuable resource that will continue to provide evidence to support improved clinical care and patient outcomes in monogenic diabetes.
Functionally oriented analysis of cardiometabolic traits in a trans-ethnic sample
Human Molecular Genetics · 2019-01-08 · 16 citations
articleOpen accessInterpretation of genetic association results is difficult because signals often lack biological context. To generate hypotheses of the functional genetic etiology of complex cardiometabolic traits, we estimated the genetically determined component of gene expression from common variants using PrediXcan (1) and determined genes with differential predicted expression by trait. PrediXcan imputes tissue-specific expression levels from genetic variation using variant-level effect on gene expression…
Recent grants
NIH · $38.6M · 1996–2028
Integrated Clinical and Basic Endocrinology Research
NIH · $8.1M · 1975–2026
NIH · $4.8M · 2003
Frequent coauthors
- 227 shared
Nancy J. Cox
- 164 shared
Jun Takeda
Juntendo University
- 135 shared
Markus Stoffel
ETH Zurich
- 113 shared
James Scott
- 108 shared
Kazuya Yamagata
Kumamoto University
- 106 shared
Susumu Seino
Kobe University
- 104 shared
Donald F. Steiner
University of Chicago
- 101 shared
Susan Colilla
Teva Pharmaceuticals (Australia)
Labs
Education
- 1977
Ph.D., Biochemistry
University of California San Francisco
- 1971
M.S., Biology
University of Calgary
- 1968
B.S., Zoology
University of Calgary
Awards & honors
- The Banting Medal for Scientific Achievement of the American…
- Manpei Suzuki International Prize for Diabetes Research (201…
- Fellow of the American Association of the Advancement of Sci…
- American Academy of Arts and Sciences (2008)
- National Academy of Medicine (1998)
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