Imperial College London
Professor Philippe Froguel

ProfessorPhilippeFroguel

Faculty of Medicine, Department of Metabolism, Digestion and Reproduction

Chair in Genomic Medicine
 
 
 
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Contact

 

+44 (0)20 7594 6520p.froguel

 
 
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Assistant

 

Mrs Patricia Murphy +44 (0)20 7594 1603

 
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Location

 

E306Burlington DanesHammersmith Campus

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Summary

 

Publications

Citation

BibTex format

@inbook{Vaxillaire:2017:10.1159/000454695,
author = {Vaxillaire, M and Froguel, P},
booktitle = {Diabetes Associated with Single Gene Defects and Chromosomal Abnormalities},
doi = {10.1159/000454695},
pages = {26--48},
title = {Maturity-onset diabetes of the young: From genetics to translational biology and personalized medicine},
url = {http://dx.doi.org/10.1159/000454695},
year = {2017}
}
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RIS format (EndNote, RefMan)

TY  - CHAP
AB  - Monogenic diabetes is defined as diabetes resulting from a rare causal deleterious mutation of a single gene that usually impairs pancreatic ß-cell function. There is a large spectrum of clinical presentations of monogenic diabetes, depending on the affected gene and the nature of the mutation. Maturity-onset diabetes of the young (MODY) is the most frequent, representing 1-2% of all diabetes cases. MODY is dominantly inherited with early-onset nonautoimmune diabetes. At least 14 MODY genes have been identified so far, including key genes involved in developmental and/or functional processes of the pancreatic β-cell physiology. These discoveries remarkably modified patients' care, improving their quality of life and long-term evolution, and offer proof-of-concepts of successful genomic diabetes medicine. Further, recent advances in genome editing and pluripotent stem-cell reprogramming technologies are providing new opportunities and challenges for in vitro human cell-based diabetes modelling and for novel drugs and cell-based diabetes therapy discovery. This review chapter focuses on the lessons learned from MODY gene identification to clinical translational research and implementation of personalized genomic medicine, as well as on future directions to further elucidate and better understand the pathophysiological mechanisms underlying early-onset monogenic diabetes.
AU  - Vaxillaire,M
AU  - Froguel,P
DO  - 10.1159/000454695
EP  - 48
PY  - 2017///
SN  - 9783318060249
SP  - 26
TI  - Maturity-onset diabetes of the young: From genetics to translational biology and personalized medicine
T1  - Diabetes Associated with Single Gene Defects and Chromosomal Abnormalities
UR  - http://dx.doi.org/10.1159/000454695
ER  -
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