2010 AnnuAl REpoRT - Ciberdem

Area 3 of CIBERDEM comprises thirteen groups focused on developing new tools and knowledge for the molecular
diagnosis of beta-cell function and for the cell and gene therapy of diabetes.
Research initiated in previous years led to a remarkable number of articles, reviews and editorials (45), books and book
chapters being published in 2010 in renowned publications including outstanding medical journals. Basic research into
molecular mechanisms in metabolism, physiology and signalling in beta cells demonstrated the important role of key
molecules such as GLP-1, ANP/ GC-A system, glucocorticoids, TH, PKCdelta, SOCS2, IRS2, TMEM2, and BACE2, which
resulted in 19 publications. Cell- and gene-therapy approaches to recover beta-cell mass is an emerging field and novel
findings involving mesenchymal stem cells, embryonic stem cells and bone marrow cells were reported in 6 articles.
In addition, studies with human islet samples resulted in significant advances in knowledge about epigenic regulation
of beta cells (open chromatin map) and the characterization of TMEM27 as a potential biomarker of beta-cell mass.
Human genetic studies were also conducted this year and results involving mutations in GCK, SUR1, KIR6.2 and INS
genes were reported. Furthermore, an in vivo strategy to study combinatorial gene regulation revealed how HNF1alpha
and HNF4alpha control a common islet-cell regulatory programme which is defective in human monogenic diabetes. In
addition to basic research, Area 3 has a strong focus on human clinical studies. In this regard, 21 clinical trials (phases I,
II, III and IV) took place during 2010.
A total of 8 PhD theses were defended, and 4 patents were applied for. It is worthy of note that 12 of the 45 total
publications were in collaboration with other CIBERDEM groups, and 5 with other CIBERs. This demonstrates the good
understanding between CIBERDEM and other CIBER groups.
In summary, the activities conducted during 2010 proved very successful and resulted in key developments in the betacell
field.
Fàtima Bosch
CIBERDEM Scientific Area Coordinator
2010 Annual Report
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