Modelling monogenic diabetes using induced pluripotent stem cells (iPSCs)

Diabetes is characterized by the body's inability to regulate blood glucose levels. Pancreatic beta cells regulate glucose through insulin release. Monogenic Diabetes is a rare type of diabetes caused by gene mutations that make beta cells dysfunctional. During this project, iPSCs derived from patients with Monogenic Diabetes and healthy donors will be used to understand how specific mutations affect pancreas development. The mechanism of action of the mutants will be investigated in vitro and in vivo. Through further understanding of the heterogeneity of Monogenic Diabetes phenotypes, this project aims to reveal more accurate detection targets and opportunities for personalised treatment.

Publications:

Phenotypic plasticity in the pancreas: new triggers, new players. T.I. Demcollari, A.M. Cujba, R. Sancho. Curr Opin Cell Biol. 2017;49:38-46.

Homeostasis, regeneration and tumour formation in the mammalian epidermis. D. Belokhvostova, I. Berzanskyte, A.M. Cujba, G. Jowett, L. Marshall, J. Prueller, F.M. Watt. Int J Dev Biol. 2018;62:571-582.

Imaging-based screen identifies Laminin 411 as a physiologically relevant niche Factor with importance for i-Hep Applications. J. Ong, M.P. Serra, J. Segal, A.M. Cujba, S.S. Ng, R. Butler, V. Millar, S. Hatch, S. Zimri, H. Koike, K. Chan, A. Bonham, M. Walk, T. Voss, N. Heaton, R. Mitry, A. Dhawan, D. Ebner, D. Danovi, H. Nakauchi, S.T. Rashid. Stem Cell Reports 2018;10(3):693-702. 

Contribution of GATA6 to homeostasis of the human upper pilosebaceous unit and acne pathogenesis. B. Oules, C. Philoppeos, J. Segal, M. Tihy, M. Vietri Rudan, A.M. Cujba, P.A. Grange, S. Quist, K. Natsuga, L. Deschamps, N. Dupin, G. Donati, F.M. Watt. Nat Commun. 2020;11(1):5067. 

Stem/progenitor cells in normal physiology and disease of the pancreas. M.E. Alvarez Fallas, S. Pedraza-Arevalo, A.M. Cujba, T. Manea, C. Lambert, R. Morrugares, R. Sancho. Mol Cell Endocrinol. 2021;538:111459.