Exploring Monogenic Diabetes through Pluripotent Stem Cell-Based Differentiation Systems and CRISPR/Cas9 gene-editing

Línea de investigación

Pancreas development and diabetes.

Descripción

Our primary focus involves the use of cutting-edge techniques in molecular biology and regenerative medicine. Students will receive comprehensive training in two fundamental techniques:

1. CRISPR/Cas9 genome editing: students will learn the principles and practical applications of this revolutionary genome editing tool. They will become familiar with the steps for designing and constructing guide vectors, optimizing genome editing efficiency, and performing genotypic analyses. They will also be instructed on ethical and safety aspects.
2. Culture and differentiation of human pluripotent stem cells (hPSCs): students will acquire knowledge and skills for the proper maintenance hPSC lines, as well as inducing their differentiation into pancreatic lineages. They will be taught protocols and culturing techniques, quality monitoring, and phenotypic characterization of hPSCs and their derivatives.

In our quest to understand diabetes better, we probe genetic variants that escalate diabetes risk in both its monogenic and polygenic forms. Monogenic diabetes, accounting for 1-5% of all diabetes cases, is often underdiagnosed and under-researched. Recognized monogenic variants are predominantly linked with genes vital for endocrine pancreas development. Given that animal models fall short of replicating most human diabetes phenotypes linked with these genetic modifications, we need alternative models for probing human genetics and deepening our understanding of monogenic diabetes. We study clinically relevant genetic alterations putatively linked with monogenic diabetes. Our proposed studies can help determine if observed clinical phenotypes arise from defective endocrine development or abnormal mature β cell function. Furthermore, they shed light on associated molecular mechanisms – invaluable insights for improving diagnosis and treatment modalities for these patients.

Contacto

Alberto Bartolomé Herranz.

Correo electrónico: abartolome@iib.uam.es.

Instituto de Investigaciones Biomédicas Sols-Morreale (IIBM).

Número de plazas ofertadas: 1.