Stem cell-based systems for modelling human diseases in patient-specific genetic background

Induced pluripotent stem cells (iPSCs) are reprogrammed from human somatic cells through ectopic expression of various transcription factors. The iPSC technology was pioneered by Shinya Yamanaka’s laboratory in Kyoto, Japan. This breakthrough scientific achievement won the Nobel Prize in Physiology or Medicine in 2012 “for the discovery that mature cells can be reprogrammed to become pluripotent”.

iPSCs derive from skin or blood cells that have been reprogrammed back into an embryonic-like pluripotent state, which, in turn, can differentiate into different types of cells within the body, representing an unlimited source of any type of human cell needed for research or therapeutic purposes. The ever-improving technology to generate iPSCs has increased their applicative potential including disease modeling, drug testing and toxicology screening as well as regenerative medicine and cell therapy.

STREAMLINE goal is to raise the quality of research and innovation of the Institute of Molecular Genetics and Genetic Engineering (IMGGE), University of Belgrade by introducing novel stem cell-based systems for modelling human diseases in patient-specific genetic background and by acquiring cutting-edge technology in generating brain organoids, unique 3D model systems that will provide further progress in understanding brain development and brain pathologies.

Dr. Danijela Drakulić and Dr. Nataša Kovačević Grujičić, associates of the Laboratory for Human Molecular Genetics, IMGGE, University of Belgrade, picked the first colonies of iPSCs derived from patients with familial form of the 22q11.2 deletion syndrome during staff exchange at Cardiff University as part of the exploratory research project within STREAMLINE. The obtain iPSCs will be further differentiated into neuronal and astroglial cells.  This stem cell-based systems for modelling human diseases combined with the generation of brain organoids provide an opportunity to recapitulate both normal and pathologic human tissue formation in vitro, enabling genuine disease investigation and further progress in understanding molecular mechanisms of neurodevelopmental disorders.

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