Disomic and trisomic pluripotent stem cell (iPSC) to study pharmacologic intervention affecting gene expression patterns in other chromosomes.

The Picower Institute for Learning and Memory, MIT

Principal Investigator: 

  • Dr. Hiruy Meharena, PhD 2017

Model generation

Target identification through stem cell research

Using stem cell research, Dr.Meharena is attempting to better and more rapidly understand the molecular basis of how trisomy 21 affects cognitive function in people with Down syndrome (Ds). In addition, the results may expedite drug screening and discovery by allowing direct testing of compounds and therapies.

Dr. Meharena’s lab collected a type of easy- to-grow skin cells from individuals with and without Down syndrome, and reprogrammed them into what is known as induced pluripotent stem cells (iPSCs). For his work, Dr. Meharena is utilizing these iPSCs to generate several specific cell types of the brain in order to identify gene expression mechanisms that are unique to Ds.

The use of cellular models to study human conditions is a powerful tool that scientists rely on to better understand the most basic aspects of a given pathology. In order to create appropriate models for use in the lab, major biomedical advances during the last decade have allowed scientists to non-invasively isolate and reprogram cells derived from patients.

Compared to the use of animal models, the biggest advantage of this model-generation method is the opportunity to study the connections among human-derived cells, their (dys)function, and the targeted human conditions. Also, using this “reprogramming” strategy, researchers can generate a large repertoire of cells that resemble many of the different cells of the body without the need for tissue or organ donation.

 

Progress

Timeline

Type

Target Life-stage

Ongoing stem cell work using skin cells
Several years until preclinical trials
Model generation
Life-long