Reut Elias (Malca), M.Sc.

Former student at Dr. Pablo Blinder's laboratory

Research title
Exploring the Chorea- acanthocytosis disease using induced pluripotent stem cells

Research project

Neuroacanthocytosis (NA) is a group of diseases that involves degeneration of the nervous system and deformed red blood cells with spike like protrusion, giving its name from the Greek word acantha (thorn), acanthocytosis.
Chorea acanthocytosis (ChAc) is a disease that belongs to the neuroacanthocytosis family and it is characterized with abrupt and involuntary movements of the limbs and the orofacial region.
The main affected region of the brain in chorea acanthocytosis is the head of caudate nucleus, part of the striatum, which shows a major degeneration. Since the most affected region in the brain is the striatum, we decided to investigate the changes related with its microcircuitry, focusing on major inputs of the striatum from the midbrain dopaminergic system.
The model we decided to use in order to test different aspects of the midbrain dopaminergic neurons is the induced pluripotent stem cells (iPSCs), a model that is widely used to explore degenerative disease, such as chorea acanthocytosis.
We have started to test for differences between iPSCs derived neurons from ChAc patients and healthy controls using immunostaining and calcium imaging methods.