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Paris Brain Institute announces a new research collaboration with Pfizer Inc.

Published on: 16/05/2022 Reading time: 1 min
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Paris Brain Institute announces a new research collaboration with Pfizer Inc. aimed at advancing the understanding of rare neurodegenerative diseases

The Paris Brain Institute today announced an innovative research project to characterize the genetic mechanisms responsible for two rare neurodegenerative diseases with no currently known therapies. The project, conducted in collaboration with Pfizer Inc.’s Innovative Target Exploration Network (ITEN), is led by Dr. Isabelle Le Ber and Dr. Mathieu Barbier, members of the “Basic to Translational Neurogenetics” research team at the Institut du Cerveau (Paris). Their work aims to study so-called “expansion” diseases, caused by unstable repeats in the gene sequence, to understand the mechanisms by which certain regions of the genome can become unstable and generate these pathological expansions.

Dr. Mathieu Barbier et Dr. Isabelle Le Ber
Dr. Mathieu Barbier and Dr. Isabelle Le Ber

This project will focus on the mechanisms of C9orf72 gene expansions, which are responsible for frontotemporal dementia (FTD) and/or amyotrophic lateral sclerosis (ALS). The characterization of these expansions will allow a better understanding of the molecular basis of these diseases and could lead to the discovery of biological targets aimed at preventing, slowing down, or stopping degenerative processes.

More broadly, this project will study the impact of the identified modifying factors on the clinical presentation of the disease. It also will be part of the search for predictive biomarkers of the age of onset and progression of these genetic diseases, which will be necessary for the development and monitoring of therapeutic trials.

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