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May 20

Research Bit: Dissecting the circuitry of ALS brain to identify clinically relevant blood biomarkers

Research Bits
The Packard Center welcomed Veronique Belzil from the Mayo Clinic to our recent Investigator's Meeting.

Meeting Date: May 17, 2019
Presenter: Veronique Belzil PhD (Mayo Clinic)
Talk Title: Dissecting the circuitry of ALS brain to identify clinically relevant blood biomarkers

What was the question being asked?

Dr. Belzil is evaluating environmental, behavioral, and genetic changes that are incorporated within our genetic code overtime, in order to understand how genetic information corresponds to disease pathogenesis. In doing so, she ultimately hopes to identify potential biomarkers and endpoints to aid in diagnosis and clinical trials.    

Why is this important for ALS research?

Translating genetic information into disease biomarkers not only provides mechanistic insights into ALS pathogenesis but crucially provides new targets that can be used to stratify patient populations for future clinical trials.

What was the take-home message?

Dr. Belzil and her lab have found that while steady state message levels of certain genes remain constant in ALS, the ratio of different versions of these genes appears to be different which in turn may contribute to pathogenesis.

How do you think the results of this study might impact future approaches to the treatment of ALS?

These studies suggest that singular analysis of genetic information may sometimes overlook disease related changes and highlight the need for in depth integration of multiple analyses of genetic marks in order to comprehensively understand ALS and neurodegenerative disease. This knowledge will in turn provide insights into novel biomarkers and therapeutic targets for different clinical subgroups of ALS patients.


Prepared by:

Alyssa Coyne, PhD
Postdoctoral Fellow, Rothstein Lab
Johns Hopkins University School of Medicine

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