Scholarship 16/08794-4 - Epilepsia, Neuroinflamação - BV FAPESP
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USING THE CRISPR/CAS9 SYSTEM TO CREATE A LAFORA DISEASE MODEL IN ZEBRAFISH: INVESTIGATING NEUROINFLAMMATION IN EPILEPSY

Grant number: 16/08794-4
Support Opportunities:Scholarships abroad - Research Internship - Doctorate
Start date until: September 28, 2016
End date until: March 30, 2017
Field of knowledge:Health Sciences - Medicine
Principal Investigator:Cláudia Vianna Maurer Morelli
Grantee:Patrícia Gonçalves Barbalho
Supervisor: Shawn Michael Burgess
Host Institution: Faculdade de Ciências Médicas (FCM). Universidade Estadual de Campinas (UNICAMP). Campinas , SP, Brazil
Institution abroad: National Institutes of Health, Bethesda (NIH), United States  
Associated to the scholarship:13/19151-9 - EXPLORING DIFFERENT THERAPEUTIC APPROACHES FOR SEIZURE SUPPRESSION USING THE ZEBRAFISH MODEL, BP.DR

Abstract

Lafora Disease (LD) is a severe form of myoclonic epilepsy, characterized by early-adolescence onset and significant neurodegeneration that progress to dementia and ataxia, leading to death within 10 years. Mutations in two genes, EPM2A and the NHLRC1 have been identified to be responsible for this disease. Recently, it has been shown an increase of inflammatory mediators along with the LD progression, suggesting a pathogenic role of inflammation in LD. Zebrafish is a valuable model for genetic manipulations and a suitable alternative to assess the effects of anti-inflammatory compounds on seizure suppression. The generation of epm2a loss-of-function mutations in zebrafish using CRISPR/Cas9 represents an efficient means to better understand the molecular mechanisms underlying LD and to explore therapeutic strategies towards phenotype-specific interventions in LD, as drug screening studies. Therefore, the main aim of this project is to have a hands-on training in genome editing using CRISPR-Cas9 system in zebrafish in order to create a model of LD. For this purpose, the internship will be take place in the laboratory of Dr. Shawn Burgess at the National Institutes of Health (NIH), Bethesda, MD. Dr. Burgess is a distinguished researcher focused on gene knockout technologies in zebrafish, including extensive experience using the CRISPR-Cas9 system.

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