Amanda Ramos Reche
Design and validation of multiplex PCR for molecular diagnosis of Spinocerebelar Ataxias
Institution Center: CIRN - Centro de Investigação em Recursos Naturais
State: closed

The current diagnosis of the SCA disorders employs a panel that requires individual assays for the most prevalent types of SCAs, usually SCA1, SCA2, SCA3, SCA6 and SCA7. The methodology used is labor intensive, requiring the analysis of each locus individually, thus being expensive and time-consuming.
Aiming to resolve this constraint, the main objective of this project is to design and validate a rapid and precise method that can be used for the molecular diagnosis of all of the expansion spinocerebellar ataxias.

The main objective will be achieved with the development of the following specific aims:
1. To perform a thorough compilation of all available genomic information related to expansion SCAs (SCA1, SCA2, SCA3, SCA6, SCA7, SCA8, SCA12, SCA17, DRPLA) which will allow thorough description of the molecular variation within the flanking regions of the different loci.
2. To develop a strategy for the design of a multiplex PCR, including the primer design and optimization of the reaction.
3. To validate the multiplex PCR for diagnosis of expansion SCAS, therefore increasing its future utility for the diagnosis of expansion SCAs
4. To transfer the technology developed for laboratories of analysis and diagnosis of diseases and/or ensure diffusion of the results.