The World Muscle Society is delighted to sponsor four Fellows from the International Centre for Genomic Medicine in Neuromuscular Diseases (ICGNMD) to attend its 2022 Congress.

Dr Rodrigo Frezatti is an ICGNMD PhD fellow in the team of Professor Wilson Marques. He is funded by Guarantors of Brain (UK registered charity 1197319) to study the clinical and phenotypic spectra and molecular biology of non-5Q proximal spinal muscular atrophies in Brazil. He is based at the University of São Paulo, Clinical Hospital of Ribeirão Preto.

What has been your education and career path to date?

Graduation in Medicine 2010-2015.
Residency in Neurology 2016-2018
Fellow in neuromuscular diseases 2019
Fellow in electroneuromyography 2020

Since 2021, pursuing a doctorate with research in non 5q spinal amyotrophy and currently, assistant physician in the neuromuscular diseases sector at the Faculty of Medicine of Ribeirão Preto - University of São Paulo

What is your current research project and why is this important?

My project is focused on non 5q spinal muscular atrophy (SMA). About 95% of SMA is caused by biallelic loss of function variants in SMN1 gene, localized in chromosome 5, hence the name 5q SMA. This is a well characterized group for which we have some therapeutical options that increases lifespans and extends mobility. Other genetic causes (collectively termed “non-5Q SMA”) corresponds to the remaining 5% for which we don’t yet have therapeutic options and their causes remain poorly understood.
 
To tackle non-5Q SMAs, we first need to understand their range of physical features and genetic causes, the only way through to better understand this group and better assist the affected individuals. 
 
What are you most passionate about within this field?

To better understand this group of disorders might allow for “translation research” on drug or gene therapies to slow or reverse disease progression. Such research often also sheds light on the biological pathways leading to advances in the field.

How has the ICGMND Fellowship supported your research and career development so far?
 
It has been an amazing opportunity allowing me to be in touch with experts in the field of neurogenetics, improving my clinical and research skills. This opportunity will definitely turn into better patient care and optimize the quality of research. 

What are you looking forward to most about attending the WMS2022 Congress?
 
I would say to attend the pre congress course and to learn with the presented papers, not only with its results but with the methods in doing it as well. 

How does being part of a global research community support your work?

Growing my scientific, clinical and research skills would not be possible otherwise. So, it´s a unique opportunity that is essential for me to become a better specialist in neuromuscular diseases. 
 
What excites you about the future of your field of research?

Creating an assertive flowchart of correlation between the phenotype and probable variants in the heterogeneous and complex group of SMA no 5Q. Besides, and no less important, to deliver a better understanding of the epidemiology of these disorders in Brazil, looking forward to the future possibility of therapeutical approaches.

 

Published on 5 October 2022.

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This article is presented by the Myology developments across the world Committee.

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