International Centre for Genomic Medicine in Neuromuscular Diseases



University of São Paulo (USP) Ribeirão Preto Medical School (FMRP) 

Clinical Hospital of Ribeirão Preto (HCFMRP-USP)  Department of Neurosciences and Behaviour Sciences, Neurogenetics and Neuromuscular Disorders Division

Centre Principal Investigator: 

Wilson Marques Júnior, MD, PhD

Wilson Marques Junior MD PhD


Claudia Ferreia da Rosa Sobreira, MD, PhD

Claudia Ferreira da Rosa Sobreira, MD, PhD







ICGNMD Faculty PI Fellow

Dr Pedro Tomaselli MD,, PhD

Dr Pedro Tomaselli








ICGNMD Fellows:           

Rodrigo Frezatti, MD

Pedro J. Tomaselli, MD, PhD.


Edimar Zanoteli, MD, PhD. USP, São Paulo, SP, Brazil.

Marcondes Cavalcante França Júnior, MD, PhD. UNICAMP, Campinas, SP, Brazil.


Clinical neuromuscular expertise, patients and geographical region:

The Neuromuscular Division from the Clinical Hospital of Ribeirão Preto (HCFMRP-USP, https://site.hcrp.usp.br/?lang=en) is one of the most recognized referral centres for diseases affecting the peripheral nervous system in Brazil. We are based in the countryside of São Paulo State and provide specialized assistance across a catchment area of over 5 million people. Our Hospital is fully maintained by the Public National Health System (SUS). We are committed to provide clinical care, teaching and research to our community. HCFMRP-USP is linked to the Medical School (FMRP, https://www.fmrp.usp.br/en/) from the University of São Paulo (USP, https://www5.usp.br/) and is the primary training centre for neurologists with specific interests in acquired and genetic neuromuscular disorders in South America. We provide both adult and paediatric care, with over 30 neurologists managing over 8,000 outpatient visits per year. We provide a renowned academic research program in Neurology and Neuroscience where relevant and important research is undertaken.

Genetics and preclinical science expertise and facilities:

Our laboratories perform a significant number of molecular diagnostic tests for nucleic acid targets, tandem repeats and copy number variations every year. Tests included are for specific neurogenetic disorders including the common forms of hereditary neuropathies, recessive and dominant forms of ataxias, mitochondrial DNA abnormalities, motor neuron disease and myopathies. Our laboratory has a well-established collaboration with national and international institutes for genomic medicine. The PI of the project, Professor Marques, is one of the pioneers in Brazil of molecular analysis in neurogenetic disorders: he has contributed decades of research to its development and implementation in clinical practice all over the country, including provision of tests for remote areas. 

Summary of current research programmes:

Our group’s primary research interest is to evaluate the epidemiology and the genetic variability of patients with hereditary neuropathy, ataxia, HSP and motor neuron disease from our population. We look for the presence of genetic and environmental modifying factors related to these disorders.

As both leprosy and the demyelinating forms of hereditary neuropathy have abnormalities in the Schwann cell, we also have a specific interest in the electrophysiological characteristics observed in our population with leprosy neuropathy and in the development of protocols with high specificity for its diagnosis, and minimisation of misdiagnosis.

We also have a special interest in mitochondrial diseases, especially those due to respiratory chain involvement. We have a research project for quantification of coenzyme Q10 in different disorders and molecular analysis of nuclear genes and mitochondrial DNA.

Top five publications from the past five years:

SPG11 mutations cause widespread white matter and basal ganglia abnormalities, but restricted cortical damage. Faber I, Martinez ARM, de Rezende TJR, Martins CR Jr, Martins MP, Lourenço CM, Marques W Jr, Montecchiani C, Orlacchio A, Pedroso JL, Barsottini OGP, Lopes-Cendes Í, França MC Jr. Neuroimage Clin. 2018 Jun 9;19:848-857. doi: 10.1016/j.nicl.2018.05.031. eCollection 2018.

Intermediate-length CAG repeat in ATXN2 is associated with increased risk for amyotrophic lateral sclerosis in Brazilian patients. Tavares de Andrade HM, Cintra VP, de Albuquerque M, Piccinin CC, Bonadia LC, Duarte Couteiro RE, Sabino de Oliveira D, Claudino R, Magno Gonçalves MV, Dourado MET Jr, de Souza LC, Teixeira AL, de Godoy Rousseff Prado L, Tumas V, Bulle Oliveira AS, Nucci A, Lopes-Cendes I, Marques W Jr, França MC Jr. Neurobiol Aging. 2018 Sep;69:292.e15-292.e18. doi: 10.1016/j.neurobiolaging.2018.04.020. Epub 2018 May 8.

The genetic heterogeneity of hereditary transthyretin amyloidosis in a sample of the Brazilian population. Lavigne-Moreira C, Marques VD, Gonçalves MVM, de Oliveira MF, Tomaselli PJ, Nunez JC, do Nascimento OJM, Barreira AA, Marques W Jr. J Peripher Nerv Syst. 2018 Jun;23(2):134-137. doi: 10.1111/jns.12259. Epub 2018 Apr 10.

The frequency of the C9orf72 expansion in a Brazilian population. Cintra VP, Bonadia LC, Andrade HMT, de Albuquerque M, Eusébio MF, de Oliveira DS, Claudino R, Gonçalves MVM, Teixeira AL Jr, de Godoy Rousseff Prado L, de Souza LC, Dourado MET Jr, Oliveira ASB, Tumas V, França MC Jr, Marques W Jr. Neurobiol Aging. 2018 Jun;66:179.e1-179.e4. doi: 10.1016/j.neurobiolaging.2018.01.007. Epub 2018 Jan 31.

Hereditary spastic paraplegia type 5: natural history, biomarkers and a randomized controlled trial. Schöls L, Rattay TW, Martus P, Meisner C, Baets J, Fischer I, Jägle C, Fraidakis MJ, Martinuzzi A, Saute JA, Scarlato M, Antenora A, Stendel C, Höflinger P, Lourenco CM, Abreu L, Smets K, Paucar M, Deconinck T, Bis DM, Wiethoff S, Bauer P, Arnoldi A, Marques W, Jardim LB, Hauser S, Criscuolo C, Filla A, Züchner S, Bassi MT, Klopstock T, De Jonghe P, Björkhem I, Schüle R. Brain. 2017 Dec 1;140(12):3112-3127. doi: 10.1093/brain/awx273.

Clinicogenetic lessons from 370 patients with autosomal recessive limb-girdle muscular dystrophy. Winckler PB, da Silva AMS, Coimbra-Neto AR, Carvalho E, Cavalcanti EBU, Sobreira CFR, Marrone CD, Machado-Costa MC, Carvalho AAS, Feio RHF, Rodrigues CL, Gonçalves MVM, Tenório RB, Mendonça RH, Cotta A, Paim JFO, Costa E Silva C, de Aquino Cruz C, Bená MI, Betancur DFA, El Husny AS, de Souza ICN, Duarte RCB, Reed UC, Chaves MLF, Zanoteli E, França MC Jr, Saute JA. Clin Genet. 2019 Oct;96(4):341-353. doi: 10.1111/cge.13597. Epub 2019 Jul 15.

A common CHRNE mutation in Brazilian patients with congenital myasthenic syndrome. Estephan EP, Sobreira CFDR, Dos Santos ACJ, Tomaselli PJ, Marques W Jr, Ortega RPM, Costa MCM, da Silva AMS, Mendonça RH, Caldas VM, Zambon AA, Abath Neto O, Marchiori PE, Heise CO, Reed UC, Azuma Y, Töpf A, Lochmüller H, Zanoteli E.J Neurol. 2018 Mar;265(3):708-713

How the new international centre will benefit our research and clinical programmes:

The international centre will offer a unique opportunity to improve the quality our expertise and access to next generation sequencing. Access to these tests is very restricted in Brazil, so the ICGNMD provides an excellent opportunity to evaluate a large number of patients.

The opportunity to work with leading specialists in each of these areas will be the most important benefit. Actively participating in the process of seeing patients, investigating patients and then analysing the genetic basis of their disease will certainly permanently improve our skills as medical doctors and clinical scientists. This is an immeasurable acquisition that will be naturally transmitted to all our fellows.