{"id":6174,"date":"2024-04-02T11:16:24","date_gmt":"2024-04-02T09:16:24","guid":{"rendered":"https:\/\/dparafernalia.com\/latinseq\/?page_id=6174"},"modified":"2026-02-25T19:39:35","modified_gmt":"2026-02-25T18:39:35","slug":"about-us","status":"publish","type":"page","link":"https:\/\/latin-seq.com\/en\/information\/about-us\/","title":{"rendered":"About Us"},"content":{"rendered":"

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Project Coordination, JWMDRC, Newcastle<\/h3><\/span>
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Principal Investigator<\/div><\/div>
Dra. Ana T\u00f6pf<\/div><\/div>
Senior Research Associate, JWMDRC, Newcastle University<\/div>
Leader of the NGS Group at JWMDRC<\/div>
Bachelor's Degree in Biological Sciences, University of Buenos Aires<\/div>
PhD in Biological Sciences, University of Durham<\/div><\/div><\/div>
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Co-Principal Investigator<\/div><\/div>
Prof. Jordi D\u00edaz Manera<\/div><\/div>
William Leech Professor of Neuromuscular Diseases, Translational Medicine and Genetics, JWMDRC, Newcastle University<\/div>
Honorary Consultant in Genetics, The Newcastle upon Tyne Hospitals Trust<\/div><\/div><\/div>
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Project Manager<\/div><\/div>
Alejandro Gonz\u00e1lez Chamorro<\/div><\/div>
Project Manager, JWMDRC, Newcastle University<\/div>
Data Analysis Apprentice<\/div>
Bachelor\u2019s degree in architecture, Spain<\/div><\/div><\/div>
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JWMDRC, NEWCASTLE<\/h3><\/span>
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Research Associate<\/div><\/div>
Dra. Leonela Luce<\/div><\/div>
Genetic Data Analysis<\/div>
Single gene pre-screening and validation analysis<\/div>
Research Associate, JWMDRC, Newcastle University<\/div><\/div><\/div>
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Lab Technician<\/div><\/div>
Joel Mannion<\/div><\/div>
Technical Support<\/div>
Masters in Biomedical Genetics, Newcastle Univeristy<\/div><\/div><\/div>
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Clinical Research Associate<\/div><\/div>
Dra. Marianela Schiava<\/div><\/div>
Clinical Data Analysis<\/div>
Medical specialist in adult neurology (C\u00e9sar Milstein Hospital, Buenos Aires, and specialist training programme at the University of Buenos Aires, Argentina)<\/div>
Fellowship in neuromuscular disorders and electromyography, British Hospital, Buenos Aires, Argentina<\/div>
Clinical Research Associate at the JWMDRC, UK<\/div>
Final-year PhD student at the JWMDRC and Newcastle University, UK<\/div><\/div><\/div>
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JWMDRC Biobank, Newcastle<\/h3><\/span>
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Biobank Manager<\/div><\/div>
Dan Cox<\/div><\/div>
Sample archiving<\/div>
Internal Quality Assurance Manager, JWMDRC, Newcastle University<\/div><\/div><\/div>
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Biobank Technician<\/div><\/div>
Andrew Galloway<\/div><\/div>
DNA extraction<\/div>
Laboratory Technician, JWMDRC, Newcastle University<\/div><\/div><\/div>
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Hospital Sant Joan de D\u00e9u, BARCELONA<\/h3><\/span>
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Coordination Support<\/div><\/div>
Dr. Andr\u00e9s Nascimento<\/div><\/div>
Coordinator of the Neuromuscular Pathology Unit, Sant Joan de D\u00e9u Hospital, and the Comprehensive Care Unit for Neuromuscular Patients (UTIN), Spain<\/div>
Member of the National Referral Centres (CSUR) and the European Reference Network for Rare Neuromuscular Diseases (ERN-EURO-NMD)<\/div>
Scientific Advisor for patient associations with neuromuscular diseases<\/div><\/div><\/div>
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Coordination Support<\/div><\/div>
Dr. Carlos Ortez<\/div><\/div>
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Former team members, JWMDRC, Newcastle<\/h3><\/span>
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Lab Assistant<\/div><\/div>
Pilar Maestre<\/div><\/div>
Pre-screening Analysis<\/div>
Biotechnologist, Spain<\/div>
Research Student in Translational Medicine, Germany<\/div><\/div><\/div>
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Lab Technician<\/div><\/div>
Adam McFarlane<\/div><\/div>
Sample processing<\/div>
Laboratory Technical Specialist, JWMDRC, Newcastle University<\/div><\/div><\/div>
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STEERING COMMITTEE<\/h3><\/span>
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Principal Investigator<\/div><\/div>
Dra. Ana T\u00f6pf<\/div><\/div>
Senior Research Associate, JWMDRC, Newcastle University<\/div>
Leader of the NGS Group at JWMDRC<\/div>
Bachelor's Degree in Biological Sciences, University of Buenos Aires<\/div>
PhD in Biological Sciences, University of Durham<\/div><\/div><\/div>
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Co-Principal Investigator<\/div><\/div>
Prof. Jordi D\u00edaz Manera<\/div><\/div>
William Leech Professor of Neuromuscular Diseases, Translational Medicine and Genetics, JWMDRC, Newcastle University<\/div>
Honorary Consultant in Genetics, The Newcastle upon Tyne Hospitals Trust<\/div><\/div><\/div>
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Coordination Support<\/div><\/div>
Dr. Andr\u00e9s Nascimento<\/div><\/div>
Coordinator of the Neuromuscular Pathology Unit, Sant Joan de D\u00e9u Hospital, and the Comprehensive Care Unit for Neuromuscular Patients (UTIN), Spain<\/div>
Member of the National Referral Centres (CSUR) and the European Reference Network for Rare Neuromuscular Diseases (ERN-EURO-NMD)<\/div>
Scientific Advisor for patient associations with neuromuscular diseases<\/div><\/div><\/div>
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Dr. Jorge Alfredo Bevilacqua Rivas<\/div><\/div>
Associate Professor and Coordinator of the Neuromuscular Unit, Department of Neurology and Neurosurgery, University of Chile Clinical Hospital, Faculty of Medicine, University of Chile.<\/div>
Coordinator of the Neuromuscular Pathology Unit and Myology Laboratory, Neuroscience Centre, Cl\u00ednica D\u00e1vila, Santiago.<\/div>
Specialist in Adult Neurology and Electrophysiologist (EMG and NCS), University of Chile Clinical Hospital.<\/div>
Coordinator of the Euro-Latin American Myology School (EVELAM).<\/div>
Member of the Continuous Education Committee of Treat-NMD.<\/div>
Honorary Foreign Member of the French Society of Neurology (SFN).<\/div>
Member of the AAANEM and AAN.<\/div><\/div><\/div>
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Dra. Ma Soledad Monges<\/div><\/div>
Paediatric neurologist. Head of the Neurology Department and coordinator of the care, teaching, and research programme for neuromuscular patients at J. P. Garrahan Paediatric Hospital.<\/div>
President of the Argentine Society of Paediatric Neurology.<\/div><\/div><\/div>
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Dra. Peggy Mart\u00ednez Esteban<\/div><\/div>
Neurologist, MSc in Neurosciences. Neurology Service, Clinical Neurophysiology Coordinator, National Institute of Child Health San Borja, Lima, Peru.<\/div>
Member of the Peruvian Society of Neurology. Director of the Neuromuscular Diseases Chapter of the Peruvian Society of Neurology.<\/div>
Director of Neuromusculares Peru.<\/div><\/div><\/div>
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Dr. Marco Javier Casartelli Galeano<\/div><\/div>
Director of the National Neonatal Screening Programme, Ministry of Public Health and Social Welfare of Paraguay.<\/div>
Head of the Paediatric Neurology Service, General Paediatric Hospital Ni\u00f1os de Acosta \u00d1u, Asunci\u00f3n, Paraguay.<\/div>
Doctor of Medicine and Surgery, Faculty of Medical Sciences, National University of Asunci\u00f3n.<\/div>
Assistant Physician in the Neurology Service, Sant Joan de D\u00e9u Hospital, Barcelona, Spain (2007\u20132010).<\/div><\/div><\/div>
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Dra. Juliana Gurgel Giannetti<\/div><\/div>
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Dr. Alfonso Guti\u00e9rrez Mata<\/div><\/div>
Paediatric Neurologist, Neurology Department, National Children's Hospital \"Dr Carlos S\u00e1enz Herrera\", San Jos\u00e9, Costa Rica<\/div>
Coordinator of the Neuromuscular Diseases Clinic<\/div>
Member of the Ibero-American Academy of Paediatric Neurology (AINP)<\/div><\/div><\/div>
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Dra. Rosa Elena Escobar Cedillo<\/div><\/div>
Faculty of Medicine, National Autonomous University of Mexico (U:N:A)<\/div>
Head of the Electromyography and Muscular Dystrophy Service at the National Rehabilitation Institute, Mexico City<\/div>
Specialist in Rehabilitation Medicine. Master\u2019s degree in health sciences. Advanced Specialisation in Neuromuscular Diseases. Advanced Specialisation in Electrodiagnostic Medicine. Medical Secretary of the Mexican Society of Muscular Dystrophy A.C.<\/div><\/div><\/div>
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Participating Centres<\/h3><\/span>
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FUNDING<\/h3><\/span>
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The Latin-SEQ team in Newcastle has secured funding for the first four years of the project. This will enable the formation of the consortium and the sequencing and analysis of the first 1,000 patients with neuromuscular diseases recruited in LATAM. The costs for shipping biological samples to Newcastle upon Tyne, UK, as well as the materials required for sample collection and packaging, will be covered by the project coordination. However, other costs related to patient recruitment and sample management will be the responsibility of each participating institution.<\/p>\n<\/div><\/div><\/div><\/div><\/div>

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Current Funding<\/h4><\/span>
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Previous Funding<\/div><\/h4><\/span>
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