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FMUL/CAML and APELA involved in collecting DNA samples

By Ana Raquel Moreira On 7 December, 2016 2016 | FMUL News Comments Off on FMUL/CAML and APELA involved in collecting DNA samples Tags: tile

news-63_mine

The Institute of Physiology of the Faculty of Medicine of the University of Lisbon and its interaction with the IMM and CHLN in the context of the CAML, together with APELA (Association of Patients with Amyotrophic Lateral Sclerosis) sent a set of DNA samples from Portuguese patients to the MiNE Project.

The Newsletter interviewed Professor Mamede de Carvalho, Director of the Institute, who told us about this participation and informed us about this project.

news-63_mine-prof-mamededecarvalho

Newsletter: What is the origin of the MiNE Project and what does it consist of?

Professor Mamede de Carvalho: The MiNE project stems from the initiative of a young patient with amyotrophic lateral sclerosis, a Dutch entrepreneur (Bernard Muller). He realized that there was a large set of DNA samples in a centre in his country that were not going to be specifically used. He thus idealized the realization of a genomic study using these samples and many other coming from several other centres, originally European, but now worldwide. Through this process, he anticipated the identification of mutations, polymorphisms and other genetic signatures that could contribute decisively to understanding the etio-pathogenesis of the disease. This project has already begun and has obtained robust results that confirm this patient’s worthy idea.

The financial resources have been obtained through several initiatives, of which the one that attracted media attention the most was the “ice bucket challenge”. These funds are managed by the Patients’ Association of various countries, which, when appropriate, make these funds available to cover the costs inherent to the project, paying for the study of the samples of each centre (16 countries already involved).

Newsletter: What is the participation of FMUL ‘s Institute of Physiology in this project? How did the process proceed, what stages did it go through and at what stage it is now?

Professor Mamede de Carvalho: This project truly reflects the effectiveness of the interaction between the civil society (represented by the Patients’ Association), the assistant neurologists and the researchers. Our role replicates this triple action, bringing together the effort of the Institute of Physiology of the Faculty of Medicine (in the management of the samples and preparing them for the analysis. I take the opportunity to thank technician Ana Laborinho-Pronto of our Institute), the Neuromuscular Unit of the CHLN-HSM (monitoring the patients under my direct supervision) and the IMM (in the scientific interaction with international research groups involved in the process, with the help of my colleague Dr Marta Gromicho Silva).

As a result of this interaction our centre sent samples of patients and controls from Portugal. Other centres have already done so in countries where fundraising has been most effective. Others are still waiting for the opportunity to contribute. However, some results from this huge project have already been published, such as the identification of new genes, in particular C21orf2 and NEK1

 

Newsletter: How can people diagnosed with Amyotrophic Lateral Sclerosis [ALS] participate in this project?

Professor Mamede de Carvalho: There are two forms of participation. One is financial support in the form of giving an amount (see https://www.projectmine.com/it/country/portugal/) or by organizing events where more funds can be raised. The second concerns the donation of blood for DNA extraction.

Newsletter: What support is there at national level for the creation and execution of scientific projects committed to finding the necessary tools to identify pre and post symptomatic neurodegenerative diseases?

Professor Mamede de Carvalho:  The sources of financing in Portugal are few and not varied, especially regarding the poor participation of civil society, particularly the apathy of companies and philanthropists regarding these matters. It is common in other countries for better-off patients and families to fund projects or researchers. This situation is almost non-existent in our country. On the other hand, I find that the more clinical projects are not valued as relevant by some funders. Neurodegenerative diseases are the ones that will persist as immutable in the Western world, when intervention in vascular risk factors is more effective. Unless there is strong research and investment in this area, their economic impact could be devastating for the more developed countries in the future.

 

Raquel Moreira
Editorial Team
news@medicina.ulisboa.pt

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Index – News # 63 | nov/dez. 2016
 2016, year of unlikely successes?
 FMUL/CAML and APELA involved in collecting DNA samples
 Professor Óscar Dias receives the 2016 Pedagogical Merit Award
 Professor Fausto Pinto is the new director of the Department of Heart and Vessels of the Northern Lisbon Hospital Centre (CHLN)/Santa Maria Hospital
 Professor Luís Mendes Pedro is the new director of the Vascular Surgery Service of the CHLN
 Launch of the First Issue of the ULISBOA Magazine
 Professor Mamede de Carvalho, Director of the Institute of Physiology of FMUL, receives the Forbes Norris Award
 Gabinete de Inovação e Empreendedorismo na FMUL
 Healthy Employment Project promotes well-being in times of crisis
 FMUL welcomes Professor Jorge Alberto Costa e Silva, Full Member of the National Academy of Medicine of Brazil
 European Day of Healthy Food and Cooking at the FMUL
 Faculdade de Ajudar – Agradecimento
 Professor José Fernandes e Fernandes to Just News: “Being able to improve the quality of life of patients appealed to me.”
 Open Access International Week 2016
 Plagiarism checker software presented at FMUL
 First Solidarity Fair at the Faculty of Medicine
 Scientific publications (FMUL/HSM/IMM) – November 2016
 Signing of a Collaboration Protocol between the FMUL and Hospital Professor Fernando da Fonseca, E.P.E
 Notícias do Pedagógico NOV|DEZ
 Exhibition at the AEFML “Against the Current. Refugees and the World”
 Letter to a Friend. Professor Henrique Bicha Castelo
 Mensagem ao Professor João Lobo Antunes. Professor António José Gonçalves Ferreira
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100 AnosPropriedade e Edição: Faculdade de Medicina da Universidade de Lisboa NIPC: 502662875  Periodicidade: Mensal  Diretor: Prof. Doutor Fausto J. Pinto Conselho Editorial: Prof. Doutor Fausto J. Pinto, Profª. Doutora Ana Sebastião, Prof. Doutor Mamede de Carvalho, Prof. Doutor António Vaz Carneiro, Prof. Doutor Miguel Castanho, Dr. Luís Pereira  Equipa Editorial:  Ana Raquel Moreira, Cristina Bastos, Isabel Varela, Joana Sousa, Maria de Lurdes Barata, Rui Gomes, Sónia Teixeira  Colaboração:  Gabinete de Relações Públicas, Internacionais e Comunicação  Versão Inglesa: AP|PORTUGAL- Language Services  Conceção: Metatexto, Lda. e-mail: news@medicina.ulisboa.pt  Sede do Editor e Sede da Redação: Avenida Prof. Egas Moniz, 1649-028 Lisboa Estatuto Editorial Anotado na ERC 

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