The international consortium of researchers connected to the patient-driven Project MinE has identified a new ALS gene, named C21orf2. In […]
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100 Prozent aller Spenden für das Projekt Mine werden direkt für die Analyse und Kartierung von DNA-Profilen verwendet.
The ALS Centre in Lisbon is located in the Medical Academic Lisbon Centre joining the Faculty of Medicine and the Instituto de Medicina Molecular (IMM) – University of Lisbon (UMC) and the Centro Hospitalar Lisboa Norte – Hospital de Santa Maria. The goals of the ALS Centre in Lisbon are to improve the diagnosis of ALS, to provide a close high quality care and treatment, and foster research in ALS, in particular regarding signals of motor neuron dysfunction and respiratory support. The centre is headed by Professor Mamede de Carvalho and works in collaboration with several ALS centres throughout Europe and the rest of the world.
APELA is the Portuguese ALS Association. It is a private non-profit membership organization that provides information and support for ALS patients alongside fighting for improved health services and research.
The ALS Centre in Lisbon and APELA are partners in Project MinE. Together they aim to analyse 400 DNA samples for Portugal.
Project MinE research in Portugal is performed at the ALS Centre, Medical Academic Lisbon Centre.
gmiltenyi@medicina.ulisboa.pt or +(351) 217999435
Mamede de Carvalho is a medical doctor specialized in Neurology and Neurophysiology, with the highest degree (“Chefe de Serviço”) and working in the Neuroscience Department of the main University Hospital in Lisbon. Since 2010 he is full Professor of Physiology at the Faculty of Medicine in Lisbon. He is the head of the Neuromuscular Unit of his Hospital and of a research unit in the Instituto de Medicina Molecular. He is involved in investigating Amyotrophic Lateral Sclerosis, Familial Amyloid Polyneuropathy, Neurophysiology of the Respiratory Muscles, Exercise Training in ALS, Skin biopsy, Magnetic Stimulation and Laser Evoked Potentials. He has more than 200 papers published in International journals. He is in the editorial board of 4 international scientific journals.
I am a medical geneticist with 15 years of experience in this field, with main interest of the clinical and molecular characterization of families with neurologic – mainly neurodegenerative, neuromuscular and cognitive – disorders. I teach human genetics at the Faculty of Medicine, University of Lisbon. I am participating as a colleague of Professor Mamede de Carvalho, leading neurologist of Project MinE in Portugal. At the Portuguese site I am responsible for the sample collection, sample storage, genetic analyses and result interpretation.