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About us - professionals

We are researchers in the field of neuromuscular disorders who investigate, at the clinical and research level, on glycogen storage disease type V (GSD V) (OMIM® number 232600), also known as McArdle Disease and other related ultra-rare muscle glycogenoses. We represent twenty institutes from across Europe, plus Turkey and the US, which make up the founding consortium of EUROMAC.



 

1)    Association for Glycogen Storage Disease (UK)

Andrew-Wakelin  

Andrew Wakelin

Adress: AGSD-UK 1st floor, Black Country House Rounds Green Road Oldbury West Midlands B69 2DG, United Kingdom

E-mail: type5@agsd.org.uk

 
Biosketch

Andrew was diagnosed with McArdle disease in 1980. He recalls symptoms from age 4, but at 16 after four misdiagnoses he gave up seeking answers. Then at age 30, a rheumatologist investigating his gout listened to his history, did a CK test and referred him to a neurologist. He had a muscle biopsy and at last there was a diagnosis. 20 years later it was confirmed by genetic testing.

Andrew discovered the McArdle Clinic in 1999, then operating three afternoons per year. He began to assist other patients and in 2004 he took on the voluntary role of AGSD-UK McArdle’s coordinator. He began analysing what he had done and how he managed – culminating in the “101 Tips” book, the “Medical Overview” booklet and other advice to patients. He has developed practical residential courses which have been attended by people from 17 countries. He has met over 500 McArdle people and has assisted patients, doctors and researchers around the world to better understand the condition.

A graphic designer by training, Andrew ran his own design company for 25 years, then a software development company. He has served as a trustee and chairman in local, national and international non-profit organisations, including AGSD-UK. 

In 2012 Andrew became a patient representative and board member on Euromac, with responsibility for the dissemination work package. He is a co-founder of the International Association for Muscle Glycogen Storage Disease.

     

2)    Institute of Neurology, National Hospital for Neurology and Neurosurgery Queen Square, London (UK)

Ros-Quinlivan  

Ros Quinlivan (BSc. Hons, MBBS, M.D.)

Adress: MRC Centre for Neuromuscular Disease, UCL Institute of Neurology, National Hospital 8-11 Queen Square London WC1 3BG, United Kingdom

E-mail: r.quinlivan@ucl.ac.uk

     

Current position:

-Professor of Neuromuscular Disease

-Clinical Lead for the Highly Specialized Service for McArdle Disease and Related Disorders

Publications

Author of 174 Journal Articles, 1 book, 7 book Chapters and 84 conference presentations

Other Roles

-Chair of The British Myology Society

-Chair of The UK Adult North Star Network

-Joint Co-ordinating Editor Cochrane Neuromuscular Disease Group

-Editorial Board Member Neuromuscular Disorders

     

3)    Istituto di Ricovero e Cura a Carattere Scientifico Eugenio Medea Associazione (Italy)

 Andrea-Martinuzzi

 

Andrea Martinuzzi M.D, Ph.D.

Adress: Department of Neurorehabilitation, "E. Medea" Scientific Institute, Conegliano Research Centre, Via Costa Alta, 37 21015 Conegliano, Italy

E-mail: andrea.martinuzzi@lanostrafamiglia.it

     

Current position/s:

- Director of Neurology, "E.Medea" Scientific Institute, Conegliano Research Centre

- Director of the Research Branch of the Italian WHO-FIC Collaborating Centre

- Professor of Neurology, School of Medicine, University of Padova

- Professor of neuropharmachology, hospital pharmacy program, University of Padova

Publications:

Author of 190 full papers, n° citations: 6973, H index: 46, i10 index:  95.

Research:

-Clinical trials in rare neuromuscular diseases with special emphasis on muscle glycogenoses

-Collaboration with WHO in the field test of the International Classification of Functioning,

-Animal modelling for neurodegenerative diseases,

-Neuro-rehabilitation of congenital and genetic neurological diseases, with special attention to defects of glycolysis and mitochondrial cytopathies.

     
Gianluigi-Reni  

Gianluigi Reni

Adress: Applied Technologies Research Area of IRCCS Medea, Via Costa Alta, 37 21015 Conegliano, Italy

Email: gianluigi.reni@gmail.com

     

Biosketch

Electronic Engineer. He is Head of the Applied Technologies Research Area of IRCCS Medea. His role includes technical supervision and coordination of his multidisciplinary team made up by engineers, psychologists and physiotherapists. He is involved in the development and testing of new technical solutions mainly for clinical, pedagogical and psychological applications. He has experience in the study of human-machine interfaces and expertise in database development. He has been involved as principal investigator or unit team leader in many research projects granted by the Italian Ministry of Health, European Commission and private foundations. He was the technical architect of the EUROMAC registry. He authored and coauthored many publications and patents. He was consultant at a Patent and Trademark Office and at the local Court.
     

4)    University of Messina (Messina, Italy)

Antonio-Toscano  

Antonio Toscano M.D, PhD 

Adress: AOU Policlinico G. Martino, Department of Clinical and Experimental Medicine, Neurology and Neuromuscular Disorders Unit, Via Consolare Valeria 1 98125 Messina, Italy

E-mail: antonio.toscano@unime.it

     

Current position:

-Full professor of Neurology, University of Messina, AOU Policlinico G. Martino

-Dean of the faculty of Medicine of the University of Messina

Publications

Author of more than 250 papers in international and peer reviewed journals.

Research

Research activity has been mainly developed in neurogenetic diseases with specific reference to neuromuscular and neurodegenerative disorders.

Other roles

-Member of the World Pompe Global Advisory Board

-Member of the TREAT-NMD Task force

-Honorary Advisory Board Member of SOLANE (Sociedad Latino-Americana Enfermedades Neuromusculares)

-Member of the Scientific Committee of the EAN (European Academy of Neurology)

-Member of the SIN (Italian Neurological Society)

-Member of the EAN Programme Committee 

     
 Olimpia-Musumeci  

Olimpia Musumeci M.D, Ph.D.

Adress: AOU Policlinico G. Martino, UOC di Neurologia e Malattie Neuromuscolari, PAD E 2 piano, Via Consolare Valeria 1 98125 Messina, Italy

E-mail: olimpia.musumeci@unime.it

     

Current position:

-Medical doctor, specialist in Neurology, Unit of Neurology and Neuromuscular Diseases, AOU Policlinico di Messina. Expert in myopathology, clinical and diagnostic procedures in neuromuscular disorders. Responsible of the in-and out-patients and DH activity for adult patients affected by rare neuromuscular disorders.

-Assistant professor of Neurology MED/26 University of Messina

Publications

Author of about 130 papers in international and peer reviewed journals.

Research

Research activities are focused on neuromuscular diseases with participation to several national and international projects and to different clinical trials on metabolic myopathies, mitochondrial disorders and other neurogenetic disorders as hereditary spastic paraplegia and ataxias.

Other roles

Member of the Scientific Committee of Mitocon (Italian Association of Mitocondrial disorders) and AISA (Italian Association of Ataxias)

Member of the ERN-NMD: section genetics, mitochondrial disorders, muscle disorder.

     

5)    Institut de Myologie - Hôpital Pitié-Salpêtrière Bâtiment Babinski (París, France)

Pascal-Laforet  

Pascal Laforet M.D, Ph.D

Adress: Unité clinique de pathologie neuromusculaire, Institut de Myologie - Hôpital Pitié-Salpêtrière Bâtiment Babinski - 47-83 Boulevard de l'Hôpital 75013 PARIS FRANCE

E-mail: pascal.laforet@aphp.fr

     

Biosketch:

Pascal Laforêt, MD, PhD, is a professor of Neurology at the Versailles-Saint Quentin University, consultant specialized in neuromuscular disorders (myasthenia gravis, muscular dystrophies, and metabolic myopathies) in the Neurology department of Raymond-Poincaré hospital, and coordinator of North/East/Ile de France neuromuscular center and FHU Phenix dedicated to translational research in neuromuscular disorders. He is affiliated to U1179 INSERM-UVSQ laboratory, dedicated to biotherapies of neuromuscular system diseases. Major focus of his research activities are metabolic myopathies (pathophysiology and clinical trials), and he coordinates the French registries for mitochondrial disorders, glycogenosis type III, and Pompe disease. He is a member of the French Myology Society (SFM), French Society of Inherited Metabolic Disorders (SFEIM), and boards of the French Glycogenosis Association (AFG) and Garches Fundation.

     

6) Rigshospitalet, University of Copenhagen (Copenhagen, Denmark)

John-Vissing  

John Vissing M.D, Ph.D. 

Adress: Copenhagen Neuromuscular Center, section 8077, Inge Lehmanns Vej 8, DK-2100 Copenhagen

E-mail: john.vissing@regionh.dk

     

Current position/s:

-Consultant neurologist at Rigshospitalet, Copenhagen

-Director of the Copenhagen Neuromuscular Center and Neuromuscular Clinic, since 2000 (42 employees).

-Lecturer and associate professor of neurology at the University of Copenhagen.

-Professor of Neurology, University of Copenhagen, Denmark.

Publications:

- Author of 403 scientific articles (369 peer-reviewed on PubMed). H-index 59 (Google Scholar), number of citations, 12,657; peer-reviewed first authorships; 49, and senior authorships; 222

Research and administrative activities:

-Member of the editorial board of Neuromuscular Disorders, Acta Neurol. Scand. and J. Neuromuscular Diseases

-Reviewer for more than 50 scientific journals and foundations.

-Research Director for the National University Hospital, Rigshospitalet, 2009-2014.

-Vice-chair on the IRB for the Capital Region 2010-2012.

-Member of the executive and program committees of the World Muscle Society 2016-now.

-Host and organizer for Steps Forward Meeting on Pompe disease in Copenhagen 2018 (300 participants) and 2019 World Muscle Society Meeting in Copenhagen (1000 participants)

-Board member on the Valdemar Becks and wife’s research foundation for muscle disease.

-Supervisor for 23 completed, and 7 current PhD students and 31 scholarship students and opponent at 21 PhDs.

-Served on more than 30 different advisory boards for the Pharma Industry.
     

7)    Institut de Recerca Vall d’Hebron (Barcelona, Spain)

Ramon-Martí  

Ramon Martí (Ph.D, Chemist)

Adress: Institut de Recerca Vall d’Hebron (Ed. Mediterrània) 1ª Planta Lab 104

Ps. Vall d’Hebron 119-129 08035, Barcelona, Spain

Email: ramon.marti@vhir.org

     

Current position:

Head of Research Group on Neuromuscular and Mitochondrial Diseases

Publications:

102 Journal Articles

h-index = 30

Other Roles

-Member of the Biomedical Network Research Centre on Rare Diseases (CIBERER).

-Member of The Purine and Pyrimidine Society

     

8)    EATRIS, the European Advanced Infrastructure for Translational Research.

Toni-Andreu  

Toni Andreu M.D, Ph.D

Adress: EATRIS ERIC, De Boelelaan 1118, 1081 HZ Amsterdam, The Netherlands

Email: toniandreu@eatris.eu

     

Biosketch:

Toni is an M.D. Ph.D specialized in genetics and genomics of rare diseases. He has been working in the field of neuromuscular disorders from the translational perspective of the pipeline, from basic science to the development of cell and animal models and clinical research.

After working in Columbia University in New York on mitochondrial disorders from 1998 to 2001, he moved to Barcelona to create the Neuromuscular Lab at the Vall d’Hebron Research Institute where he became Director of the Neurosciences Research Program.

He has also been extremely active in the field of policy-making and held positions as the Director of the Spanish National Institute of Health Carlos III, creating the national program for personalized medicine. He has also been the CEO of the Bellvitge Hospital, one of the most important University hospitals in Spain, as well as the Director General for Research and Innovation at the Catalan Ministry of Health.

Toni is now the Scientific Director at EATRIS, the European Advanced Infrastructure for Translational 

     

9)    Universidad Europea de Madrid (Villaviciosa de Odón, Madrid, Spain)

Alejandro-Lucia  

Alejandro Lucía M.D, Ph.D. 

Adress: Department of Research and Doctorate Studies, Universidad Europea de Madrid, Calle Tajo, s/n, 28670 Villaviciosa de Odón, Madrid (Spain)

Email: alejandro.lucia@universidadeuropea.es

     

Biosketch:

Professor in Exercise Physiology and Senior Researcher. My main research focus is to build scientific evidence on the therapeutic effects of physical exercise against major chronic diseases. Over my career, I have shown tailored exercise prescription to represent a safe, effective coadjuvant therapy for improving the health status of patients with numerous diseases, and led innovative inhospital exercise trials. My approach to medical research is holistic and multidisciplinary.

I have supervised 15 doctoral theses.

I have published >600 peer-reviewed papers in JCR journals indexed in PubMed

Publications: (Scopus).

H-index = 63 (H-index in WoS = 61).17 256 citations in total.

Total number of publications in first quartile (Q1) journals >300.

ResearchGate

Institutional responsibilities:

Coordinator of the PhD program in Physical Activity and Sports, Universidad Europea de Madrid.
     

10)    Hospital 12 de Octubre (Madrid, Spain)

Miguel-Angel  

Miguel Angel Martín M.D, Ph.D

Address: Instituto de Investigación Hospital 12 de Octubre, Centro de Actividades Ambulatorias, 6ª Planta Bloque D, Avda. de Córdoba, s/n, 28041 – MADRID

Email: mamcasanueva.imas12@h12o.es

     

Biosketch:

I am Associated Consultant in Clinical Biochemistry, working at Biochemistry and Clinical and Genetics Departments of the '12 de Octubre' University Hospital, Madrid (Spain). I am a member of AEGH (Spanish Association for Human Genetics), and SEQC-ML (Spanish Society of Clinical Chemistry, and Laboratory Medicine).  We received a Master degree in Pharmaceutical Sciences in 1998, a Clinical Biochemistry specialization degree in 1993, and got a PhD in Biochemistry and Molecular Biology in 2001. I received an MBA in Biotechnology in 2007.

My research lines are focused on the study of the biochemical and molecular genetic basis of the mitochondrial OXPHOS diseases, metabolic myopathies and exercise intolerance disorders (particularly, McArdle disease). I am in charge of the Mitochondrial and Neuromuscular Diseases group at the ‘12 de Octubre’ Hospital Health Research Institute (i+12), a multidisciplinary group consisted of clinicians, biochemists, geneticists and molecular biologists.

I have participated as co-author in 201 indexed publications (Web of Science-Thompson), with an h-index of 39 (total cites 4749; mean cites per article 24.2). For more details, you can visit ORCID number 0000-0003-4741-772X.

I have supervised 7 doctoral theses and tutored several PhD students, as well as several post-doc researchers. Our research group belongs to the Spanish Network, CIBER for Rare Diseases (ISCIII). Our group belongs to Spanish National Reference Units (CSURs) of Metabolic Hereditary Disorders, and Neuromuscular disorders as well as to the European Reference Network Metab-ERN.

     

11)    Galicia Sur Health Research Institute – IISGS (Vigo, Spain)

Irene-Vieitez  

Irene Vieitez Gonzalez Ph.D

Address: Hospital Álvaro Cunqueiro, Instituto de Investigación IISGS, Bloque Técnico - Planta 2 - Zona A Estrada Clara Campoamor nº 341, 36213 Vigo (Spain)

Email: Irene.Vieitez.Gonzalez@sergas.es

     

Current position/s:

-Postdoctoral researcher of the Rare diseases & Pediatric Medicine Group at the Galicia Sur Health Research Institute – IISGS (since 2014).

-Head of the Genomic Unit at the IISGS (since 2015).

-Member of the Independent Clinical Research Unit at the IISGS integrated in the Spanish Clinical Research Network – SCReN (since 2021).

-Head of the DNA Bank of the University Hospital of Vigo Biobank integrated in   the Spanish Biobank Network Platform (since 2010).

Biosketch:

Irene Vieitez graduated in Biological Science from the Santiago de Compostela University (2003), and obtained the PhD in Biochemistry and Molecular Biology (2009) with the maximum qualification by the same University. She has been a visiting researcher in centres such as the Biomedicine Institute of Valencia (Spanish Research Council, CSIC) or the Genetics Laboratory of Santa Creu i Sant Pau Hospital in Barcelona. During her scientific career, she has acquired a wide background in molecular biology techniques, and a broad knowledge about rare diseases, mainly neuromuscular disorders, amyloidosis, lysosomal storage diseases, and prionopathies. Her research lines led to the identification and characterization of more than twenty genetic variants and the development and optimization of molecular protocols for the analysis of over 50 genes associated with these diseases. Currently, she is also in charge of the Genomic Unit at the Galicia Sur Health Research Institute (IISGS) where she is researching, developing and advising on both classical techniques and cutting-edge and emerging technologies in genomics and molecular biology. She also gives scientific support to clinicians about the genetic and molecular aspects of rare diseases. To date, she published 14 articles, 2 book charpters and reported 22 novel pathological mutations in Human Genetics and Neuromuscular Disorders.

     

12)    Radboud University Medical Center (Nijmegen, Netherlands)

Nicol-Voermans  

Nicol Voermans M.D., Ph.D

Address: Radboudumc main entrance, Geert Grooteplein Zuid 10 6525 GA Nijmegen (Netherlands)

Email: nicol.voermans@radboudumc.nl

     

Current position/s:

-Associate Professor (since 2020)

-Junior Principal Investigator (since 2018)

-Neurologist (since 2000)

-Member of the Neuromuscular Center the Netherlands (since 2000)

-Member of the subsidiary board of the St Thomas More foundation (since 2018)

-Member of the subsidiary board of the St Thomas More foundation (since 2018)

 

13)    Istanbul Faculty of Medicine, Department of Neurology (Istanbul, Turkey)

Hacer-Durmus  

Hacer Durmus M.D

Address: Department of Neurology, Istanbul Faculty of Medicine, Istanbul University İstanbul Tıp Fakültesi Çapa – Fatih, İstanbul (Turkey)

Email: durmushacer@yahoo.com

     

Biosketch:

Hacer Durmus graduated from the Faculty of Medicine, Hacettepe University, Ankara, Turkey in 2006. She was a resident in the Department of Neurology between 2006 and 2011 at Istanbul Faculty of Medicine, Turkey. Dr Durmus was a research fellow at Institute of Human Genetics, Newcastle University, UK in 2009. In 2012, she returned to the Department of Neurology, Istanbul Faculty of Medicine, where she is currently based. Dr Durmus became an Associate Professor in 2015 and a Professor in 2020 at the Istanbul Faculty of Medicine, Istanbul, Turkey. She is a fellow of the European Board of the Neurology. Dr Durmus’s interest in neurology has centred on neuromuscular diseases, especially in rare genetic disorders. Dr Durmus is author of 74 scientific articles (56 peer-reviewed on PubMed). H-index 14 (Web of science), number of citations, 635.

     

 


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