On one hand, some neurological disorders, like Huntington’s disease are pure hereditary disorders, on the other hand, consideration on genetics and metabolic aspects are increasingly relevant for and need to be included in the study of diseases in all subspecialised fields of neurology.
The aims of the Subspecialty Scientific Panel on Neurogenetics are therefore to provide practical understanding of neurological diseases due to hereditary or metabolic disorders and also to increase knowledge of paradigms and methods used in the study of genetic and metabolic aspects of neurological disorders.
Activities
- Development of guidelines on the use of genetic diagnostic tests in neurological disorders (present projects include Wilson’s disease, neurocutaneous disorders, genetic counselling).
- Teaching courses on the evolving methodology and techniques used in the study of genetic and metabolic disorders.
- Focused Workshops and Symposia on genetic and metabolic disorders.
- Development of good genetic practice in the care of patients with neurological disorders harmonised among European countries.
- Harmonisation of genetic testing, use of novel technologies, glossary of technical items relevant for neurological practice.
- Common activities with other Subspecialty Scientific Panels.
- Networking with scholarly associations and lay organisations involved in genetic and metabolic disorders.
Individual panel members
Aledo-Serrano, Angel
Madrid,
Spain
Angelini, Corrado
Padova,
Italy
Breza, Marianthi
Athens,
Greece
Dichgans, Martin
Munich,
Germany
Filla, Alessandro
Naples,
Italy
Filosto, Massimiliano
Brescia,
Italy
Finsterer, Josef
Vienna,
Austria
Graessner, Holm
Tübingen,
Germany
Gutowski, Nicholas J.
Exeter,
United Kingdom
Houlden, Henry
London,
United Kingdom
Klopstock, Thomas
München,
Germany
Köhler, Wolfgang
Leipzig,
Germany
Kornblum, Cornelia
Bonn,
Germany
Koutsis, Georgios
Athens,
Greece
La Morgia, Chiara
Bologna,
Italy
Mancuso, Michelangelo
Pisa,
Italy
Montagnese, Federica
Munich,
Germany
Neves Damas, Catarina
Torres Vedras,
Portugal
Ng, Yi Shiau
Newcastle upon Tyne,
United Kingdom
Paprocka, Justyna
Katowice,
Poland
Pareyson, Davide
Milan,
Italy
Percetti, Marco
Monza,
Italy
Primiano, Guido
Rome,
Italy
Ringelstein, E. Bernd
Münster,
Germany
Salsano, Ettore
Milano,
Italy
Serranova, Tereza
Praha 2,
Czech Republic
Steck, Andreas
Evolène,
Switzerland
Ticozzi, Nicola
Milan,
Italy
Toscano, Antonio
Messina,
Italy
Zedde, Marialuisa
Reggio Emilia,
Italy
RRFS Member
Abed, Elsayed
Cairo,
Egypt
Antunes Cunha, Ines
Coimbra,
Portugal
Arca, Vitor
Recife,
Brazil
Belli, Elisabetta
Pisa,
Italy
Cabreira, Verónica
EDINBURGH,
United Kingdom
Carvalho, Vanessa
LISBOA,
Portugal
Catania, Cecilia
Genève,
Switzerland
Di Rauso, Giulia
Reggio Emilia,
Italy
Dobri-Nicoara, Ana Maria
Bucuresti,
Romania
Durães, João
Coimbra,
Portugal
Evdokimov, Konstantin
Moscow,
Russian Federation
Falcicchio, Giovanni
Bari,
Italy
Falcone, Grazia Maria Igea
Messina,
Italy
Imarisio, Alberto
Pavia,
Italy
Iruzubieta, Pablo
San Sebastian,
Spain
Isayan, Mariam
Yerevan,
Armenia
Kaya Gülec, Zeynep Ece
Istanbul,
Turkey
Laterza, Vincenzo
Altamura,
Italy
Lopergolo, Diego
Siena,
Italy
Magrinelli, Francesca
London,
United Kingdom
Malikova, Shahla
Baku,
Azerbaijan
Malvaso, Antonio
Pavia,
Italy
Manini, Arianna
Milan,
Italy
Mazzeo, Adolfo
Rome,
Italy
Morato Martín, Nicolás
Madrid,
Spain
Mroczek, Magdalena
Basel,
Switzerland
Nagy, Zsófia Flóra
Budapest,
Hungary
Olszewska, Diana Angelika
Cork,
Ireland
Pimenta Silva, Daniela
Lisbon,
Portugal
Pinna, Francesca
Osilo,
Italy
Rifino, Nicola
Milan,
Italy
Torri, Francesca
Pisa,
Italy
Vanagas, Tadas
Kaunas,
Lithuania
Student Member
Abhinav, Abhinav
Ivano Frankivsk,
Ukraine
Alecu, Julian Emanuel
Nuremberg,
Germany
Coşkun, Ece
Izmir,
Turkey
Duarte, Alexia
Curitiba,
Brazil
Felkle, Dominik
Wrocław,
Poland
Salkovic, Naida
Tuzla,
Bosnia and Herzegovina
Partner Society Representatives
AOAN Representative
Tan, Eng-King
Singapore
EPNS representative
Bahi-Buisson, Nadia
Paris,
France
Patient Representative
Patient representative
De Schepper, Bea
Belgium
Institutional panel members
Anheim, Mathieu
STRASBOURG,
France
Badea, Raluca Stefania
Bucuresti,
Romania
Balint, Bettina
Bebek, Nerses
Istanbul,
Turkey
Boesch, Sylvia
Innsbruck,
Austria
Borovecki, Fran
Zagreb,
Croatia
Damásio, Joana
Porto,
Portugal
Dardiotis, Efthimios
Larissa,
Greece
Durmuş Tekçe, Hacer
Istanbul - Capa,
Turkey
Gasser, Thomas
Tübingen,
Germany
Glāzere, Ieva
Riga,
Latvia
Grigaitė, Julija
Vilnius,
Lithuania
Hendrickx Van De Craen, Elisabeth
Antwerpen,
Belgium
Illarioshkin, Sergei N.
Moscow,
Russian Federation
Jecmenica Lukic, Milica
Belgrade,
Serbia
Jędrzejowska, Maria
Warszawa,
Poland
Jokela, Manu
Turku,
Finland
Kaladyte Lokominiene, Ruta
Vilnius,
Lithuania
Kleopa, Kleopas
Nicosia,
Cyprus
Kostic, Vladimir S.
Belgrade,
Serbia
Krenn, Martin
Vienna,
Austria
Lossos, Alexander
Jerusalem,
Israel
Mancuso, Michelangelo
Pisa,
Italy
Martins, Joana
Porto,
Portugal
Miglane, Evija
Riga,
Latvia
Mihaylova, Violeta M.
Sofia,
Bulgaria
Milanowski, Lukasz
Warsaw,
Poland
Molnar, Maria Judit
Budapest,
Hungary
Morris, Huw
London,
United Kingdom
Necpal, Jan
Zvolen,
Slovakia
Ostrožovičová, Miriama
Kosice,
Slovakia
Peterlin, Borut
Ljubljana,
Slovenia
Pleshko, Inessa V.
Minsk,
Belarus
Pozzi, Federico Emanuele
Monza,
Italy
Ribigan, Athena
Bucharest,
Romania
Rot, Uroš
Ljubljana,
Slovenia
Sacara, Victoria
Chisinau,
Moldova
Sobrido Gómez, María Jesús
Sprincean, Mariana
Chisinau,
Moldova
Tournev, Ivailo
Sofia,
Bulgaria
Tzoulis, Charalampos
Bergen,
Norway
Vinther-Jensen, Tua
Copenhagen,
Denmark
Vyhnalek, Martin
Prague,
Czech Republic
Xiromerisiou, Georgia
Larissa,
Greece
Zech, Michael
Munich,
Germany