WG1: Integration, harmonisation and standardisation of clinical phenotyping and medical management.
Little is known of the natural history of MCD and no guidelines for diagnosis and management exist. Even after an intensive diagnostic assessment, the majority of patients remain without a molecular diagnosis. As novel neuroimaging and genomic technologies emerge, the challenge is to translate these to the benefit of the individual patient.
The main aims of WG1 are:
- To introduce standardised nomenclature, which in turn facilitates communication and data sharing among patients, clinicians and scientists.
- To develop guidelines for diagnostic work-up (clinical evaluation, standard genetic investigations, brain imaging) and disease management. We wish to define care standards which are cost-effective for both high- and low-income European countries and to define minimum needs to improve the quality of life of MCD patients requiring life long support and treatment.
Working Group 1 members: Nadia Bahi-Buisson, Renske Oegema, Bruria Ben Zeev, Eleonora Aronica, Edith Said, Anna Jansen, Grazia Mancini, Daniela Pilz, Renzo Guerrini, Sabine Groenborg, Christina Engel Hoei-Hansen , Magdalena Budisteanu, Nataliya DiDonato, Maha Zaki, Nebosja Jovic, Jim Barkovich, Hülya Kaiserili, Umut ALTUNOGLU, Marije Meuwissen, Stavit Allon-Shalev, Pedro Serrano-Castro, Julie Desir, Ivan Capo, Dina Amrom, David Gomez Andres, Romina Romaniello, Ute Hehr, Nina Krajden Haraz, Jane Proepper, Tobias Geis, Tally Lerman-Sagie, Katrin Õunap, Valeria Capra, Stefanie Brock.
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