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: Stavit Allon-Shalev, Umut Altunoglu, Dina Amrom, Eleonora Aronica, Nadia Bahi-Buisson, Jim Barkovich, Bruria Ben Zeev, Magdalena Budisteanu, Ivan Capo, Julie Desir, Nataliya DiDonato, Yolaine Dupont Christina Engel Hoei-Hansen, David Gomez Andres, Tobias Geis, Sabine Groenborg, Renzo Guerrini, Ute Hehr, Anna Jansen, Hülya Kaiserili, Karina Krajden Haratz, Tally Lerman-Sagie, Grazia Mancini, Marije Meuwissen, Renske Oegema, Daniela Pilz,Jane Proepper, Romina Romaniello, Edith Said,Pedro Serrano-Castro, Maha Zaki
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