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Laboratory of International Relations Office of Rare Diseases

At the international level, the commitment of the Institute in the field of rare diseases and orphan drugs has remained constant over the years, as evidenced by the organization of high level meetings, starting with the first "International Symposium on rare diseases and orphan drugs" (Lancet 1994 343:8912 , 1560-1561), from participation in numerous projects on rare diseases, the recognition in 2000 as the "Postgraduate training on rare diseases" by the European Commission (Contract No. QLK4 - 1999-50547), the partecipation in first Rare Disease Task Force working group.

The Laboratory of International Relations Office of Rare Diseases was created as an evolution of the previous laboratory dedicated to information on rare diseases and represents the needs to the international dimension, especially in Europe, of our initiatives on rare diseases.

 

Research Report 2017

 

Selected publications

  • Code: 16140
    Cavazza M, Kodra Y, Armeni P, De Santis M, Lopez-Bastida J, Linertova R, Oliva-Moreno J, Serrano-Aguilar P, Posada-de-la-Paz M, Taruscio D, Schieppati A, Iskrov G, Pentek M, Von der Schulenburg J-M G, Kanavos P, Chevreul K, Persson U, Fattore G, BURQOL-RD Research Network
    Social/economic costs and health-related quality of life in patients with Duchenne muscular dystrophy in Europe
    Eur J Health Econ 2016; 17 Suppl 1: S19-S29
    IF: 2.5
    Status: Published
    PubMed icon
  • Code: 15544
    Luzzatto L, Hollak C E M, Cox T M, Schieppati A, Licht C, Kaariainen H, Merlini G, Schaefer F, Simoens S, Pani L, Garattini S, Remuzzi G
    Rare diseases and effective treatments: are we delivering?
    Lancet 2015; 385: 750-752
    IF: 44.002
    Status: Published
    PubMed icon
  • Code: 14950
    Linertova R, Serrano-Aguilar P, Posada-de-la-Paz M, Hens-Pérez M, Kanavos P, Taruscio D, Schieppati A, Stefanov R, Péntek M, Delgado C, Von der Schulenburg J-M G, Persson U, Chevreul K, Fattore G, Worbes-Cerezo M, Sefton M, Lopez-Bastida J, BURQOL-RD Research Group
    Delphi approach to select rare diseases for a European representative survey. The BURQOL-RD study
    Health Policy 2012; 108: 19-26
    IF: 1.55
    Status: Published
    PubMed icon
  • Code: 14949
    Gluud C, Kubiak C, Whitfield K, Byrne J, Huemer K, Thirstrup S, Libersa C, Barraud B, Grahlert X, Dreier G, Geismann S, Kuchinke W, Temesvari Z, Blasko G, Kardos G, O'Brien T, Cooney M, Gaynor S, Schieppati A, de Andres F, Sanz N, Kreis G, Asker-Hagelberg C, Johansson H, Bourne S, Asghar A, Husson J, Demotes-Mainard J
    Typical investigational medicinal products follow relatively uniform regulations in 10 European Clinical Research Infrastructures Network (ECRIN) countries
    Trials 2012; 13: 27
    IF: 2.206
    Status: Published
    PubMed icon
  • Code: 13142
    Schieppati A, Henter J, Daina E, Aperia A
    Why rare diseases are an important medical and social issue
    Lancet 2008; 371: 2039-2041
    IF: 28.409
    Status: Published
    PubMed icon