Literature DB >> 25449139

Building treasures for rare disorders.

Melanie Baas1, Sylvia Huisman1, John van Heukelingen2, Gerritjan Koekkoek3, Henk-Willem Laan4, Raoul C Hennekam5.   

Abstract

The internet pre-eminently marks an era with unprecedented chances for patient care. Especially individuals with rare disorders and their families can benefit. Their handicap of low numbers vanishes and can become a strength, as small, motivated and well-organized international support groups allow easily fruitful collaborations with physicians and researchers. Jointly setting research agendas and building wikipedias has eventually led to building of multi-lingual databases of longitudinal data on physical and behavioural characteristics of individuals with several rare disorders which we call waihonapedias (waihona meaning treasure in Hawaiian). There are hurdles to take, like online security and reliability of diagnoses, but sharing experiences and true collaborations will allow better research and patient care for fewer costs to patients with rare disorders.
Copyright © 2014 Elsevier Masson SAS. All rights reserved.

Entities:  

Keywords:  Innovation; Internet; Rare disorders; Wiki; eHealth

Mesh:

Year:  2014        PMID: 25449139     DOI: 10.1016/j.ejmg.2014.10.006

Source DB:  PubMed          Journal:  Eur J Med Genet        ISSN: 1769-7212            Impact factor:   2.708


  4 in total

Review 1.  Multidisciplinary Management of Costello Syndrome: Current Perspectives.

Authors:  Chiara Leoni; Germana Viscogliosi; Marco Tartaglia; Yoko Aoki; Giuseppe Zampino
Journal:  J Multidiscip Healthc       Date:  2022-06-02

2.  Phenotype and natural history in 101 individuals with Pitt-Hopkins syndrome through an internet questionnaire system.

Authors:  Channa F de Winter; Melanie Baas; Emilia K Bijlsma; John van Heukelingen; Sue Routledge; Raoul C M Hennekam
Journal:  Orphanet J Rare Dis       Date:  2016-04-12       Impact factor: 4.123

3.  Adopting Quality Criteria for Websites Providing Medical Information About Rare Diseases.

Authors:  Frédéric Pauer; Jens Göbel; Holger Storf; Svenja Litzkendorf; Ana Babac; Martin Frank; Verena Lührs; Franziska Schauer; Jörg Schmidtke; Lisa Biehl; Thomas Of Wagner; Frank Ückert; Johann-Matthias Graf von der Schulenburg; Tobias Hartz
Journal:  Interact J Med Res       Date:  2016-08-25

Review 4.  Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement.

Authors:  Antonie D Kline; Joanna F Moss; Angelo Selicorni; Anne-Marie Bisgaard; Matthew A Deardorff; Peter M Gillett; Stacey L Ishman; Lynne M Kerr; Alex V Levin; Paul A Mulder; Feliciano J Ramos; Jolanta Wierzba; Paola Francesca Ajmone; David Axtell; Natalie Blagowidow; Anna Cereda; Antonella Costantino; Valerie Cormier-Daire; David FitzPatrick; Marco Grados; Laura Groves; Whitney Guthrie; Sylvia Huisman; Frank J Kaiser; Gerritjan Koekkoek; Mary Levis; Milena Mariani; Joseph P McCleery; Leonie A Menke; Amy Metrena; Julia O'Connor; Chris Oliver; Juan Pie; Sigrid Piening; Carol J Potter; Ana L Quaglio; Egbert Redeker; David Richman; Claudia Rigamonti; Angell Shi; Zeynep Tümer; Ingrid D C Van Balkom; Raoul C Hennekam
Journal:  Nat Rev Genet       Date:  2018-10       Impact factor: 53.242

  4 in total

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