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University Medical Center Groningen

€50,000 for C6 web portal

27 November 2014
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We are pleased to announce that €50,000 has been granted to a project proposal submitted by Conny van Ravenswaaij, Barbara Frentz, Morris Swertz, and Richard Sinke in collaboration with the Chromosome 6 Facebook group, Unique, Cartagenia and ECARUCA within the framework of eHealth ZonMw for a project entitled:

Phenotype-genotype study into chromosome 6 mutations: using e-health techniques to set up a user-friendly web portal for the collection of data on patients with rare diseases

Chromosome 6 mutations lead to a group of very rare disorders that are often accompanied by congenital problems and developmental delay. Parents and healthcare professionals often do not have sufficient information to provide the best treatment and guidance for children with these disorders.

Parents throughout the world share information via social media. However, there are many different chromosome 6 anomalies and correctly linking the patient information (phenotype) to the exact genetic mutation (genotype) requires creative data analysis. In addition, language barriers hinder the optimal collection of information on international patients.

In this project, the Department of Genetics, University Medical Centre Groningen (UMCG), the Netherlands, will collaborate with the ‘Chromosome 6 Facebook group’, Unique, ECARUCA and Cartagenia to set up a multilingual web portal. The information entered by parents will be language-independent and translated into the phenotype coding system already in use. These codes will then be analysed together with the results from detailed chromosome tests.

In the future, we hope to set up an interactive website where every parent can find information related to their child’s own specific anomaly; first for patients with chromosome 6 anomalies and later for all chromosomal disorders.

See also http://www.rug.nl/research/genetics/research/chromosome_6/

ZonMW project number 40-43000-98-138

Last modified:20 June 2016 4.18 p.m.
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