WILSONINDIA

Novel opportunities for diagnosis and therapy of Wilson’s disease in India

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 Obiettivo del progetto (Objective)

The aim of this proposal is to develop human potential in medical research and technology by joint research efforts. An ongoing research partnership for Wilson’s disease (WD) was chosen by WilsonIndia to improve joined research, knowledge and career opportunities by developing a sustained partnership of EU with India. WilsonIndia targets the highly advanced knowledge of the EU of inherited fatal WD that has recently evolved as a model for establishment of novel research strategies in medicine. The technology involved by WilsonIndia comprises DNA chip-based diagnosis and adult stem cell-based therapy of liver disease. Gained knowledge by WilsonIndia can easily be transferred to other diseases and third countries other than India. The central part of WilsonIndia comprises staff exchange of young and experienced researchers, technicians and members of SME between the EU and India. WilsonIndia attracts experts from various fields (medicine, genetics, physics, biology, SME) and will undertake a joint project to (i) study important characteristics of WD in a world wide international dimension by on-site research visits, (ii) improve and validate state-of-the-art technology for diagnosis and therapy of WD, and (iii) aggravate the transfer of highly advanced knowledge in medical sciences from the EU to other parts of the world which have a dynamic and fast growing market. WilsonIndia targets a sustained collaboration between the EU and India with respect to research and technology transfer. As a result of the proposed activities WilsonIndia expects to broaden the quality of human resources at various career levels including young and experienced researchers and SME, and to multiply ongoing technology transfer between the EU and third countries for further improvement of career development and reciprocal benefits.

Introduzione (Teaser)

Wilson's disease is a genetic disorder and sufferers can require a liver transplant in severe cases. Joint genomic research between the EU and India could well result in improved diagnosis and treatment of the disease.

Descrizione progetto (Article)

Resulting in accumulation of copper in tissues, Wilson's disease is an autosomal recessive disease, due to mutations in one gene. If a child inherits one copy of the faulty gene from each parent, they may develop the condition. One in a hundred people carry the gene.

The 'Novel opportunities for diagnosis and therapy of Wilson's disease in India' (WILSONINDIA) project analysed the different forms of mutation in the Wilson's disease gene, ATP7B. Although some 300 mutations or variants of ATP7B have been identified, Wilson's disease in most populations is caused by a small number of mutations specific to that group of people.

WILSONINDIA researchers analysed the mutational pattern in a large region of western India. Altogether, 34 disease-causing mutations were found, 14 of which were novel variations.

The most frequent mutations were found to be p.C271* and a novel mutation p.E122fs. Study of these frequent mutations alongside disease severity assessments allowed an analysis of genotype with phenotype correlations. Overall, the study revealed that the most frequent mutation across India that results in a moderate to severe disabling phenotype is p.C271*.

Work of the WILSONINDIA project has built sustainable research collaboration between the EU and India. Beneficiaries will be associated small and medium-sized enterprises and both young and experienced researchers who could find their careers elevated. Importantly, the standard of research may also be higher and targeted therapies may emerge.