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

Final Report Summary - WILSONINDIA (Novel opportunities for diagnosis and therapy of Wilson’s disease in India)

The aim of WilsonIndia 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 the consortium WilsonIndia to improve joined research, knowledge and career opportunities to develope a sustained partnership 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 functional characterization of WD mutations, 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 between the EU and India. WilsonIndia has attracted experts from various fields (medicine, genetics, physics, biology, SME) and has undertaken a joint project to (i) study important characteristics of WD in a worldwide 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 activities WilsonIndia expects to broaden the quality of human resources at various career levels including young and experienced researchers, and to multiply ongoing technology transfer between the EU and third countries for further improvement of career development and reciprocal benefits.

WilsonIndia was executed by two European (WWU, HUA) and one Indian partner (KDAH). WWU is one of the leading centers for liver transplantation in Germany. WWU isolates and cultures primary hepatocytes and adult stem cells (MSC) and evaluates cell functions in cellular models. Training at Harokopio University (HUA) in Greece combined theoretical teaching with laboratory research, making use of modern technologies. The research group also consisted of clinical dieticians with experience in dietary assessment, clinical intervention trials with nutritional supplements, and data collection and management of epidemiological surveys. KDAH in Mumbai, India, is a top tertiary care health centre in India and has a long history in the management of patients with WD.

The frequency of WD in the Western Indian population has been elucidated. The analysis was achieved by the joint research activities of the partners and will lead to an improved understanding of the epidemiology of WD. As most European laboratories perform direct DNA sequencing of the WD gene, this methodology was used to explore the WD population of India. The functional characterization of individual mutations was analyzed in a novel cellular model of WD. The clinical management of WD differs between countries of the EU and India. Separate protocols for diagnosis and therapy of WD have been compared. Given the high diagnostic potential of direct DNA sequencing and the diverse modalities for patient management both were compared between countries. On-site research modules for preparation of mesenchymal stem cells (MSCs) and characterization of the cells were performed.

The EU partners WWU and HUA have gained an exposure to a high number of patients with WD and to the alternate genetic screening system established in India. The EU has achieved first-hand knowledge of patient management in India, and the challenges and opportunities that are associated with the transfer of highly advanced technology in the medical field to a third country. Owing to the current lack of an exhaustive functional characterization of mutations in India, the EU partners have achieved an outstanding knowledge of the frequency and phenotype of individual mutations in the Indian population.