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Genomic variations underlying common behavior diseases and cognition trait in human populations

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Scientific and ethical advances in neuropsychiatric research

There is currently a high prevalence of neuropsychiatric diseases such as affective disorders, schizophrenia and alcohol addiction. Supported by EU funding, a group of researchers conducted a search and analysis of genomic variations underlying Alzheimer's disease, alcoholism and schizophrenia.

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Identifying the underlying mechanisms and aetiological factors of such disorders is of utmost importance for the development of causal and individually tailored therapies. With the support of EU funding, the 'Genomic variations underlying common behavior diseases and cognition trait in human populations' (ADAMS) project took on the challenge. ADAMS employed genome-wide association analysis (GWAS) in cohorts of patients and healthy individuals from several ethnic populations in Europe and Russia. The project team was thus able to significantly extend studies of genomic variations underlying these diseases. Project members made progress in the areas of genetic factors involved in Alzheimer's disease (AD), the regulation of alcohol consumption, and human addiction. Other scientific project achievements include the development of molecular genetics instruments for high-throughput screening of disease susceptibility alleles. In studying the Russian population, a biochip approach was used to analyse the association of newly discovered single nucleotide polymorphism (SNP) markers with the risk of developing AD, schizophrenia and alcoholism. Patients suffering from these conditions as well as control subjects of Russian origin were tested to validate the sensitivity and specificity of the biochip. The genotype data are in agreement with previously described associations in both Russian and other European origin populations. Particular emphasis was placed on ethics. Relevant work addressed informed consent, the use of an ethnic label to describe samples and data in genomics, guidance regarding the transfer and sharing of genomics data and samples, and agreed standards on community-level interaction considering the health implications of genomics research. As such, ADAMS highlighted the need for shared responsibility among beneficiaries until such time as international applicable ethics and governance norms are formulated. Additionally, the project stressed the need for the European Commission to generate and apply provisional ethics processes and standards. ADAMS contributed to building a foundation for this provisional guidance with the development of a coherent and justifiable set of ethics principles and approaches. A decision tree was produced, offering suggestions for action in the event of uncertainty on a point of ethics or governance. This decision tree prefaces recommendations related to ethics of good practices, as formulated by ADAMS. Research results have been reported to the scientific community through some 70 peer-reviewed journals and at high-profile international conferences.

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