Reference: 261123 Abstract: We are committed to gaining insights into the human genome and its role in health and medicine by sharing data, experience and expertise in high-throughput sequencing. The purpose of this website is to keep you up to date with the project, and to help you find accessible information about genomics and personalised … Read more
Reference: 241995 Abstract: Mutations in about 400 different genes have been associated with Cognitive Disorders (CD), such as mental retardation, autism, neurodegenerative disorders, and psychiatric disorders. Whereas CD impose a major medical and socio-economical problem, there are no systematic studies that aim to provide insight into common mechanisms in CD. We propose a systems biology … Read more
Reference: 503433 Abstract: In this ‘post-genomic’ era, advances in epigenetic research represent a new frontier that is predicted to yield novel insights for gene regulation, cell differentiation, stem cell plasticity, organismal development, human diseases, cancer, infertility and aging. A central emerging concept proposes that there is an ‘epigenetic code’, which considerably extends the information potential … Read more
Reference: ORPHA258004 Abstract: Rett syndrome (RS) is a neurological disorder primarily affecting girls, with an incidence of about 1/10,000 female births. It is a genetic disease, the second cause of severe mental retardation in women and a leading cause of postnatal neurodevelopmental regression. Rett syndrome is a model for autism-spectrum disorders and it is classified … Read more
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