NeurOmics: -omics research for diagnosis and therapy in rare neuromuscular and neurodegenerative diseases – an EU funded FP7 project

<p>Neuromics is an EU-funded translational research project which has the primary aim of greatly improving understanding of neuromuscular and neurodegenerative diseases. The research will study around 1100 exomes from undiagnosed patients in its aim to discover novel disease-causing and disease-modifying genes and to identify potential new therapeutic targets. Partners have also undertaken deep-phenotyping of patients using human phenotype ontology (HPO) terms. Agreements are in place to allow the secure sharing of this standardised clinical information along with WES and other –omics data both within Neuromics and with the wider rare-disease field. This will encourage collaborative partnerships and speed progress towards therapeutic and diagnostic breakthrough and improvements in care for patients. The project focusses on 10 rare, genetic neuromuscular and neurodegenerative disease groups: frontotemporal lobe degeneration; Huntington’s disease; ataxia; hereditary spastic paraplegia; spinal muscular atrophy; hereditary motor neuropathy; congenital myasthenic syndrome; muscular dystrophy and muscular channelopathy. The project brings together the leading research groups in Europe, five highly innovative SMEs and overseas experts to work together using the most sophisticated -omics technologies employing genomics, transcriptomics, proteomics and metabolomics.</p> <p>The consortium is coordinated by Olaf Riess at Tübingen University, Brunhilde Wirth at Cologne University and Gert-Jan van Ommen at Leiden University. Neuromics is working closely with RD-Connect, the rare-disease platform, in order to develop a global infrastructure for the wide sharing of research outputs of Neuromics, and other rare disease projects.</p> <p>At the end of its first year of activity, this poster describes the aims and methods used in the Neuromics project and reports on progress made so far. It highlights how Neuromics will contribute significantly to the ambitious goals of the International Rare Diseases Research Consortium (IRDiRC): deciphering the genetic causes of all rare diseases and the development of 200 new therapies by 2020.</p

Additional file 1: of IL7R gene expression network associates with human healthy ageing

Table S1. Linear regression results of gene expression of offspring from long-lived individuals compared to controls, adjusted for white blood cell counts. Table S2. Linear regression results of IL7R gene expression of offspring from long-lived individuals compared to controls, adjusted for prevalence of immune-related diseases. (XLSX 12 kb

Data-sharing in NeurOmics: enabling effective collaboration and working with RD-Connect

<p>Within the NeurOmics project 1100 samples from across 10 rare neurodegenerative and neuromuscular diseases will undergo whole exome sequencing. In addition patients will be deep phenotyped, RNAseq will be carried out and biomarker studies are to be developed – this will all lead to improved understanding of the conditions, causative and modifier gene discovery, more diagnoses and the identification of potential therapeutic targets.</p> <p>For these ambitious aims to be realised, both omics and phenotypic data should be accessible for study by NeurOmics partners across the disease groups. In order to enable this, the NeurOmics project has built an online clinical database in which all phenotypic data is mapped to the Human Phenotype Ontology (HPO), and has established data sharing policies and procedures in close collaboration with RD-Connect. This means that partners are committed to collaborative working within the consortium now and to wider data-sharing via the RD-Connect platform and the European Genome-phenome Archive (EGA) in future, according to agreed timelines that ensure all NeurOmics data is ultimately accessible to researchers worldwide. The policies in place ensure that investigators’ rights to publish first and to intellectual property are protected whilst information sharing is facilitated. They also ensure that NeurOmics complies with the policies of the International Rare Diseases Research Consortium (IRDiRC), which mandates timely sharing of source data for the benefit of the rare disease research community. The NeurOmics policies also recognise the importance of patient consent - where this does not permit wide sharing of anonymised data, patients are to be reconsented before inclusion in the database.</p> <p>These policies have now been agreed and approved by the NeurOmics Steering Committee. This poster outlines how this has been achieved and describes the plans for future working with RD-Connect.</p

https://github.com/BiosemanticsDotOrg/GeneDiseasePaper

Source code for generating and analyzing concept profiles is available from Github under a AGPLV3.0 license: https://github.com/BiosemanticsDotOrg/GeneDiseasePape