NeurOmics website
NeurOmics website
Rare Neuromuscular and Neurodegenerative Diseases
NeurOmics -omics data now available from the EGA
The NeurOmics consortium generated a variety of phenotype, sequencing and other –omics data (transcriptomics, lipidomics, metabolomics).
Data was combined into datasets according to disease group and data type. These datasets are stored at the European Genome-Phenome Archive (EGA). Please search the EGA for “neuromics” to get an overview of available datasets and their respective dataset IDs. A list of available datasets can also be found here (I would here link to the main page 'Omics data).
Controlled access to NeurOmics datasets can be requested by filling in the NeurOmics Data Access Agreement (link the download here) and sending it to the Data Access Committee.
The Data Access Committee (DAC) will discuss your request and will inform you about its decision and further steps. For more info see here
Welcome to Neuromics
NeurOmics was a research project funded by the European Commission for five years (10/2012-09/2017).
The project studied 10 rare neurodegenerative and neuromuscular diseases with the aims to: a) find novel disease-causing genes, b) improve diagnostics, and c) develop novel therapies for these disorders.
The project brought together the important stakeholders in the field, from researchers, clinicians, bioinformaticians, patients, and ethics experts to SMEs.
Project aims
- increase the number of patients with a genetic diagnosis;
- develop biomarkers for clinical application;
- improve understanding of pathophysiology and identify drug targets;
- identify disease modifiers;
- develop targeted therapies;
- translate findings to other, related disease groups.
Disease fields
The focus of Neuromics is on 10 major disease categories. Some of these are at a promising stage of etiological and therapeutic research, whilst in others, diagnostic and therapeutic concepts are still preliminary. The conditions included are:
Ataxia
Congenital muscular dystrophy
Congenital myasthenic syndrome
Fronto-temporal lobe dementia
Hereditary motor neuropathies – Charcot-Marie-Tooth disease
Hereditary spastic paraplegias
Huntington’s disease
Muscular channelopathy
Muscular dystrophy
Spinal muscular atrophy – Lower motor neuron disease
Project partners
University of Tübingen, Germany
Ariadne Diagnostics, LLC
Bio-Prodict
Cambridge University
German Center for Neurodegenerative Diseases (DZNE)
Institut National de la Santé et de la Recherche Médicale
deCODE genetics
Leiden University Medical Center – LUMC
Newcastle University
Profilomic
Universitätsklinikum Freiburg
Universite d’Aix Marseille
University College London – ICH
University College London – IoN
University College London – MRC
University Hospital Cologne
University of Antwerp – CDE
University of Ferrara
University of Milan
University of Tübingen
University of Western Australia
The NeurOmics project has received funding from the European Union’s Seventh Framework Programme for research, technological development and demonstration under grant agreement no 2012-305121.
