CARE for RARE is a pan-Canadian collaborative team of clinicians, bioinformaticians, scientists and researchers building upon the infrastructure and discoveries of the FORGE Canada (Finding of Rare Disease Genes) project. The goal of CARE for RARE is to improve clinical care for patients and families affected by rare diseases by expanding and improving the diagnosis and treatment of rare diseases.
The goal of ELIXIR is to orchestrate the collection, quality control and archiving of large amounts of biological data produced by life science experiments. Some of these datasets are highly specialised and would previously only have been available to researchers within the country in which they were generated.
For the first time, ELIXIR is creating an infrastructure – a kind of highway system – that integrates research data from all corners of Europe and ensures a seamless service provision that is easily accessible to all. In this way, open access to these rapidly expanding and critical datasets will facilitate discoveries that benefit humankind.
Science and technology change very quickly, and exploiting these advances can be a challenge. ELIXIR partners are building an intelligent, responsive and sustainable system that will deliver the fruits of these advances to the scientists upon whom so many hopes are pinned, and whose curiosity is the very cornerstone of progress.
Genesis (formerly GEM.app) is an evolving set of tools that facilitates the storage, annotation, and analysis of genome-scale variant data. Managing data from hundreds of exomes/ genomes is the key feature.
The Global Alliance for Genomics and Health (Global Alliance, or GA4GH) was formed to help accelerate the potential of genomic medicine to advance human health. It brings together over 300 leading institutions working in healthcare, research, disease advocacy, life science, and information technology. The partners in the Global Alliance are working together to create a common framework of harmonized approaches to enable the responsible, voluntary, and secure sharing of genomic and clinical data.
For most patients with rare diseases, the cause of the disease is still unknown after exome and genome sequencing. Finding just a single additional case of a patient with similar symptoms and a mutation in the same gene may provide sufficient evidence to identify the causative gene. Unfortunately today, case data remain in isolated databases. The ‘Matchmaker Exchange’ project, launched in 2013, addresses this challenge and helps find genetic causes for patients with rare disease. It allows for Exchange of research data to facilitate Matchmaking – matching of cases with similar symptoms (phenotypic profiles) and genetic variants (genotypic profiles). In Matchmaker Exchange, a large and growing number of teams and projects work towards a federated platform for analysing shared research data and matching phenotypic and genotypic profiles through standardized application programming interfaces (APIs) and procedural conventions.
Monarch Initiative’s objective is to make all the data count. It isn’t just another database that slurps data from the typical places and renders it in a different format. Monarch truly integrates biological information using semantics, and presents it in a novel way, leveraging phenotypes to bridge the knowledge gap. By the use of computational reasoning, Monarch enables phenotype comparison both within and across species, with the ultimate goal of improving biomedical research.
RARE-Bestpractices is a four year project (January 2013-December 2016) funded by the European Commission under the FP7 Cooperation Work Programme: Health-2012. The project focuses to the specific action HEALTH.2012.2.4.4-3: Best practice and knowledge sharing in the clinical management of rare diseases.