Genome analysis plays a major role in rare disease research. Each rare disease affects fewer than 1 in 2 000 people (definition according to the European Union, https://www.eurordis.org/about-rare-diseases). With roughly 5 000 - 8 000 different rare diseases, that accumulates to 1 in 17 people having a rare disease, which amounts to about 30 Million people in the EU.
About 80% of rare diseases have genetic causes. Hence, genome analysis is often required to diagnose a rare disease. Many rare disease patients remain undiagnosed for a long time (or at all). Given that each individual disease is inherently rare, it is difficult to identify the pathogenic (= disease-causing) gene(s), which are often the key for a diagnosis. A shared data set of many rare disease patients and families, as well as healthy people for reference, would increase the chances of identifying these pathogenic genes. While diagnosis does not necessarily lead to treatment, it is a first step. Diagnosis enables better medical care, understanding of symptom causes and can help with family planning and even with communication about a patient’s condition among their social network.
Studies related to rare disease research make up a large proportion of available omics data. Together with cancer research, rare disease research is expected to dominate the data generation in the immediate future. Especially since sequencing methods are advancing at incredible speed and at the same time the costs decrease, leading to increasing cases of routine sequencing for diagnostic purposes.
For these reasons, while engaging and encouraging data submission by researchers in all medical fields, GHGA is initially focussing on rare disease and cancer research to fully address their specific needs. To support these efforts, GHGA will not only accept raw datasets but also generate community reference data collections. Community-specific tailored access portals combined with the curation of reference data collections will ensure the utility of GHGA's datasets to researcher and clinician communities – who in turn will help shape the further development of GHGA.
Here we collected relevant materials for the rare disease community, such as highlighting use cases and other news and events.
In early July, GHGA met with patients to understand their perspective on GHGA governance, particularly in terms of genomic data sharing. Based on these discussions a concrete strategy for patient participation will be developed.
The GHGA workflow workstream was involved in the release of bioinformatic workflows (sarek 3.0, nanoseq 3.0, and DROP 1.2), collaborating with the nf-core community and the Gagneur lab.
Sergi Beltran Agulló from the Centro Nacional de Análisis Genómico and Centre de Regulació Genòmica (CNAG-CRG) will present "Pan-European data sharing in Solve-RD contributes to diagnose Rare Diseases: can we make an even bigger impact?". Register now!