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.

Community resources

Research4rare.de is a central information hub for researchers investigating rare diseases in Germany. An active exchange with colleagues from the field is encouraged on their slack channel.

Latest News

Advances in scalable DNA sequencing analysis: nf-core/sarek 3

A recent publication with GHGA contribution introduces nf-core/sarek 3, a comprehensive variant calling and annotation pipeline designed for both germline and somatic samples.

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Benchmarking genomic variant calling

A recent publication, spearheaded by the Next Generation Sequencing Competence Network (NGS-CN) and GHGA, introduces NCBench, a platform for continuous benchmarking of genomic variant calling workflows.

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Release of the GHGA Metadata Model v1.0 and White Paper

With the refactoring of the GHGA Metadata Model to version 1.0, we released a white paper summarising the development of the model and describing the modelling framework in detail.

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Upcoming Events

GHGA Lecture Series: Sebastian Lunke (virtual)

Sebastian Lunke from the Victorian Clinical Genetics Services will talk at the GHGA lecture series. Register now!

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GHGA Lecture Series: Anthony Brookes (virtual)

Anthony Brookes from the University of Leicester will talk about "Research Asset Discovery in Large European Networks" at the GHGA lecture series. Register now!

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