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

Recurrent inversion polymorphisms in humans

Inversions in the human genome form more commonly than previously thought, impacting our understanding of genetic stability and diseases.

Clinical implementation of RNA sequencing in rare genetic disorders

A new study introduces a workflow with the clinical implementation of RNA sequencing in conjunction with DNA sequencing to diagnose patients with rare genetic disorders.

GHGA launches patient involvement efforts

Within a participatory study, GHGA will hold deliberative democratic forums exploring the patients’ perspectives and which concrete roles patients could take within GHGA governance.

Upcoming Events

GHGA Lecture Series: Christine Mundlos (virtual)

Christine Mundlos from ACHSE e.V. presented "We are only strong together - Chronic Rare Disease Alliance".

GHGA workshop at the annual meeting of the GfH

GHGA organised a workshop titled "Best-Practise Beispiele für eine gemeinsame Genom-Datennutzung" at the annual meeting of the German Society for Human Genetics.

GHGA Lecture Series: Barbara Prainsack (virtual)

Barbara Prainsack from the University of Vienna, and King's College London will present "How can data-driven practices in biomedicine contribute to healthy societies? Empirical and healthy conceptual considerations". Register now!

Workshop: FAIR in (biological) practice

GHGA will hold its first training course, FAIR in (biological) practice, from 30.05-02.06.2022. This virtual hands-on workshop is co-organised together with EMBL Bio-IT and will teach the FAIR principles, what this means in practice and how they can be integrated into ...

CSAMA2022 - Bioconductor Summer School

CSAMA 2022 is a one week intensive summer school on Statistical Data Analysis for Genome-Scale Biology. The course is co-organized by Bioconductor and GHGA member Wolfgang Huber. GHGA is an academic supporter of the event.

GHGA Lecture Series: Annette Peters (virtual)

Annette Peters from the Helmholtz Munich and Ludwigs Maximilian University Munich will present "The German National Cohort - Overall study design and OMICS concept". Register now!

GHGA Lecture Series: Becca Wilson (virtual)

Becca Wilson from the Newcastle University will present "DataSHIELD: Secure Data Science Collaboration". Register now!

EuroBioC2022 - European Bioconductor Conference in Heidelberg

GHGA is co-organising EuroBioC2022. EuroBioC is the European Conference for Bioconductor, an open-source community and a non-profit organization that develops some of the most widely used data analysis tools in bioinformatics.

GHGA Lecture Series: William Rayner (virtual)

William Rayner from the Helmholtz Munich will present "Genomic federated data analyses". Register now!

GHGA Annual Meeting 2022

Save the Date - we are pleased to announce that the next internal GHGA Annual Meeting will take place 10-11 October 2022, in Tübingen.