About us
Learn how GA4GH helps expand responsible genomic data use to benefit human health.
Rare Disease Community
The GA4GH Rare Disease Community of Interest promotes global cooperation, data sharing, and collaborative rare disease research through the exchange of expert knowledge and promotion of GA4GH standards.
The GA4GH Rare Disease (RD) Community of Interest serves as a hub for initiatives in the rare disease space to exchange information on methods for data collection, discovery, analysis, and sharing. The community hosts informational presentations on implementing GA4GH standards within rare disease platforms and collaborative workshops focused on specific challenges within the community. Past discussions have included encoding longitudinal phenotypes, communicating and exchanging phenotypes in human language, and defining and sharing statistical data on phenotypes in diagnosed cohorts.
Jump to...
Identified focus areas
Patient consent and data collection
- Standardised phenotype collection – through APIs, terminologies, and schemas
- Clinical and research encounters
- Electronic Health Records (EHR)
- Longitudinal records
- Consent and patient education
- Privacy preserving record linkage
- Capture of environmental and non-genetic factors
Data access, sharing, and analysis
- Schemas and APIs for data sharing
- Data protection stipulations
- Variant matching implementations
- Access to full patient data (such as VCF files or phenotypes)
- Functional data, animal model, and cell line sharing
- Machine learning on data
- Broad access to updated literature curation
- Transmission of phenotypes
Knowledge sharing
- Sharing variants and the evidence base to ClinVar
- Gene-disease validity to GenCC
- Building knowledge for the phenotypic spectrum of gene-disease combinations
Goals
- Collaborate to address real-world challenges and develop interoperable standards;
- serve as a venue for existing groups to share current work and gather more interest and participation;
- approach rare disease challenges from both a clinical and patient perspective;
- increase the chances of collaboration, favouring interoperability and data sharing.
Activities
- Discuss the needs of the rare disease community;
- educate rare disease community members about GA4GH products;
- review, design, develop, implement, and exercise GA4GH-based data sharing infrastructures within real-world genomic scenarios;
- initiate data integrations involving two or more international projects with an agreed goal of advancing rare disease science or clinical implementation;
- collaborate and share datasets, workflows, and processes that, when brought together, can advance the field of rare disease diagnosis and discovery;
- create guidance documents and share examples to support reproducibility across the community;
- strengthen the communication and interaction between users and developers to support the creation of fit-for-purpose solutions.
Members
Members
Members
Members
Members
Members
Members
Members
Members
Members
Members
Members
Members
Members
Members
Members
Members
Members
Members
Members
Members
Members
Members
Members
Members
Members
Members
Members
Resources
Dive deeper into our community of interest! Explore resources for the Rare Disease Community of Interest, including announcements, meeting minutes, documents, and other materials.
#
Date
Title
Info
29 Feb 2024
Join us on 29 February at 16:00 UTC for a webinar to commemorate Rare Disease Day. Hosted by the GA4GH Rare Disease Community of Interest, the webinar will focus on the power of data sharing and standardisation to improve patient outcomes.
#
Date
Title
News, events, and more
Catch up with all news and articles associated with Rare Disease Community.
