Grand challenges in rare diseases: register for the GA4GH Rare Disease Community of Interest webinar on 29 February 2024

20 Feb 2024

Join the GA4GH Rare Disease Community of Interest on Rare Disease Day to discuss the current challenges in research and management of rare diseases and how GA4GH products can support advances in these areas.

Image summary: The upcoming webinar, scheduled for 29 February 2024 at 16:00 UTC, will include presentations from Matt Bolz-Johnson and Marc Hanauer.

On Rare Disease Day 2024, the Global Alliance for Genomics and Health (GA4GH) Rare Disease Community of Interest will host a webinar to foster collaboration and innovation in the field of rare diseases and discuss the importance of data standardisation and sharing.

Rare diseases affect more than 300 million people worldwide. While each disease is indeed rare in of itself, the collective burden is significant. Individuals often need more attention and resources, embarking on long diagnostic journeys to understand and treat their conditions. 

GA4GH recognises the pressing need to unlock the potential of genomics to advance rare disease diagnosis, treatment, and research. Formed in 2023, the Rare Disease Community of Interest serves as a venue to address real-world challenges and advance data interoperability. The community aims to explore how a more holistic approach to capturing knowledge can lead to improvements in the quality of life of rare disease patients.

The upcoming webinar, scheduled for 29 February 2024 at 16:00 UTC, will include presentations from Matt Bolz-Johnson, Mental Wellbeing Lead and Healthcare Advisor at Rare Diseases Europe (EURORDIS) and Marc Hanauer, Deputy Director at Orphanet. Our speakers will elaborate on some of the grand challenges of the rare disease domain and ways to address them. Attendees will also learn about the work of the GA4GH Rare Disease Community of Interest, ways that they can get involved, and how the community intersects with the needs of international rare disease initiatives.

“No one institute or country has the answers alone,” said Tudor Groza, Co-Lead of the GA4GH Rare Disease Community of Interest, Data and Technical Coordinator at the Rare Care Centre in Australia, and Visiting Scientist at SingHealth Duke-NUS Institute of Precision Medicine. “If we’re to make a dent in understanding the causes of rare diseases, we need to come together to share our knowledge and information.” 

Nicole Vasilevsky, fellow Co-Lead of the GA4GH Rare Disease Community of Interest and Associate Director of Data Science at Critical Path Institute, added, “We are incredibly excited to bring the rare disease community together for this event and forge new collaborations to tackle challenges we face in rare disease data sharing.”

Matt Botz-Johnson will discuss the impact of rare diseases on mental health and well-being. Marc Hanauer will share his work on building a data ecosystem for rare diseases. A question and answer period will follow to highlight topics of interest and use cases within the rare disease field. Lastly, attendees will brainstorm together the role of patient advocacy in informing GA4GH product development. 

Individuals interested in attending the webinar are encouraged to register in advance.

Visit the GA4GH Rare Disease Community of Interest page to learn more about current activities and efforts.

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