GA4GH News

GA4GH Community Spotlight: Kristina Kékesi-Lafrance

February 4

This GA4GH Community Post is the ninth in our monthly series featuring individuals from across the organization. This month we are turning the spotlight on Kristina Kékesi-Lafrance, the Assistant Manager for the Regulatory and Ethics Work Stream!

Phenopackets v2 expands utility to provide a more complete medical picture

February 2

To expand the utility of the standard, the Phenopackets development team has now released Phenopackets v2.0. Originally developed for the rare disease use case, version two enables better representation of cancer and common disease as well.

GA4GH Mentions

Solving the puzzle of rare diseases through international collaboration

February 7 • Horizon Magazine, Belgium

The IRDiRC launched an international and open collaboration in 2013 in cooperation with the Global Alliance for Genomics and Health, resulting in a wide network of international participants for the Matchmaker Exchange. This tool has been instrumental in finding the genetic causes for patients with RD by providing evidence – from cases around the world – to identify the causative genes.

Record-breaking rapid DNA sequencing promises timely diagnosis for thousands of rare disease cases

February 3 • The Conversation, USA

Creating data-sharing systems and crafting regulations will be vital to allow people to safely share their personal information between countries. The European Joint Programme on Rare Diseases and the Global Alliance for Genomics & Health (GA4GH) are making progress toward these goals, building bridges between rare disease communities around the world.

Academic Papers

Milne R, Morley KI, Almarri MA, Atutornu J, Baranova EE, Bevan P, et al. Return of genomic results does not motivate intent to participate in research for all: Perspectives across 22 countries. Genetics in Medicine. 2022.

https://doi.org/10.1016/j.gim.2022.01.002