Learn how GA4GH helps expand responsible genomic data use to benefit human health.
Learn how GA4GH helps expand responsible genomic data use to benefit human health.
Our Strategic Road Map defines strategies, standards, and policy frameworks to support responsible global use of genomic and related health data.
Discover how a meeting of 50 leaders in genomics and medicine led to an alliance uniting more than 5,000 individuals and organisations to benefit human health.
GA4GH Inc. is a not-for-profit organisation that supports the global GA4GH community.
To guide our collaborative, globe-spanning alliance, GA4GH relies on a Standards Steering Committee and an Executive Committee.
The Funders Forum brings together organisations that offer both financial support and strategic guidance.
The EDI Advisory Group responds to issues raised in the GA4GH community, finding equitable, inclusive ways to build products that benefit diverse groups.
Distributed across four Host Institutions, our staff team supports the mission and operations of GA4GH.
Curious who we are? Meet the people and organisations across six continents who make up GA4GH.
More than 500 organisations connected to genomics — in healthcare, research, patient advocacy, industry, and beyond — have signed onto the mission and vision of GA4GH as Organisational Members.
These core Organisational Members are genomic data initiatives that have committed resources to guide GA4GH work and pilot our products.
This subset of Organisational Members whose networks or infrastructure align with GA4GH priorities has made a long-term commitment to engaging with our community.
Local and national organisations assign experts to spend at least 30% of their time building GA4GH products.
Anyone working in genomics and related fields is invited to participate in our inclusive community by creating and using new products.
Wondering what GA4GH does? Learn how we find and overcome challenges to expanding responsible genomic data use for the benefit of human health.
Study Groups define needs. Participants survey the landscape of the genomics and health community and determine whether GA4GH can help.
Work Streams create products. Community members join together to develop technical standards, policy frameworks, and policy tools that overcome hurdles to international genomic data use.
GIF solves problems. Organisations in the forum pilot GA4GH products in real-world situations. Along the way, they troubleshoot products, suggest updates, and flag additional needs.
NIF finds challenges and opportunities in genomics at a global scale. National programmes meet to share best practices, avoid incompatabilities, and help translate genomics into benefits for human health.
Communities of Interest find challenges and opportunities in areas such as rare disease, cancer, and infectious disease. Participants pinpoint real-world problems that would benefit from broad data use.
See all our products — always free and open-source. Do you work on cloud genomics, data discovery, user access, data security or regulatory policy and ethics? Need to represent genomic, phenotypic, or clinical data? We’ve got a solution for you.
All GA4GH standards, frameworks, and tools follow the Product Development and Approval Process before being officially adopted.
Learn how other organisations have implemented GA4GH products to solve real-world problems.
Help us transform the future of genomic data use! See how GA4GH can benefit you — whether you’re using our products, writing our standards, subscribing to a newsletter, or more.
Help create new global standards and frameworks for responsible genomic data use.
Align your organisation with the GA4GH mission and vision.
Solve your real-world data problems with support from this valuable network of global institutions.
Work with like-minded groups committed to better data use in areas like rare disease, cancer, and infectious disease.
Share your thoughts on all GA4GH products currently open for public comment.
Solve real problems by aligning your organisation with the world’s genomics standards. We offer software dvelopers both customisable and out-of-the-box solutions to help you get started.
Learn more about upcoming GA4GH events. See reports and recordings from our past events.
Speak directly to the global genomics and health community while supporting GA4GH strategy.
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Read news, stories, and insights from the forefront of genomic and clinical data use.
Attend an upcoming GA4GH event, or view meeting reports from past events.
See new projects, updates, and calls for support from the Work Streams.
Read academic papers coauthored by GA4GH contributors.
Listen to our podcast OmicsXchange, featuring discussions from leaders in the world of genomics, health, and data sharing.
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View the latest GA4GH updates, Genomics and Health News, Implementation Notes, GDPR Briefs, and more.
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14 Jul 2023
Nara Lygia De Macena Sobreira, associate professor of genetic medicine at Johns Hopkins University School of Medicine, joins the GA4GH Standards Steering Committee as Discovery Work Stream Co-Lead
To boost progress in building networks of tools that can search the world’s genomic wealth, Nara Sobreira has been appointed Co-Lead for the Discovery Work Stream of the Global Alliance for Genomics and Health (GA4GH).
She will steward connections among clinicians, health care professionals, researchers, and patients around the world — leading to safer, faster, and more efficient phenotypic and genomic data sharing that can improve patient care.
Sobreira is an associate professor of genetic medicine and paediatrics at the Johns Hopkins University School of Medicine and an expert in next-generation sequencing, rare Mendelian phenotypes, public genetic databases, and genetic analytical tools.
Having contributed to GA4GH for a decade, she will now shape efforts by the Discovery Work Stream to develop search tools that let researchers and clinicians find genomic data and services anywhere in the world.
Sobreira assumed the leadership role following the departure of Marc Fiume, a founding Discovery Co-Lead who had served since 2017 and is CEO of DNAstack.
“It has been such a gift to serve as Discovery Co-Lead,” said Fiume. “Since the inception of the Discovery Work Stream in 2017, through new standards like Beacon v2.0, Data Connect, Service Information, and Service Registry, we have achieved substantial progress in making genomics data and services more discoverable — towards our ultimate vision of enabling an ‘internet’ for genomics and health research.”
Sobreira will lead the Discovery Work Stream alongside Michael Baudis, a University of Zurich professor and group leader at the Swiss Institute of Bioinformatics, who has served as Co-Lead since 2020.
“We are pleased that Nara will be a strong voice representing clinical and global needs as we develop GA4GH standards for discovering genomic and phenotypic data,” said Baudis.
Sobreira trained in medicine and human genetics at the University of Pernambuco, Universidade Federal de Sao Paulo, and Johns Hopkins, receiving an MD and a PhD.
Her focus on identifying the genetic bases of rare phenotypes, for example in Ollier disease and Maffucci syndrome, led her to GA4GH. Sobreira began working with GA4GH in 2013 as part of the Matchmaker Exchange project, which aims to improve data sharing to facilitate the diagnosis of patients with rare diseases.
In addition to Matchmaker Exchange, Sobreira co-founded many important public efforts to store and share phenotypic and genomic data, including PhenoDB, GeneMatcher, and VariantMatcher. She created the free PhenoDB Variant Analysis Tool for evaluating patient data.
Sobreira will bring this crucial technical experience and user perspective to the next versions of GA4GH Discovery standards.
“Nara has been a longstanding champion of the Discovery Work Stream, particularly in the rare disease space, where federated discovery will play a crucial role in accelerating research and increasing solve rates. I am very excited for Nara to continue the momentum we have created together,” said Fiume, the outgoing Co-Lead.
With her deep expertise in both research and medicine, Sobreira will bolster efforts by the Discovery Work Stream to make GA4GH search tools friendlier to a clinical audience. For instance, the recent Cohort Representation Study Group explored how to clearly define, describe, and search for cohorts of people with shared phenotypes.
Sobreira steps into GA4GH leadership at a pivotal time, when the amount of sequencing data in the world is growing at unmatched rates. With her guidance, the GA4GH Discovery Work Stream will continue helping clinicians and researchers find such plentiful data safely and easily — and translate the benefits to patients.