AVE Executive Committee Co-Chairs Drs. Doug Fowler and Matt Hurles: 'Together, we are building a future where we can profoundly impact human health.'
The Atlas of Variant Effects Alliance has chosen “gratitude” as the theme for its 2024 Annual Report and for good reason. Consider that over the past 12 months the international alliance:
- Expanded its geographic reach to include members from 50 countries.
- Launched the Alliance-sponsored "Variants and Us" podcast with colleagues at the University of Toronto.
- Enhanced the MaveDB platform with new visualizations, streamlined workflows, and downstream data integrations.
- Sent several representatives to a variant effects meeting where recommendations were made to create a clinical atlas of genetic variant effects by 2030.
- Provided valuable educational materials and resources, including guidelines for variant effect predictor use and interpretation, as well as guidelines for using functional evidence in clinical practice.
“Our journey towards mapping variant effects and creating a comprehensive Atlas of Variant Effects has been nothing short of remarkable,” said AVE Executive Committee Co-Chairs Drs. Doug Fowler of the Brotman Baty Institute and Matt Hurles of the Wellcome Trust Sanger Institute. “These advancements … showcase our collective dedication to improve disease diagnosis, prognosis, and treatment through genomic insights... Together, we are building a future where we can profoundly impact human health.”
The 23-page report notes that Alliance now has more than 700 members from 50 nations.
Most of them are early to mid-career scientists, as well as senior-level individuals in industry, government, and academia, along with as well as patient advocacy groups and foundations. In total more than 375 institutions are represented.
In addition, in 2024, the Alliance participated in several cross consortia collaborations, including the Trans-Variant Working Group led by with the National Human Genome Research Institute. The group was established in 2023 to improve communication and increase collaboration among members of ClinGen, GREGoR, HPRC, IGVF and the AVE Alliance in the gathering, analysis and clinical use of variant functional data.
A 2024 paper, "Using multiplexed functional data to reduce variant classification inequities in underrepresented populations," which originated within the Alliance was published in Genome Medicine. It is among a dozen a dozen peer-reviewed papers referencing the Alliance published in 2024.
The report also highlights 2024 Mutational Scanning Symposium, an annual conference co-hosted the AVE Alliance and supported by BBI. The MSS 2024, held in May at the Broad Institute in Boston, included keynote talks by Drs. Heidi Rehm and Vijay G. Sankaran. There were 240 attendees from 14 countries. Sponsors for the event included the Chan Zuckerberg Initiative, Illumina, AstraZeneca, CIFAR, ManifoldBio, Octant, protocols.io, and SEISMIC. The 2025 symposium will be held in May in Barcelona, Spain. Learn more and register here.
“The activities and accomplishments in the 2024 AVE Alliance Annual Report reflect the Alliance’s values and principles: inclusivity; Open Access Science; Research Excellence and Integrity; and Respect, Relevance, Reciprocity, Responsibility, and Relationships,” said Lara Muffley, the Alliance’s Director of Program Operations. “Our members share a deeply collaborative commitment to translating exceptional genetic research into clinical applications, enabling healthier futures for all people.”
