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European Human Genetics Conference - Rotterdam, The Netherlands June 12-15, 2027

European Human Genetics Conference 2027

June 12 - June 15
The conference will take place in Rotterdam on 12–15 June 2027 and is planned as a hybrid event by the European Society of Human Genetics.
uropean Human Genetics Conference (ESHG) 2026

At ESHG 2026 in Gothenburg, ERDERA’s diagnostics work reviewed early progress and the next phase ahead

At the European Human Genetics Conference 2026 in Gothenburg, ERDERA’s Diagnostic Research Workstream reviewed progress, highlighted early results and used a major European genetics meeting to examine how advances in data sharing and genomic analysis may strengthen rare disease diagnosis across countries.
the power behind erdera2 (1)

Undiagnosed Day 2026 | Where diagnosis becomes hope: The power of collaboration and technology in rare diseases

April 29 - April 30
This meeting will focus on practical approaches to phenotyping and diagnosis in undiagnosed conditions, including how to define next steps when a diagnosis remains uncertain, and how to strengthen pathways and collaboration around undiagnosed care.
Genetic Mapping

ERDERA unites 10 000 rare disease datasets in a single, secure European resource

In its first year, ERDERA has brought together 10 000 harmonised genomic and phenotypic datasets from unsolved rare disease cases across Europe, creating a secure, standardised and scalable resource.
abstract publication image on science health

Standardized transcriptome analysis improves rare disease diagnosis in the pan-European Solve-RD consortium

Long-read genome sequencing (lrGS) has the potential to consolidate current standard-of-care (SoC) diagnostics into a single assay, but its accuracy and clinical utility in routine practice have not been established at large scale.
Publications

Clinical long-read genome sequencing for rare disease diagnostics

Long-read genome sequencing (lrGS) has the potential to consolidate current standard-of-care (SoC) diagnostics into a single assay, but its accuracy and clinical utility in routine practice have not been established at large scale.
abstract publication image on science health

An outlier approach: advancing diagnosis of neurological diseases through integrating proteomics into multi-omics guided exome reanalysis

A multi-omics approach combining proteomics, transcriptomics, and exome reanalysis improved diagnosis of neurodevelopmental disorders, resolving uncertain variants and increasing diagnostic yield.
CELL & GENE THERAPY INSIGHTS

Breaking barriers in cell and gene therapy: advancing ATMPs through innovation and collaboration

Effective collaboration between industry, academia, and patient organizations is essential to advance standardized platform technologies. A recent example is the newly launched European Rare Diseases Research Alliance (ERDERA).

ERDERA's

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