Revolutionising Rare Disease Diagnostics

Millions of individuals affected by rare diseases (RD) face long diagnostic odysseys. Current tools like exome and short-read genome sequencing miss key variants, leaving many families without answers. ERDERA is here to change that. Together with leading genomics and multiomics experts, ERDERA is creating the most complete, innovative, and accessible diagnostic toolkit that can be used to offer hope and solutions to RD patients across the globe.

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Our Mission

To enable faster, more accurate, and globally accessible RD diagnostics through cutting-edge (gen)omics.

Complete human genome analysis

Multi-omics innovation (transcriptomics, epigenomics and more)

Reduced diagnostic turnaround times

Global equity in diagnostics

Our Impact

Faster Diagnoses

Shorter journeys for patients and their families

More Accurate Results

Full genome resolution + improved
interpretation

Equity in Access

Cutting-edge technologies for all
underrepresented countries

Innovation at Scale

Establishing new global benchmarks in RD care

What’s New?

Long-read sequencing

PacBio & Oxford Nanopore platforms reveal previously hidden genetic variants

Optical Genome Mapping

A powerful new layer for the detection of structural variations

Multi-omics integration

Combining genomics, transcriptomics, and epigenomics to reduce the number of variants of unknown significance

Global access

Training and empowering underrepresented countries to join the diagnostic revolution

Call for Collaboration:

New Samples Needed

We are currently looking for new samples that fit our use cases, for which we can carry out long-read sequencing and optical genome mapping.

If you have potentially interesting cases, or if you are interested in collaborating, please do get in touch with us.

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Amsterdam and online, convening clinicians, scientists and advocates to share progress and the power of patient led policy to improve diagnosis and care.
Sharing patient‑centred methods, early diagnostics, and data‑driven trial innovation to accelerate rare disease research across Europe.
This information webinar on the 2026 Joint Transnational Call for Proposals is scheduled for 16 December 2025, 15:00–17:00 CET, focusing on resolving unsolved rare genetic and non‑genetic diseases through variant validation and new technological approaches.
The 2026 Joint Transnational Call will be launched on 10 December, with a free information webinar on 16 December