Tag: Genetic diseases

the power behind erdera2 (1)

Undiagnosed Day 2026 | Where Diagnosis Becomes Hope: The Power of Collaboration and Technology in Rare Diseases

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.
Young Patients Training

ERDERA opens call for young rare disease advocates to join training in Paris

Taking place on 23–25 April at Institut Imagine in Paris
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.
P065130-367547

AFM‑Telethon launches its 2026 call to fund scientific and medical research in neuromuscular disorders

A funding opportunity for neuromuscular and rare genetic disease research is now open
Genome Res

Optical genome mapping enables accurate testing of large repeat expansions

This study shows that optical genome mapping accurately detects and sizes pathogenic short tandem repeat expansions, outperforming standard methods for large repeats and revealing somatic instability, supporting its use as a genome-wide diagnostic tool.

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