Rare disease patients are more likely to receive a rapid molecular diagnosis nowadays
thanks to the wide adoption of next‐generation sequencing. However, many cases remain …

Reanalysis of inconclusive exome/genome sequencing data increases the diagnosis yield
of patients with rare diseases. However, the cost and efforts required for reanalysis prevent …

Getting a diagnosis can be a long and arduous process for a patient with a rare disease.
Some patients take months, years, or even their entire lives to receive a proper diagnosis …

In two recent articles, a new variant of spinocerebellar ataxia, SCA27B, associated with a
GAA trinucleotide expansion in the first intron of the FGF14 gene, has been described [1, 2] …

The Solve-RD project objectives include solving undiagnosed rare diseases (RD) through
collaborative research on shared genome-phenome datasets. The RD-Connect Genome …

Les maladies génétiques associées à des troubles neurodéveloppementaux (TND)
regroupent plusieurs maladies pour lesquelles peu de traitements sont proposés …

Rare inherited neurological and neuromuscular diseases affect the central nervous system,
peripheral nervous system, and skeletal muscles. About 80% of rare diseases are estimated …

Maailmassa noin 300 miljoonalla ihmisellä on jokin harvinaissairaus. Harvinaissairauksiin
liittyy usein neurologisia oireita ja löydöksiä. Suurin osa harvinaissairauksista on …

The unique genetic make-up of genetically isolated communities, where otherwise rare
genetic founder variants may become enriched, allows the clinical relevance of these …