Close Menu

rare disease

The agency said its guidance provides transparency about a Humanitarian Device Exemption pathway associated with rare diseases affecting up to 8,000 people.

The testing programs are financially supported by the drugmakers, and will allow Invitae to provide free testing and genetic counseling for rare inherited retinal disease and primary immunodeficiencies.

Centogene said it will conduct molecular diagnostic testing using deletion/duplication analysis and full-length sequencing of the DMD gene.

As part of the collaboration, Belgium-based Diploid will integrate Genomenon's Mastermind genomic search engine into its Moon diagnostic software.

Through the Alnylam Act program, patients suspected of having the rare disease or with a family history of the illness will receive testing at no cost.

PerkinElmer will offer providers and patients screening for ASAH1 mutations through its PerkinElmer Genomics laboratory unit.

UK researchers found that just 22 percent of screening recommendations for rare newborn diseases were based on systematic reviews of available evidence.

The commission includes Shire, Microsoft, and EURODIS Rare Diseases Europe, and will develop a roadmap "to help the rare disease field ... shorten the multiyear diagnostic journey."

Centogene opened a Boston office in December and plans to open a lab there in a few months as it awaits an FDA decision on its clinical tool.

PerkinElmer Genetics will provide clinical whole-genome sequencing, data interpretation, and diagnostic reports to IDG for patients with neurological disorders.

Pages