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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.
Centogene said it will use the funds to accelerate growth and expansion in the areas of genetic testing, pharmaceutical collaborations, and big-data solutions.
Congenica will use the proceeds to establish its presence in the US and China, where it will court not only clinical genetics labs, but specialists, academics, biotech, and pharma.
The company will use the proceeds from the round to invest in sales and marketing efforts for its Sapientia clinical genome analysis platform, as well as for R&D.
The new institute plans to use structured clinical information to inform targeted testing in order to cut down the time to diagnosis.