Inherited Disease

News on Mendelian diseases, hereditary cancer, variant classification, cystic fibrosis testing and more.

If recommended by the US Department of Health and Human Services, spinal muscular atrophy screening will potentially be adopted on the state level.

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.

Sebia and Janssen Biotech collaborated on the development of the test, which is for assessing patients treated with Darzalex. 

In the long run, genome-wide DNA methylation profiling could be useful in diagnosing constitutional disorders as well as cancer.