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Inherited Disease

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

The Unity test enables screening for several autosomal recessive conditions from fetal DNA gathered from maternal blood.

The company announced this week the expansion of a genetic testing program for US patients with inherited retinal disease that it has run with partners since 2017.

Under the agreement, the companies plan to offer combined genetic and biochemical testing services out of Blueprint's clinical laboratory in Seattle.

The company provided updates on its newborn screening testing presence.

The firm it plans to offer from time to time units of its common stock, preferred stock, one or more debt securities, warrants, or rights to such securities in one or more series.

NPR reports that the patient who underwent a CRISPR-based treatment for sickle cell disease is doing well.

Resistance to ash dieback disease among some UK ash trees appears polygenic, the Independent reports.

In Nucleic Acids Research this week: sequencing strategy for flash-frozen brain tissue bank samples, new version of ChlamDB, and more.

A UK woman is suing three National Health Service Trusts for not telling her about her father's Huntington's disease diagnosis, the BBC reports.