Skip to main content
Premium Trial:

Request an Annual Quote

Invitae Spinal Muscular Atrophy Test

Invitae launched a new genetic test for diagnosing spinal muscular atrophy (SMA), a neuromuscular disease that impacts infants' ability to walk, crawl, and eventually breath and swallow, and can be lethal. The company claims that its genetic test is an improvement over currently available methods. Affecting one in every 10,000 infants, SMA is an autosomal recessive disorder that is usually caused by the loss of SMN1 gene, while variations in the number of copies of SMN2 contributes to disease severity. Accurately gauging both sequence changes in SMN1 and copy number changes in SMN2 has been challenging in the past, but the company said in a statement it is hoping to address this with its next-generation sequencing test and customized bioinformatics solution. Invitae is offering analysis of SMN1 and SMN2 as a standalone test, and adding the genes to its neuromuscular and neuropathy panels.

The Scan

Billions for Antivirals

The US is putting $3.2 billion toward a program to develop antivirals to treat COVID-19 in its early stages, the Wall Street Journal reports.

NFT of the Web

Tim Berners-Lee, who developed the World Wide Web, is auctioning its original source code as a non-fungible token, Reuters reports.

23andMe on the Nasdaq

23andMe's shares rose more than 20 percent following its merger with a special purpose acquisition company, as GenomeWeb has reported.

Science Papers Present GWAS of Brain Structure, System for Controlled Gene Transfer

In Science this week: genome-wide association study ties variants to white matter stricture in the brain, and more.