spinal muscular atrophy

The program is open to anyone in the US or in Puerto Rico who is suspected of having SMA or needs confirmation of the disease via genetic testing.

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

Australian researchers call for carrier screening for cystic fibrosis, fragile X syndrome, and spinal muscular atrophy, Cosmos reports.

Carrier screens for cystic fibrosis, fragile X syndrome, and spinal muscular atrophy detected carrier status in one in 20 individuals and led to diagnoses in seven pregnancies.

Under a five-year NIH grant, the researchers will evaluate whether earlier diagnosis of fragile X and SMA leads to earlier intervention and improved outcomes.

Couples can now buy cystic fibrosis and spinal muscular atrophy carrier screening tests through Amazon, though a doctor will have to approve the order. 

NEW YORK (GenomeWeb) – Natera and the Mount Sinai Genetic Testing Laboratory today announced a partnership to offer Natera's genetic carrier screening test.

NEW YORK (GenomeWeb News) – Genetic testing firm Counsyl has partnered with ARUP Laboratories to offer pre-pregnancy and pregnancy testing for more than 100 recessive genetic disorders.

By Adam Bonislawski
The Spinal Muscular Atrophy Foundation said this week that it has developed a 27- protein plasma biomarker panel for use in SMA research.

A grant in 2012 will provide $1.8 million for research focused on biomarkers for the genetic defect.

An Australian-led team has generated a draft genome assembly of the invasive cane toad in hopes it will help in population control, the Sydney Morning Herald reports.

The New York Times reports that the US Department of Defense has implemented about half the recommendations made to improve safe handling of dangerous agents.

In PLOS this week: approach for teasing out archaic introgression in human genomes, immune transcription features in HCV infection, and more.

Stat News reports that Maryland is promoting itself to the biotech industry with a mobile billboard.