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.
Sometimes genetic tests give inconclusive results and provide little reassurance to patients, the Associated Press reports.
Vox wonders whether gene-editing crops will be viewed similarly as genetically modified organisms of if people will give them a try.
In Science this week: research regulation and reporting requirement reform, and more.
With H3Africa, Charles Rotimi has been working to bolster the representation of African participants and African researchers in genomics, Newsweek reports.