spinal muscular atrophy

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.

A new analysis examines the gender gap among paper authors in the sciences and says it may take decades or more to close.

Researchers have uncovered signals of selection that may enable the Bajau people to free five hundreds of feet deep, Reuters reports.

In Science this week: paternally inherited cis-regulatory structural variants in autism, and more.

A new report outlines issues facing the implementation of personalized medicine in the UK, the Independent reports.