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.
CNN reports that researchers have tied a new variant to opioid addiction risk.
Organoids derived from patients' tumors may help determine what chemotherapy treatment patients would benefit from, according to New Scientist.
An initiative from GenomeAsia 100K hopes to increase the number of South Asians in genetic research, according to NBC News.
In Science this week: genomic analysis of ancient and modern horses indicates population turnover, and more.