fragile X syndrome

Researchers used the approach to develop an assay to detect above-threshold triplet repeats in Huntington's disease, but also highlight a variety of other applications.

Under the collaboration, Asuragen will develop diagnostic kits for analyzing repeat sequences using Thermo Fisher's 3500 Dx Series Genetic Analyzer CS2 instrument.

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.

The firm, which makes both neurogenetic and oncology diagnostics, also provided updates on its market strategies and menu outlook.

London Health Sciences Center researchers published a study validating the accuracy of the method as a potential screening test for symptomatic male patients.

A suite of assays published today in The Journal of Molecular Diagnostics tackles issues with genetic testing, making it more robust and affordable. 

A team at UC Davis is developing a method to sequence the FMR1 gene on the PacBio platform and determine its methylation status at the same time.

At Scientific American Mind, a family shares its story of fragile X syndrome.

NEW YORK (GenomeWeb) – Emory University researchers have received a roughly $8 million grant from the National Institutes of Health to fund a study that will use whole-genome sequencing to investigate modifier genes that predispose people with FMR1 gene mutations to specific clinical outcomes.

NEW YORK (GenomeWeb) — Scientists from Asuragen and the New York Institute for Basic Research in Development Disabilities have published research that they claim provides the most compelling evidence to date for a relationship between AGG sequence interruptions and the risk of triplet repeat expa

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Researchers find that a personalized medicine approach could help people who experience pain while taking statins, New Scientist reports.

US National Science Foundation is continuing its responsible research conduct training policy despite its flaws, ScienceInsider reports.

A CRISPR-themed meeting explored how the tool could and should be used, Wired reports.

In Science this week: database of proteins' effects on cancer, targeted error correction sequencing, and more.