Whitehead Institute researchers were able to restore nearly full FMR1 expression in a fragile X syndrome iPSC cell line.
Early research has shown the open-source ExpansionHunter software to be highly accurate in identifying repeat expansions that indicate rare diseases.
An Australian couple settles with IVF clinic after their sons inherit disease the mother was told she wasn't a carrier for, the Sydney Morning Herald reports.
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.
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.
In an against-all-odds twist, a researcher studying exceeding rare FOXG1 mutations discovers her daughter has the syndrome.
An effort by Genomics Medicine Ireland is creating a database of diseases based on the genomics of people in Ireland. It now is looking into the possibility of including Scotland in its work.
In recent weeks, the direct-to-consumer genetics firm has rolled out a health hub where customers can share information concerning 18 common health conditions.
In PLOS this week, new genes associated with prostate cancer risk, genetic patterns in M. bovis, and more.