fragile X syndrome

Asuragen's technology will be used in the Early Check study to identify children with rare health conditions, such as fragile X syndrome, before symptoms appear.

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.

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Consulting company McKinsey says diagnostics companies will have to combine genomic data analysis, electronic medical records, effective reimbursement strategies, and regulatory compliance in order to win.

A new report has found that researchers in Africa are still heavily dependent on funding from organizations in the US, Europe, and China, Nature News says.

An article in The Atlantic argues that the progress being made in science isn't keeping pace with the money and time being spent on research.

In Science this week: a CRISPR screen identifies sideroflexin 1 as a requisite component of one-carbon metabolism, and more.