neuropathy | GenomeWeb

neuropathy

Baylor researchers turned to exome sequencing to uncover novel peripheral neuropathy-linked mutations and an increased burden of rare variants in patients.

Researchers at St. Jude and elsewhere identified a promoter SNP associated with peripheral neuropathy in vincristine-treated children with acute lymphoblastic leukemia.

The partners aim to develop a biobank of induced pluripotent stem cells for the group of neuropathy disorders and then to develop personalized drug therapies.

Quest Diagnostics has launched a next-generation sequencing-based panel to diagnose Charcot-Marie-Tooth disease, as well as a handful of Sanger-based tests for other rare neurological disorders, which were developed through its Athena Diagnostics business.

Quark Pharmaceuticals last week announced “favorable” interim results from a phase I trial of its siRNA-based ocular neuroprotectant QPI-1007, showing the drug may improve the vision of patients with a rare eye condition.

Through an exome sequencing and bioinformatics study involving individuals from four families, an international research group has tracked down mutations in the DNA methyltransferase gene DNMT1 that appear to cause hereditary sensory neuropathy.

The Phase I study is being conducted in the US and Israel with two patient subgroups — stratum I, which includes patients with chronic nerve atrophy and began dosing in March; and stratum II, which is enrolling patients with recent onset of NAION.

The researchers from both studies said that their approaches will be useful for studying not only Mendelian diseases, but also more complex diseases.

Researchers from the Baylor College of Medicine and elsewhere sequenced the whole genome of an individual with Charcot-Marie-Tooth disease, uncovering two previously unidentified recessive mutations behind the condition.

Although Quark initially expects to market the drug as a treatment for a rare condition known as non-arteritic anterior ischemic optic neuropathy, it hopes it can eventually develop it as a glaucoma treatment.

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The Wall Street Journal reports that National Institutes of Health Director Francis Collins' response to contamination concerns at the agency might have delayed care.

The final revision of the Common Rule doesn't include the proposed change requiring consent for leftover biospecimens.

The first Reproducibility Project: Cancer Biology papers show mixed results.

In Nature this week: mobile phone-based targeted DNA sequencing, and more.