neuropathy | GenomeWeb


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.


In Nucleic Acids Research this week: ProTraits includes genetic, phenotypic data on bacteria, archaea; Candida albicans assembly 22; and more.

The Wall Street Journal reports that researchers are looking beyond Cas9 for CRISPR editing.

Familial DNA searches in criminal cases are winning over some critics, the Los Angeles Times reports.

In PNAS this week: miR-515 levels higher in women with preeclampsia, horizontal gene transfer in parasitic plants, and more.