NEW YORK (GenomeWeb) – While attempting to diagnose individuals with an unusual neuromuscular and skeletal condition, researchers from the US and Canada have detected a role for the ion channel PIEZO2 in some aspects of normal touch or force-sensing functions.

Using exome sequencing on two individuals with similar, difficult-to-diagnose conditions, the team identified recessive, compound heterozygous mutations in the PIEZO2 gene that appeared to contribute to symptoms such as vibratory touch perception, motor impairments, progressive scoliosis, and other skeletal deformations.

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The UK's Human Fertility and Embryology Authority calls for consumer genetic testing companies to warn customers that testing could uncover family secrets, according to the Guardian.

The New York Times reports that United Nations delegates have been discussing how to govern the genetic resources of the deep sea.

Researchers have transplanted edited cells into mice that appear to combat cocaine addiction, New Scientist reports.

In PNAS this week: analysis of proteolytic enzymes secreted by circulating tumor cells, phylogenetic study of Fv1 evolution, and more.

Sep
20
Sponsored by
St. Jude Children's Research Hospital

This webinar will provide an overview of how St. Jude Cloud, a public repository of pediatric cancer genomics data and analysis tools, is impacting cancer research.

Oct
02
Sponsored by
Roche

In the last few years several molecular testing methodologies — such as immunohistochemistry, PCR, and sequencing — have been approved by the US Food and Drug Administration to aid in the management of patients with lung cancer.  

Oct
04
Sponsored by
Agilent

This webinar will discuss the use of new software tools to support the diagnosis of CTFR-related disorders using next-generation sequencing.

Oct
10
Sponsored by
Philips Genomics

This webinar will provide a first-hand look at how the Dana-Farber Cancer Center is adapting its oncology care strategy in light of the rapidly evolving molecular landscape.