neurological disorders

The firm, which specializes in neurogenetics, recently launched several diagnostic RNA sequencing tests and is working on a methylome test for imprinting disorders.

PerkinElmer Genetics will provide clinical whole-genome sequencing, data interpretation, and diagnostic reports to IDG for patients with neurological disorders.

A study focused on rare CNVs unearthed a subset of Tourette cases affected by deletions in the NRXN1 gene or duplications in the CNTN6 gene. 

The pediatric health system will use RPRD's pharmacogenomics testing platform in its cancer and blood disorder clinic and its neurology/psychology practice.

Metagenomic sequencing may be a good tool to improve the diagnostic rate because it is such a broad approach and does not require "guessing" at the potential pathogen. 

Researchers identified Neanderthal alleles associated with human conditions using genotypic and phenotypic information in health records for more than 28,000 individuals. 

The results showed that syndromic forms of autism are more likely when children have alterations of genes in the mGluR pathway.

The life sciences company can now offer its genetic tests in all 50 states in the US, as well as Canada and several other countries. 

TwoXar will use the funds to expand its engineering and commercial teams and  support partnerships focused on drug candidates for metabolic and neurological diseases.

The company's platform offers space and computational tools for exploring, sharing, and storing genomic data in the context of genetic disorders.

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Rare gene mutations are guiding the search for drugs to manage chronic pain without opioids, according to CNBC.

The new Francis Crick Institute building can get too noisy for some researchers to concentrate, according to the Guardian.

CBS News reports that there are still many vacancies at the White House Office of Science and Technology Policy, but that it's uncertain whether they will be filled.

In Nucleic Acids Research this week: pipeline to analyze and visualize bacterial genomes, database of global set of human genomes, and more.