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developmental disorder

Researchers also plan to launch a prospective randomized clinical trial to test the effectiveness of whole-genome sequencing compared to the standard of care.

NEW YORK (GenomeWeb) – Congenica and the UK Northern Health Science Alliance today announced a partnership to develop diagnostic tools aimed at patients with genetic ailments.

NEW YORK (GenomeWeb News) – A subset of genomic disorders stemming from rare copy number variants involve one or more additional CNVs that combine to contribute to the variability observed in these conditions, according to a study appearing online last night in the New England Journal of Medi

A recent study by researchers at Cincinnati Children's Hospital Medical Center has demonstrated that SNP microarrays can identify regions of homozygosity that aid in clinical diagnosis as well as identify instances of close parental relatedness.

Study leader Nigel Carter said that the project will use Agilent Technologies' comparative genomic-hybridization arrays and Illumina's whole-genome SNP-genotyping arrays to gather genetic information on enrolled patients.

The Wellcome Trust Sanger Institute and the National Health Services' Clinical Genetics Services will analyze the genomes of thousands of children with developmental disorders and birth malformations in the hope of developing diagnostics.

The institute will give $5 million in 2011 for research into how epigenetics affects development of mental disorders.

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A UK woman is suing three National Health Service Trusts for not telling her about her father's Huntington's disease diagnosis, the BBC reports.

LiveScience reports that a novel mutation in the LPL gene was uncovered in three siblings with very high triglyceride levels.

The president of Nankai University is embroiled in a data manipulation scandal, the South China Morning Post reports.

In PNAS this week: cytotoxic CD4 T cell signature in supercentenarians, evolutionary history of beetles, and more.