CHARGE Syndrome News and Research

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New compound could alleviate neurological symptoms of CHARGE syndrome

CHARGE syndrome is a rare genetic disorder affecting about 1 in 10,000 newborns. It can lead to neurological and behavioural disorders for which no treatment is currently available.

28 Apr 2021

Research: Tumor-suppressing protein linked with CHARGE syndrome

CHARGE, which affects 1 in 10,000 babies, is an acronym whose letters stand for some of the more common symptoms of the condition: coloboma of the eye, heart defects, atresia of the choanae, retardation of growth and/or development, genital and/or urinary abnormalities, and ear abnormalities and deafness.

4 Aug 2014

Genome sequencing promises to identify rare mutations that give rise to autism

An international consortium, consisting of Autism Speaks, Duke University School of Medicine, The Hospital for Sick Children of Toronto, BGI and other institutes, has investigated the genetic variants in 32 families with Autism Spectrum Disorder (ASD).

12 Jul 2013

Scientists focus on the role of mutated adult neural stem cells play in human diseases

CHARGE syndrome* is a severe developmental disorder affecting multiple organs. It affects 1 in 8500 newborns worldwide. The majority of patients carry a mutation in a gene called CHD7. How this single mutation leads to the broad spectrum of characteristic CHARGE symptoms has been a mystery.

6 Jul 2013

Whole genome sequencing could become prenatal standard of care

Whole genome sequencing of the DNA code of prenatal samples accurately and quickly identifies the location of chromosomal abnormalities, and could become a prenatal standard of care, researchers propose.

9 Nov 2012

Studies provide first clues of balanced de novo chromosomal rearrangements

Whole genome sequencing of the DNA code of three prenatal samples provided a detailed map of the locations of their chromosomal abnormalities in 14 days, scientists reported today at the American Society of Human Genetics (ASHG) 2012 meeting in San Francisco.

8 Nov 2012

RNAO announces winners of 2010 Awards for Excellence in Health-Care Reporting

The Registered Nurses' Association of Ontario is pleased to announce the recipients of this year's Awards for Excellence in Health-Care Reporting.

9 Apr 2010

Study sheds new light on cancer metastasis

Some cells are natural rule-breakers. Neural crest cells for example, not only migrate throughout the body during development (most cells are more selective in their wandering), they are also more developmentally flexible than their predecessors (a no-no for nearly all cell types).

4 Feb 2010