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Zebrafish provide insights into a rare human disease
Aug 08, 2016

Scientists from the Delhi-based CSIR-Institute of Genomics and Integrative Biology are a step closer to bringing hope to children born with a rare disorder — CHARGE syndrome — if the results seen in zebrafish are reproducible in humans.

What is Charge syndrome:

About 1 in 20,000 people in the world, and an estimated 50,000 in India alone, are born with CHARGE syndrome — multiple life-threatening problems such as deafness and blindness, heart defects, genital problems and growth retardation and facial bone and nerve defects that cause breathing and swallowing difficulties. There is a high death rate in the very first year in children born with CHARGE.


How it develops:

A mutation in the CHD7 gene is responsible for 60-70 per cent of all CHARGE defects. The expression of the gene peaks in the early stages of embryo development, starting from 2-4 cells.

Using zebrafish to better understand the CHARGE syndrome

Following fertilization, zebrafish embryos are transparent. This allows scientists to observe the inside of the embryo and watch in real time how various organs develop. Since most organs begin forming in the first 24-36 hours and are fully formed within five days, it allows researchers to study the development of an organism from egg to maturity.=" An RNA injected into a one-cell embryo interferes with the making of the CHD7 protein, thus producing a zebrafish embryo with very similar problems as the human babies with CHARGE syndrome

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