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Scientists corrects disease-causing gene mutation in human embryos

Staff Writer |
A team of researchers has successfully corrected a disease-causing gene mutation in human embryos by using a gene-editing tool, stopping it from passing to future generations.

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The new method uses the gene-editing tool CRISPR to target a mutation in nuclear DNA that causes hypertrophic cardiomyopathy, a common genetic heart disease condition which can cause sudden cardiac death and heart failure.

Hypertrophic cardiomyopathy affects an estimated one in 500 people and can lead to heart failure and sudden death.

Researchers worked with healthy donated human oocytes (cell) in ovaries that form an ovum] and sperm carrying the genetic mutation that causes cardiomyopathy. Embryos created in this study were used to answer pre-clinical questions about safety and effectiveness.

"Every generation would carry on this repair because we've removed the disease-causing gene variant from that family's lineage," said senior author of the report Shoukhrat Mitalipov, who directs the Center for Embryonic Cell and Gene Therapy at Oregon Health & Science University.

CRISPR, which stands for clustered regularly interspaced short palindromic repeats, holds promise for correcting mutations in the human genome to prevent genetic disease.

The gene-editing technique, done in concert with in vitro fertilization (IVF), could provide a new avenue for people with known heritable disease-causing genetic mutations to eliminate the risk of passing the disease to their children.

It could also increase the success of IVF by increasing the number of healthy embryos.

The study is "the first to show successful and efficient correction of a disease-causing mutation in early stage human embryos with gene editing," said Dr Yalda Jamshidi from St George's, University of London.

However, the team also noted that genome editing approaches must be "further optimized" before moving to clinical trials.


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