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04 August 2017, 12:29 | Audrey Hill
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Altering human heredity? In a first, researchers safely repaired a disease-causing gene in human embryos, targeting a heart defect best known for killing young athletes - a big step toward one day preventing a list of inherited diseases.
The researchers concentrated on hypertrophic cardiomyopathy (HCM) a heart muscle disease that affects about 1 in 500 people and can result in sudden death.
But the newstudy, published in Nature, suggests that CRISPR might work as an aid to fertility clinic screening for risky inherited diseases, relying on a previously unknown ability of human embryos to swiftly fix their genes. The possibility of scientifically modifying humans - the object of some of the most twisted research by the Nazis - had re-surfaced after the huge strides in gene research and reproductive technology made over the last few decades. The latest research team reports it achieved "efficiency, accuracy and safety" with the approach.
Federal agencies also ban funding of research that ultimately leads to the destruction of human embryos in research.
Critics of the study were quick to allege that the research team - whose work can not be taken much further in the United States given legal limitations - had already pushed the boundaries too far.
In the study, sperm from a man who carries a mutation in the MYBPC3 gene was injected into eggs from women with healthy copies of that gene.
Despite the team's stated goal of working towards disease eradication, much of the attention around CRISPR has focused on the potential for using the technique to create so-called "designer babies" - humans with higher-than normal levels of intelligence or athletic abilities.
However, the technology was only successful on 50 percent (projected up to 74%).
Even in the 28% of embryos where CRISPR did not correct the defective sperm gene, it still erased it. In the remaining 27.6% embryos, the cellular cut-repairing mechanism introduced some unwanted insertions or deletions near the cut.
Researchers have learned to avoid patchwork embryos by editing genes during fertilization instead of after. "Moreover, if such embryos were to grow up, as will doubtless occur in the future, there are likely to be unintended effects from modifying their genes", Fr. Pacholczyk continued.
It's now illegal in the USA and many countries to implant a gene-edited embryo into a mother's womb to produce a baby. And if used universally, it could eliminate many rare genetic diseases.
None of the embryos were permitted to develop beyond five days after conception. But the prospect of editing a child's DNA before they are born remains very controversial.
Instead, the newly forming embryos made their own ideal fix without that outside help, reported Oregon Health & Science University senior researcher Shoukhrat Mitalipov.
Agus also noted that in the experiments, the technique proved to be very precise in targeting the defective gene, leaving the rest of the embryo's DNA "untouched". He and Kahn were part of a National Academy of Sciences report earlier this year that said if germline editing ever were allowed, it should be only for serious diseases with no good alternatives and done with strict oversight.
Asked about critics of genetic manipulation, he said his work has nothing to do with the creation of "designer babies" through genetic manipulation to give the children traits desired by the parents.
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