Unpublished paper surfaces about the Chinese genome-edited babies

The MIT Technology Review has released excerpts of unpublished research from Dr He Jiankui's manuscript that ignored ethical and scientific industry standards when creating the world's first genome-edited twins.

His paper, 'Birth of Twins After Genome Editing for HIV Resistance' contains a litany of flaws, omissions, deceptions and egotistical claims, according to MIT.

It also reported that the journals Nature and JAMA rejected the manuscript for publication largely on ethical grounds.

The paper made expansive claims of a 'medical breakthrough' that can control the HIV epidemic. Experts in various fields have contested this. 'That this is a plausible way to control the HIV epidemic seems ludicrous,' said Hank Greely, professor of Law at Stanford University.

The CRISPR/Cas9 technique can be used to edit specific stretches of genetic code. It has the potential to correct mutations at precise locations in the human genome to treat genetic causes of disease. Dr He Jiankui's team attempted to reproduce a known mutation in a gene called CCR5, aiming to generate humans resistant to HIV.

Dr Rita Vassena, Scientific Director of assisted reproduction company Eugin Group said, 'Approaching this document, I was hoping to see a reflective and mindful approach to gene editing in human embryos…unfortunately, it reads more like an experiment in search of a purpose, an attempt to find a defensible reason to use CRISPR/Cas9 technology in human embryos at all costs.'

Scientists have now said that the genome edits made in the study were not the same as the mutations that confer natural HIV resistance and could have created 'off-target' mutations that may lead to health problems.

Dr Fyodor Urnov, a genome-editing scientist at the Innovative Genomics Institute, University of California, Berkeley said, 'The claim they have reproduced the prevalent CCR5 variant is a blatant misrepresentation of the actual data.'

He Jiankui's researchers also ignored evidence that the genome edits were not uniform. Data shows clearly, in one excerpt containing chromatograms of DNA sequences, that the embryos were mosaic. This means different cells in the embryos showed different edits. Some could have a full edit, others partial, some none-at-all. Therefore, some parts of the twins' bodies may still be fully vulnerable to HIV.

Another flaw is that the researchers didn't test whether HIV immunity worked before creating the twins and it is also proving difficult to uncover details about the research.

It is also unclear whether the research went through a proper ethics review. A research plan was registered with the China Clinical Trial Registry but the public registration occurred only after the twins were born.

The fertility doctors and obstetricians may not have been aware they were helping create the first genome-edited babies. A number of scientists were thanked by He Jiankui in the paper, yet now claim to no prior knowledge of his work or its extent. Furthermore, the hospital that is cited as where the experiment took place is denying it happened there.

Dr Kiran Musunuru, Associate Professor of cardiovascular medicine and genetics at the Perelman School of Medicine, University of Pennsylvania concluded that 'It's time for the scientific community to fully understand what happened…and to avoid stumbling down a path toward further ill-starred experiments with clinical germline gene editing'.