When He Jiankui shocked the world last week by declaring he had successfully altered the genetic code of two babies, he was met with overwhelming skepticism and condemnation from the scientific community. Now, his case has gotten weirder. The South China Morning Post reports that the infamous scientist has gone missing.

Officials at He's now-former university, the Shenzhen-based Southern University of Science and Technology, denied claims that He had been detained by the Chinese government. “Right now nobody’s information is accurate, only the official channels are,” the official tells the SCMP.

On November 26, He Jiankui released a series of YouTube videos announcing that he had made science fiction real—using the genetic editing tool CRISPR, he had successfully edited the genetic code of two twin baby girls to make them more resistant to the HIV virus. He had not allowed any independent scientific inspection of his work, choosing to announce his breakthrough through mainstream journalism and social media.

After the highly unconventional announcement, He's work has come under intense criticism in the realms of both ethics and pure science. Speaking at the International Human Genome Editing Summit, He falsely claimed that his results had "leaked," although their release had been part of a carefully coordinated media release.

During a 20-minute talk with a question and answer period, He attempted to justify his study to his peers. Presenting himself as a champion working against discrimination of those with HIV, He said that he feels "proud" of his work which targeted CCR5, a known pathway for the virus.

The scientific community disagreed on both purely scientific as well as moral grounds. Several scientists who observed He's speech began challenging his work with the two girls, known as Lulu and Nana. One of the most thorough breakdowns of He's work comes from Gaetan Burgio of Australia National University.

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OK there are a lot to unravel in this He Jankui talk and panel discussion at the #GeneEditSummit on #CRISPR in human embryos leading to the birth of the twins Lulu and Nana. -> Let's analyze the science, the ethics and controversies -> thread pic.twitter.com/3qOCC6IhvJ — Dr Gaetan Burgio, MD, PhD. (@GaetanBurgio) November 28, 2018

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The problem here is the WGS method used is insufficient to rule out large deletions/mosaicism and allele dropout . The technique seems to cover the bases but I am a concerned here how on-target effects were undetected -> not good enough pic.twitter.com/30Vja0r90D — Dr Gaetan Burgio, MD, PhD. (@GaetanBurgio) November 28, 2018

"If you look into details," Burgio tells Popular Mechanics over the phone, "what they meant to target, they haven’t targeted. They targeted CCR5, which is correct, but they haven’t targeted the region known to show resistance to HIV." Burgio says that its "likely" that at least one of the children has no additional resistance to HIV at all.

A particular failure of He's, according to Burgio, was not recognizing what's known as the "allele mosaic." In genetics, a mosaic refers to two or more cell populations with differing genotypes (pieces of genetic material) in one individual. Alleles are crucial parts of our genetic code, variations on DNA that allow for unique traits like eye color. Like eye color, CCR5 has a wide variety of potential variations. Ignoring this mosaic while working on genes could end up in any number of results, ranging from the neutral to the deeply harmful.

He's lack of transparency means that "we don’t know what has been done to the genes" of the two infants, Burgio says.

There also appear to have been significant problems with an important part of any study this risky—informed consent of the parents. The consent form that patients signed has come under stern criticism from other scientists, comparing it to a "business form, of the kind that a company might use when subcontracting" while downplaying any risks of the procedure.

"If this was a mouse," Burgio says, "I would not be concerned. But we’re talking about kids." When asked about He's motivations, Burgio felt sure that He wanted "to be first" in making the discovery. When asked about the possibility that He was genuine in his concern for HIV patients, Burgio laughed, noting that there are far safer ways to treat the disease.

Since He's appearance at the summit, he has not been seen. His university, where He has apparently been on leave since February, has disavowed knowledge of his work. A graduate of Rice University in Texas, He found a collaborator in a professor from the school, Michael Deem. Rice has released a statement declaring that the work "violates scientific conduct guidelines and is inconsistent with ethical norms of the scientific community and Rice University.”

Source: SCMP

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