Sickle cell disease causes a patient's cells to  take on an abnormal C shape that can cause blockages and lead to stroke and organ damage, among other complications.

In a U.S. First, Doctors Use Gene-Editing Crispr Tool to Treat a Genetic Disorder

Sickle cell disease causes a patient’s cells to take on an abnormal C shape that can cause blockages and lead to stroke and organ damage, among other complications. Visual: Stocktrek images/Getty

Doctors in the U.S. have used the gene-editing tool Crispr to treat a patient with a genetic disorder for the very first time. But researchers caution that the procedure — done as part of an ongoing trial for sickle cell disease — is still experimental and that its use must be weighed against other treatment options.

Sickle cell disease affects up to 100,000 Americans and is most common in those of African descent. According to the Centers for Disease Control and Prevention, a genetic defect in a patient’s hemoglobin, the blood protein that carries oxygen, causes cells to become “hard and sticky,” and take on an abnormal sickle shape that can cause blockages and lead to stroke and organ damage, among other complications.

Currently the only cure for sickle cell disease is a bone marrow or stem cell transplant, but many patients are unable to find a suitable donor. With the Crispr technique, which involves using an enzyme to edit DNA at a precise location, scientists can alter a patient’s own blood cells to make them produce a hemoglobin variant normally only made by fetuses and babies for a short time after birth. Following chemotherapy to wipe out any existing defective cells, the new cells can then be returned to the patient in the hopes that they’ll treat the disease.

Though the technique has shown promise in earlier primate studies, according to results published last month in the journal Science Translational Medicine, for 34-year-old Victoria Gray, the first human volunteer, it will likely take months to determine whether the altered cells are performing as predicted. Having lived with pain from sickle cell disease throughout her life, Gray told NPR the treatment “gives me hope if it gives me nothing else.”

The trial is being jointly conducted by Switzerland-based Crispr Therapeutics and Vertex Pharmaceuticals, which is headquartered in Boston, and will ultimately enroll up to 45 participants. While other pharmaceutical companies are taking varying approaches to treat the disease, including different gene therapies, high prices remain an issue. The Crispr approach, researchers say, requires fewer cells and therefore could be more cost-effective.

Human trials of Crispr have ramped up this year. Doctors at the University of Pennsylvania tried the technique to treat cancer patients, while Massachusetts Eye and Ear Infirmary in Boston is currently recruiting for a study to edit cells in the retinas of patients with inherited blindness. Still, U.S. approval can be slow-moving compared to other countries. Many more cancer trials are underway in China, though the use of Crispr to edit the genomes of twin girls there last year caused international outcry and led the World Health Organization last week to call for any experiments that would lead to more gene-edited babies to be halted.

Also in the news:

• Doctors at the University of California in San Francisco have found a way to successfully extract a person’s speech directly from their brain, according to a study published on Tuesday in the journal Nature Communications. The newly-developed brain-reading software is the first to be able to glean a person’s intention to say certain words from brain signals and turn this into text fast enough to match the pace of a normal conversation. The project, funded by Facebook, hopes to allow paralyzed people to verbalize their words more fluidly, though additional research must be conducted in order for the software to be able to read more than just pre-learned sentences. The groundbreaking technology relies upon neurosurgically implanted electrodes which enable brain signals to be read and analyzed. “It’s important to keep in mind that we achieved this using a very limited vocabulary,” researcher David Moses told the Guardian, “but in future studies we hope to increase the flexibility as well as the accuracy of what we can translate.” (The Guardian)

• Jeffrey E. Epstein, the well-connected financier, convicted sex offender, and recently indicted sex trafficker, was also something of a scientific dilettante, according to a report this week in The New York Times. Chief among Epstein’s scientific fixations, according to The Times, was a desire to “seed the human race” with his own DNA — a scheme that Epstein apparently shared openly with a motley collection of scientists and researchers he lured into his orbit over the years, many of them drawn by the potential of funding. At exclusive dinner parties, conferences, and salons, Nobel laureates and other scientific luminaries recalled being audience to Epstein’s eugenic musings, and while there was no indication that Epstein ever took steps to carry out his plan — which nonetheless was fleshed-out enough to include a locale (his sprawling New Mexico ranch) and a basic choreography (20 women at a time were to be impregnated) — the fantasy reflected the disgraced investor’s wider fascination with transhumanism and other efforts to “improve” the human race. Among Epstein’s other interests: The hunt for “a mysterious particle that might trigger the feeling that someone is watching you,” and the speculative field known as cryonics, which involves freezing the human body in the hope of being revived far in the future — a tall order, by most experts’ reckoning. According to The Times, Epstein was most interested in preserving his head and his penis. (The New York Times)

• A comprehensive new study out of the University of Cambridge reaffirms what was once a point of consensus among scientists for many decades: A healthy placenta, like a healthy womb, is sterile. If true, then fetuses develop in a bacteria-free environment, strengthening the idea that babies are first exposed to microbes at birth. This long-held belief was challenged in 2014 when a team of researchers from Baylor College of Medicine in Texas detected a small number of microbes similar to those found in human mouths in healthy placentas. Lead by Kjersti Aagaard, the research sparked a debate about how and when humans first acquire a microbiome that contributes to a functioning immune system. The latest study on placental tissues involved samples from more than 500 women and used multiple techniques to guard against false positives. The research concludes that Aagaard’s and subsequent studies that have detected bacteria in the placenta were actually contaminated. In an accompanying commentary, Nicola Segata from the University of Trento writes, “This finding provides strong evidence that there is no functional microbiota in the placenta.” (The Atlantic)

• More than 11 billion tons of Greenland ice melted into the surrounding oceans this Wednesday, according to the Danish Meteorological Institute, driven by a record heat wave that moved into the planet’s Arctic regions from Europe. According to Danish scientists, the Greenland ice sheet has dropped by more than 200 billion tons in the month of July alone. Researchers warned earlier this year that if ice melt from Greenland proceeds into the oceans at the current rate, it alone will raise global sea levels by up to 13 inches by the end of the century. Researchers also expressed concern the accelerated melting in Greenland was another indicator that earlier predictions on the pace of global climate change, even those made by the Intergovernmental Panel on Climate Change (IPCC) appear to have underestimated the speed by which the planet is being altered. Ice spread is at record lows this year, both in the Arctic and the Antarctic, according to the U.N. World Meteorological Organization. (The Associated Press)

• Spotting blindfolded mountain goats dangling from slings and being shuttled away via helicopter would likely be enough to give the average visitor to Washington state’s Olympic National Park pause — and possibly even convince them they were experiencing some sort of altitude-induced hallucination. But the scene, however surreal, is part of the state’s extensive effort to reduce the park’s population of invasive mountain goats. The species, introduced to the region by Alaskan hunters in the 1920s, has long wreaked havoc on native alpine vegetation and become dangerously comfortable around humans. (One hiker died after being mauled by a mountain goat in 2010.) Roughly 115 goats were airlifted last year, many of them relocated to the North Cascades Range to help rebuild native goat populations. And state and local wildlife agencies have spent nearly half a million dollars on the project this year, though it remains to be seen if the transplanted goats will breed in their new habitat. Despite the cost, the challenge of tracking down the goats, and the stress caused to the animals, wildlife specialists say the effort will be worth it if the ecosystem’s natural balance can be restored. (High Country News)

• And finally: If an invention has no human inventor, is it patentable? An international team of patent attorneys has put that question to the test, filing applications to U.S., U.K., and European patent offices on behalf of “Dabus,” an artificially intelligent machine. The team claims that Dabus conceived new designs for stackable, easy-to-grip food containers and a flashing light warning system. Challenging existing rules that restrict inventorship to individuals and “natural persons,” the team, led by University of Surrey law professor Ryan Abbott, argues that AI should be recognized as the inventor and the AI’s owner should be recognized as the patent’s owner. The legal debate carries echoes of the high-profile copyright dispute over the 2011 “monkey selfie,” taken by the then-seven-year-old macaque Naruto. Last year, a U.S. appeals court ruled that Naruto held no copyright claim, and a similar outcome seems likely in the Dabus case. A report published just this year by the European Patent Office concluded that the current legal framework was “suitable for addressing the inventorship … of inventions involving AI,” and that artificially intelligent machines should be considered “tools.” (Financial Times)