Breaking news and analysis from the world of science policy

  • Drug tailored to one girl with brain disease paves way for similar customized treatments

    Mila Makovec

    Mila Makovec (right) has had fewer seizures since she began to receive a drug tailored to the mutation that causes her brain disease.

    Julie Afflerbaugh

    After their apparent success treating a young girl with a drug tailored to counteract a genetic mutation that had given her a usually fatal brain disease, the researchers behind the innovative strategy have this week laid out criteria for similarly helping more sick children. But the U.S. Food and Drug Administration (FDA) is cautioning that such one-off therapies need to be thoroughly considered before moving ahead and carefully evaluated, in part because desperate parents sometimes perceive improvements from a treatment that are not real.

    In early 2017, after hearing of 6-year-old Mila Makovec, who had a condition called Batten disease that progressively damages brain cells and leads to death by adolescence, neurologist Timothy Yu of Boston Children’s Hospital and co-workers offered to try to help. They quickly designed and had a company synthesize a strand of RNA intended to mask a mutation in a gene called CLN7, which over time was causing Mila’s brain cells to accumulate waste and die. They first showed the potential drug, an antisense oligonucleotide that they dubbed “milasen,” could correct the CLN7 defect in cells cultured from her skin. With FDA approval, in January 2018 they then began to infuse the RNA into her spinal fluid. The team soon saw improvements in Mila’s condition, such as fewer and shorter seizures, Yu reported at a meeting 1 year ago.

    Today, in a paper describing the case in The New England Journal of Medicine, Yu’s team reports that although Mila has continued to lose brain volume since treatment began, her seizures are still suppressed and her scores on neurological tests have mostly stabilized or improved. Her case is widely seen as a possible model for treating other individuals with certain disease mutations with a custommade oligonucleotide drug. Yu estimates that could include 10% of all cases of inherited central nervous system diseases.

  • One billion people, many in poor countries, have major vision problems that could be fixed

    a man standing outside

    A man blinded by trachoma pauses in Laikala, Tanzania. The disorder is caused by a bacterial infection that scars the eyelid.

    Joe McNally/Getty Images

    At least 1 billion people live with moderate to severe vision impairment, such as glaucoma or age-related far-sightedness, that could have been prevented or could be corrected with glasses, cataract surgery, or other means, says a report released Tuesday by the World Health Organization (WHO).

    The burden is disproportionately high in women and specific populations, including people in rural areas and low- and middle-income countries. Poor residents of sub-Saharan Africa and South Asia have rates of blindness eight times higher than people in high-income countries, WHO says.

  • NIH marquee awards for ‘high risk, high reward’ projects skew male—again

    National Cancer Institute building

    Administrators at the National Institutes of Health’s Building One in Bethesda, Maryland, say they want more female and minority applicants for the prestigious “high risk, high reward” program.

    National Cancer Institute

    The U.S. National Institutes of Health (NIH) on 1 October announced the winners of an annual crop of prestigious “high risk, high reward” (HRHR) awards. The plum awards provide generous, multiyear funding to a select group of scientists—101 this year—doing outside-the-box research that might not survive standard peer review. But in past years, the awards have been scrutinized because of the paucity of women among awardees.

    For women, this year’s harvest was a mixed bag. For three of the four types of HRHR awards, women won in numbers that met or exceeded their representation in the applicant pool. However, that representation was meager: Eighteen percent to 38% of the applicants for these four awards were women, although women have earned more than 50% of U.S. Ph.D.s in biological sciences in every year since 2008. What’s more, in the award that is arguably best positioned to help women at a critical time in their career—the Early Independence Award (EIA), which allows awardees to skip a postdoc and start an independent lab immediately after a Ph.D.—women constitute 38% of applicants but only 25% of awardees. “I don’t see why consistently fewer women should make it through than apply,” says Monica Mugnier, a molecular parasitologist at Johns Hopkins University in Baltimore, Maryland, who won an EIA in 2016.

    The sample size is small: Among the new EIA winners, three of 13 were women, notes Kristin Knouse, a 2018 EIA winner who is a cell biologist at the Whitehead Institute for Biomedical Research in Cambridge, Massachusetts. But, she adds, women have been underrepresented among EIA awardees in eight of the 9 years since the award was launched (see graph, below). “In aggregate over all the years, there has been a significant bias,” Knouse says. “There needs to be a systematic examination of where this awardee bias is arising.”

  • Study identifies a key reason black scientists are less likely to receive NIH funding

    Researcher Stephen Thomas pictured with barbers in a shop

    Stephen Thomas (center) is a researcher at the University of Maryland in College Park who helps train barbers to be health advocates for their customers.


    In 2011, a study led by economist Donna Ginther of the University of Kansas in Lawrence found that black applicants were significantly less likely than white applicants to be funded by the National Institutes of Health (NIH). Since then, NIH officials have examined a host of factors that might cause the disparity, from the historical advantages that white men enjoy to overt discrimination by grant reviewers. But the picture remains cloudy.

    Now, NIH scientists have identified a key factor they hadn't previously considered: the topics that black scientists want to study. Specifically, black applicants are more likely to propose approaches, such as community interventions, and topics, such as health disparities, adolescent health, and fertility, that receive less competitive scores from reviewers. And a proposal with a poorer score is less likely to be funded. The finding is already prompting discussion about whether that disparity is rooted in NIH's priorities—and whether those priorities should be rethought.

    The study, published today in Science Advances, is based on some 157,000 proposals submitted between 2011 and 2015 for NIH's bread-and-butter R01 grants. After analyzing the text, researchers placed each proposal into one of 150 topic areas. Then they examined six factors that could influence the final outcome. They found that three contributed to creating the "Ginther gap"—whether a proposal is scored (more than half are not), what score it receives, and the applicant's choice of topic.

  • Nobel Prize in Chemistry goes to development of lithium batteries

    a module of a lithium-ion electric vehicle battery

    This lithium-ion battery that powers electric cars is one of many commercial products made possible by the research honored by this year’s chemistry Nobel.

    Akio Kon/Bloomberg via Getty Images

    You probably have evidence of a Nobel Prize in your pocket. This year’s Nobel Prize in Chemistry goes to the pioneers of the lithium-ion battery, an invention that has become ubiquitous in the wireless electronics that power modern life: your phone, your laptop, and sometimes even your car. Lighter and more compact than the lead and nickel-cadmium batteries of yesteryear, lithium-ion batteries, with further tinkering, could provide a path to storing energy to power homes, airplanes—and even the grid.

    The $900,000 prize is split between three scientists: Stanley Whittingham of the State University of New York in Binghamton, John Goodenough of the University of Texas in Austin, and Akira Yoshino of Asahi Kasei Corporation in Tokyo. 

    "Lithium-ion batteries have made a tremendous impact on our society," said Yang Shao-Horn, of the Massachusetts Institute of Technology in Cambridge. "I am thrilled."

  • After 50-year conservation effort, songbird flies off U.S. endangered species list

    Kirtland’s warbler in a tree

    A male Kirtland’s warbler sings its song.

    G. Ronald Austing/Science Source

    Originally published by E&E News

    The Kirtland's warbler has required protections for as long as there has been an Endangered Species Act (ESA), but that's about to change.

    In what the Trump administration and some environmentalists are calling a regulatory and collaborative success story, the Fish and Wildlife Service (FWS) today announced it is removing the notably loudmouthed songbird from the endangered species list.

  • Physics Nobel honors architect of modern cosmology, discoverers of other worlds

    The universe

    The universe is just 5% visible matter, something that Princeton University cosmologist James Peebles foresaw. 

    NASA/ESA/S. Beckwith (STScI)/HUDF Team

    This year’s Nobel Prize in Physics honors the human desire to understand both the fundamental nature of the universe and its planetary particularities. Half of the $900,000 prize goes to Princeton University cosmologist James Peebles, for laying the foundations of modern-day cosmology and predicting the basic ingredients of the universe. The other half will be split between astronomers Michel Mayor and Didier Queloz. In 1995, at the University of Geneva in Switzerland, they discovered the first planet around another sunlike star—opening the floodgates to the discovery of thousands more exoplanets of every description.

    Peebles’s many theoretical predictions have proved prescient. For starters, in 1965 he predicted the big bang nearly 14 billion years ago should have left an afterglow, radiation that would have stretched to microwave wavelengths as the universe expanded. That cosmic microwave background (CMB) was discovered the same year and has proved invaluable for deciphering the universe. “He was the guy in the early days,” says Joseph Silk, a cosmologist the University of Oxford in the United Kingdom. He “put the physics into cosmology.”

    Others had suggested an afterglow; Peebles laid bare the details. He showed how its temperature is pinned down by the abundance of light elements in the cosmos. He also predicted that the sloshing interplay between radiation, ordinary matter, and dark matter—the invisible stuff that was already thought to hold the galaxies together—would cause the temperature of the CMB to vary from point to point across the sky. Those tiny fluctuations were eventually spotted by NASA’s Cosmic Background Explorer satellite, which launched in 1989.

  • Medicine Nobel honors work on cellular system to sense oxygen levels

    A man announces Nobel Prize awards as winners' faces are projected onscreen

    Nobel Assembly member Randall Johnson (far right) announces the winners of the Nobel Prize in Physiology or Medicine: Gregg Semenza, Peter Ratcliffe, and William Kaelin Jr.


    The Nobel Prize in Physiology or Medicine has been awarded to three scientists for their research into how cells detect oxygen and react to hypoxia—conditions when oxygen is low in tissues. The fundamental physiology work has led to a better understanding of how more than 300 genes in the body are regulated, including the one for the hormone erythropoietin (EPO), which controls the production of red blood cells.

    Oxygen sensing is integral to many diseases and numerous drugs are being developed to alter the response of this system to treat everything from cancer to anemia. “Applications of these findings are already beginning to affect how medicine is practiced,” Randall Johnson of the Karolinska Institute in Stockholm, who studies hypoxia and was on the prize selection committee, said in a press conference announcing the winners.

    “How oxygen is sensed by both normal tissues and tumors is an incredibly important discovery that is highly deserving of a Nobel Prize,” says Amato Giaccia, a cancer researcher at the University of Oxford in the United Kingdom. “It’s a fundamental aspect of nature.” Many of the genes that are turned on when oxygen is scarce are also turned on in tumor cells, he notes.

  • Turmoil mounts at MIT Media Lab as scientist is ousted for sexual harassment


    The Massachusetts Institute of Technology’s Media Lab has been roiled by controversy.

    ES Tech Archive/Alamy Stock Photo

    The Massachusetts Institute of Technology’s (MIT’s) troubled Media Lab last week ousted longtime faculty member Michael Bove for violating the university’s sexual harassment policy. The Media Lab also announced mandatory sexual harassment training for all personnel.

    Media Lab Executive Director Deb Roy sent a letter yesterday to students, staff, and faculty saying: “Michael was terminated solely as a result of a determination that he violated MIT’s sexual harassment policy. … [T]here are aspects of MIT policies and practices that I believe should be improved. I will work with colleagues at MIT towards better policies for the entire community.”

    Bove had been a principal research scientist at the Cambridge lab and his last day of employment was 26 September, according to an email statement last week from Kimberly Allen, MIT’s director of media relations. Allen declined to comment on the details of Bove’s ouster, but wrote: “At all times we encourage any member of our community who has experienced or witnessed harassing behavior to report it using the resources MIT makes available.”

  • A global push to get from disease genes to medicines

    conceptual illustration of a hand opening a pill tablet with double helices inside
    Malte Mueller/Getty Images

    The Human Genome Project’s completion in 2003 brought hope that geneticists would soon uncover the genes behind scourges such as heart disease and Alzheimer’s. But soon came a reality check: Most common diseases have been tied not to a few genes, but scores or even hundreds, each raising a person’s risk of disease by a tiny amount. Despite a growing list of these genetic markers, identified by combing the DNA of large groups of people with and without a disease, researchers have only figured out what a specific marker means for a person’s health in a few cases.

    In a bid to increase that number, human geneticist Eric Lander of the Broad Institute in Cambridge, Massachusetts, and colleagues gathered last week near Washington, D.C., to launch a nonprofit, the International Common Disease Alliance (ICDA). Nearly 170 researchers from 19 countries, from Japan to South Africa, met for 2 days to talk about how to get from maps (genetic markers) to mechanisms (what a gene does inside cells) to medicines (using the information to develop treatments).

    The invitation-only meeting, which was also broadcast online, was co-hosted by the National Institutes of Health (NIH), whose director, geneticist Francis Collins, gave the keynote address. Many researchers only learned about the meeting a few days before it began, drawing complaints. (One geneticist tweeted that it was “cover for a plan to siphon huge amounts of #NIH $$$ directly to the @BroadInstitute.”) In this edited interview, Lander and Cecilia Lindgren of the University of Oxford’s Big Data Institute in the United Kingdom—who with Lander co-chairs ICDA’s organizing committee—say they had to limit the meeting’s size, but they want researchers everywhere to help flesh out their plans.

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