As 2018 comes to a close, one of the year's most startling scientific developments was the announcement of gene-edited twin girls born in China. While the promise and power of the technique known as CRISPR have long been known, scientists and policymakers have emphasized resisting the temptation to use it on human embryos. That is, however, precisely what He Jainkui did, as described in an article in Wired. He's attempt to contain the firestorm of criticism by proposing "a core set of fundamental human values to frame, guide and restrict clinical applications" of gene editing failed miserably, putting a point on the fact that "there are no actual international rules" for use of the technique. The primary ethical concern is limited understanding of the effects of so-called "germline editing," which is heritable and can be passed to future generations. Beyond doubts about the effects of CRISPR on the twin girls, Wired notes, "He’s research raises the spectre of gene-editing enhancements, designer babies if you will, such as making a person taller or smarter before birth," possibly heralding a new era of human-created genetic inequality.
The latest outbreak of the Ebola virus in the Democratic Republic of Congo (DRC) continues to grow, with officials reporting "549 total Ebola cases and 326 deaths. Eighty-two suspected cases are under investigation," according to the Center for Infectious Disease Research and Prevention (CIDRAP), a Consortium member. In STAT, Helen Branswell reports "this outbreak, centered in the province of North Kivu in northeastern DRC, is now the second largest in known history, with 440 cases and 255 deaths as of Sunday. That is massive in traditional Ebola outbreak terms, but still pales in comparison to the West African outbreak of 2014-2016, where more than 28,000 people were infected and more than 11,000 died." A new tool being used in this outbreak is an experimental vaccine, which was developed in 2015 and is currently allowed for compassionate use. However, there are concerns there won't be enough doses of the vaccine to adequately contain the spread of the deadly disease. Follow the development of this epidemic and public health responses to it on CIDRAP's featured topic page for the virus. Image courtesy of the European Commission ECHO via Flickr.
The University of Minnesota has announced a $5 million gift from the Ecolab Foundation in support of environmental sustainability research and education. A cornerstone of the Ecolab Foundation gift is $2 million for the establishment of an endowed chair for the Institute on the Environment (IonE), a Consortium member, to ensure sustainability thought leadership for years to come. The contribution will count toward Driven, an ambitious fundraising effort that has a $4 billion goal. The Ecolab Foundation will also invest more than $1 million in undergraduate scholarships in science, engineering, and other environmental and sustainability-focused majors and minors, providing renewable awards of $7,500 for diverse and talented students beginning in their sophomore year. "Public-private partnerships are essential to making real progress on sustainability and addressing the impacts of climate change,” said Jessica Hellmann, director of IonE, who will become the first Ecolab Chair for Environmental Leadership. “The global economic impact of climate change and other stressors make this work truly imperative, for Minnesota and around the globe.”
The Center for Neurobehavioral Development, a Consortium member, is using an unusual partner — Santa Claus — to raise awareness of SPARK, the largest autism genetics study in the nation. According to a story from Minnesota Public Radio (MPR), the Center is hosting a Sensory Friendly Santa event this coming Saturday, Dec. 15, from noon-4. Dr. Suma Jacob, who helped organize the event, notes, "It varies for different individuals but one way to describe [sensory sensitivity] is that some people can hear almost every noise around them and have a difficult time blocking it out. . . . Our Santa has worked with kids with autism and other developmental disabilities. Santa will be mindful to wait for the child to approach instead of taking the lead." Dr. Jacobs leads the University of Minnesota SPARK team, and explains that one goal of the event is to let families know about the study and how they can participate. According to MPR, "As part of the study, children will be able to give saliva samples instead of having their blood drawn, which can often be especially traumatic for children with sensory sensitivities."
The November/December issue of Minnesota Medicine features an article by Consortium Chair Susan M. Wolf about the legal and regulatory underpinnings needed to advance genomic medicine. It is part of a special issue on the future of medicine, and provides an overview of the NIH-funded LawSeqSM project Wolf co-leads with Ellen Wright Clayton (Vanderbilt University) and Frances Lawrenz (University of Minnesota). LawSeqSM is dedicated to analyzing current US federal and state law and regulation on translational genomics. Results of the effort will be the development of consensus guidance on what the law should be, as well as the creation of a website aggregating the statutes, regulations and case law related to genomic medicine. The Minnesota Medicine article was co-authored by Kathryn Grimes, Communications Director for the Consortium.
ClinGen, a public genomic variant database, has been formally recognized by U.S. Food and Drug Administration (FDA) as a source of "valid scientific evidence that can be used to support clinical validity." This step is significant because it certifies that ClinGen provides accurate, accessible data to researchers who are developing genetic tests to help increase understanding of the causes of disease by researchers and health care providers, with the ultimate outcome of improving patient care. According to the FDA, "ClinGen brings together more than 700 clinical and research experts to develop standard processes for reviewing data and genetic variants and their connections to health and disease. The experts who are part of the consortium determine how each variant is associated with a specific hereditary disease or condition and make that information available for unrestricted use in the community." The Principal Investigator for the ClinGen project is Heidi Rehm; she outlined the need for undertaking this work and the challenges to correctly interpreting genetic variants in a Consortium-sponsored lecture you can view here.
On Thursday, Nov. 29 a group of eminent scholars and researchers convened at Meharry Medical College in Nashville to evaluate the current state of precision medicine and how access to it can be improved. Conference presenters shared a wide-ranging array of information about obstacles and solutions to delivering genomic medicine in clinical settings, with a particular focus on policies to promote health equity. The event, which involved several dozen in-person attendees and 200 webcast viewers, concluded with a talk by Consuelo H. Wilkins (Meharry-Vanderbilt Alliance). Prof. Wilkins described her work with the federal All of Us Research Program, for which she serves as head of the Engagement Core. She emphasized the need to address the underrepresentation of minority populations in research, as well as mistrust and limited genomic literacy. One of the important takeaways from Prof. Wilkins' talk was the need to reframe the benefits to research participants of collaborating in studies, from returning results to returning value – that is, information these communities find useful. The event was presented by the Meharry-Vanderbilt Alliance, Vanderbilt University Medical Center, the Consortium, and the Minnesota Precision Medicine Collaborative. A special symposium based on the conference will be published in and issue of Ethnicity & Disease guest edited by Marino Bruce (Vanderbilt University), Vence L. Bonham (National Human Genome Research Institute - NHGRI) and Consortium Chair Susan M. Wolf (University of Minnesota). Video of conference sessions will be posted in the next 10 days; to receive notification, please email email@example.com.
Doctors at a London hospital are being sued "because they failed to tell [a woman] about her father’s fatal hereditary disease before she had her own child," according to the Guardian. "The woman discovered – after giving birth – that her father carried the gene for Huntington’s disease, a degenerative, incurable brain condition. Later she found out she had inherited the gene and that her own daughter, now eight, has a 50% chance of having it. The woman. . . says she would have had an abortion had she known about her father’s condition, and is suing the doctors who failed to tell her about the risks she and her child faced. It is the first case in English law to deal with a relative’s claim over issues of genetic responsibility." Much of the groundwork for US legal and policy approaches to these complicated issues can be found in a symposium, "Should We Offer Genomic Research Results to a Participant's Family, Including After the Participant's Death?" edited by Consortium Chair Susan M. Wolf, Barbara A. Koenig (UCSF) and Gloria M. Petersen (Mayo Clinic). The symposium grew out of an NIH-funded grant, "Disclosing Genomic Incidental Findings in a Cancer Biobank: An ELSI Experiment," for which Wolf, Koenig and Petersen served as Principal Investigators.
According to a report from National Public Radio, "In Sweden, a country rich with technological advancement, thousands have had microchips inserted into their hands. The chips are designed to speed up users' daily routines and make their lives more convenient — accessing their homes, offices and gyms is as easy as swiping their hands against digital readers." On April 3, 2019, a free, public lecture and webcast will feature Prof. Lisa Ikemoto (UC Davis School of Law) discussing "Biohacking and Cyborg Rights." Her talk is part of this year's Consortium lecture series, "Consumer-driven and DIY Science," which will also feature Sharon Terry (Genetic Alliance) and Michael Imperiale (University of Michigan).
A new study published in the journal Cell demonstrates that the American diet has nearly immediate effects on the human microbiome. The lead author of the article is Dan Knights of the University of Minnesota; as he tells the Washington Post, "We found that moving to a new country changes your microbiome. You pick up the microbiome of the new country and possibly some of the new disease risks that are more common in that country." In the case of people moving from Southeast Asia to the United States, their "gut diversity dropped to resemble the less-varied microbiomes in European Americans. At the same time, obesity rates spiked." Prof. Knights is renowned for his work using computational methods to better understand the human microbiome and develop precision medicine therapies. He was the commentator for a Consortium-sponsored lecture, "The Evolving Human Microbiome," by Alexander Khoruts, also of the University of Minnesota. Watch the video of that lecture here.