In an article published in Genetics in Medicine, Heidi L. Rehm, Director of the Laboratory for Molecular Medicine at Partners Healthcare Personalized Medicine and Associate Professor of Pathology at Harvard Medical School, calls for the sharing of variant interpretations to advance medicine and improve patient care. Reviewing the progress made over the past five years by ClinVar and other major studies, she highlights the strides than can be made when multiple laboratories collaborate on evaluating the significance of individual genes, assigning categories consistently, and allowing peer review. To that end, Rehm lays out five recommendations for regulators, agencies, providers, laboratories and others. Rehm is a frequent Consortium collaborator – she wrote a major article on improving genomic laboratory practices with Consortium Chair Susan M. Wolf and others. She also spoke about her work to define standards for the interpretation of genomic variants at a lecture hosted by the Consortium in 2015; video of that talk is available here.
On Aug. 8, the Biotechnology Institute (BTI), a Consortium member, will be co-hosting a one-day symposium with colleagues from the University of Tokyo. This event inaugurates a Research Exchange Program between BTI and the University of Tokyo’s Department of Biotechnology; Biotechnology Research Center; and Department of Applied Biological Chemistry. Scholars from both universities will present their research; there will also be a poster session and catered lunch. The event will be held from 8:30am-5:00pm at Borlaug Hall 306 on the St. Paul campus. Learn more and RSVP here.
The University of Minnesota has announced it is renaming two health-focused interdisciplinary centers, including Consortium member the Center for Spirituality & Healing (CSH), in honor of Twin Cities inventor and entrepreneur Earl E. Bakken. Bakken is the co-founder of Medtronic, is an alumnus of the U, and was an early mentor for CSH director Mary Jo Kreitzer. According to the University's announcement, "Bakken has a unique appreciation for both the art and science of health care, as demonstrated by his long-standing support for [CSH], a center focused on research, outreach and education of integrative health and wellbeing." The Medical Devices Center, an interdisciplinary program under the Institute for Engineering in Medicine, will also be renamed in Bakken's honor; in 1957, he developed the first wearable, external, battery-powered, transistorized pacemaker for Dr. C. Walton Lillehei, a University of Minnesota heart surgeon.
The Washington Post reports that scientists in Alberta have "used commercially available genetic material to piece together the extinct horsepox virus, a cousin of the smallpox virus that killed as many as a billion human beings before being eradicated." While the lead researcher's efforts are "aimed at developing vaccines and cancer treatments," his achievement led the former head of the Centers for Disease Control (CDC), Tom Frieden, to assert "the need to monitor more closely 'dual-use' experiments — research that could be used either for protective purposes or, in theory, to create a deadly pathogen." Consortium collaborator Alta Charo, who currently serves on the National Working Group for the LawSeq project, says "we are still struggling with how to manage the dual-use dilemma. How do we get the benefit of the research without the risk of it being turned against us?" Meanwhile, other researchers emphasize the greater threat of naturally evolving pathogens such as Zika and Ebola. Michael Osterholm, director of Consortium member the Center for Infectious Disease Research and Policy (CIDRAP), notes another aspect of the horsepox synthesis: “How many other people have done it[?] We never thought or expected it to come from a place like Alberta. It's not one of the leading universities in the world for microbiology and synthetic biology. If it came out of there, how many other places like this are also doing the same work right now?” Osterholm continues, "This has been the storm coming for years. We’ve known about it, but unfortunately, we’re not ready."
In February, 2016, a 26-year-old American woman underwent the nation’s first uterus transplant. While that procedure was ultimately unsuccessful because of a post-operation infection, a Swedish team has conducted a 9-patient trial resulting in 7 pregnancies and 5 deliveries since 2013. During the 2015-2016 academic year, Law School student Katarina Lee received a Consortium Research Award to analyze the medical, legal and ethical ramifications of uterine transplantation. The practice is both fraught with medical risk and raises controversial bioethics questions because, unlike heart or kidney transplants, the operation is not life-saving. Having completed her JD, Lee now works as a clinical ethics fellow at Baylor College of Medicine’s Center for Medical Ethics and Health Policy. To learn more about this and other Consortium Research Awards, click here.
A team of scientists led by Jakub Tolar, director of Consortium member the Stem Cell Institute, believes they've discovered a new therapy to help patients suffering from a devastating skin disease. According to the Minneapolis Star Tribune, "A decade after performing the world’s first bone marrow transplants to treat epidermolysis bullosa (EB) — a rare and potentially fatal skin disease — university researchers believe they have discovered a 'powerhouse' new formula that . . . helps the body grow new skin and will allow patients such as [Jonathan] Pitre, 17, to live longer, less painful lives." EB can cause friction or even a minor bump to become a significant wound; it sometimes leads to severe infections and skin cancer. Over the past several months, Pitre has been treated at the U's Masonic Children's Hospital, undergoing radiation, chemotherapy and two bone marrow transplants. Long-term research has helped doctors identify the most effective cell type for EB treatment — mesenchymal stem cells, are "uniquely good at bullying their way into the body and producing the missing collagen [that causes the disease]. 'This is the first time ever, that I know of, when you are infusing them with the goal that these cells will stay,' Tolar said. 'They will graft into the skin, set up shop there. It’s as if these mesenchymal stem cells are coming home.'"