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.'"
A Texas bill has been signed into law allowing "clinics and companies. . . to offer people unproven stem cell interventions without the testing and approval required under federal law," according to Science Magazine. The act grants legal status to practices that are already widespread; Leigh Turner, a professor at Consortium member the Center for Bioethics notes, "you could make the argument that — if [the new law] was vigorously enforced— it’s going to put some constraints in place." However, he continues, "it would really be surprising if anybody in Texas is going to wander around the state making sure that businesses are complying with these standards." The law, which takes effect Sept. 1, sanctions a much broader set of therapies than federal rules allow. Read the entire article here.
Jessica J. Hellmann, PhD, Director of Consortium member Institute on the Environment (IonE) took part in a Minnesota Public Radio roundtable discussion last Friday. Moderated by Kerri Miller and featuring Roopali Phadke of Macalester College and Michael Noble of Fresh Energy, the discussion focused on the logistical, ethical and geopolitical questions related to human efforts to deliberately alter global climate. Prof. Hellmann has led an important paradigm shift in ecology and natural resource management by showing that adaptation — living with climate change — is just as crucial to the future of humanity and Earth’s ecosystems as slowing and stopping greenhouse gas emissions. Listen to the entire program here.
Adam Nash was conceived using in vitro fertilization so doctors could collect stem cells from his umbilical cord blood to save his sister Molly's life. Molly suffers from Fanconi anemia; according to her mother, Lisa Nash, who was quoted in the Minneapolis Star Tribune, "Molly was dying. She was in bone-marrow failure and she had pre-leukemia. We basically used Adam’s garbage to save Molly’s life," because cord blood is discarded after birth. Adam's birth in 2000 sparked widespread discussion of the ethical dilemmas raised by genetic engineering, and was among the inspirations for the book and movie My Sister's Keeper. The treatment, which was successful, was suggested by Dr. John Wagner of Consortium member the Stem Cell Institute. Dr. Wagner is an internationally-recognized as an expert in the field of stem cells and umbilical cord blood transplantation. He was the first to use umbilical cord blood to treat a child with leukemia in 1990; since then, more than 1,300 umbilical cord blood transplants have been performed at the University of Minnesota. A related article with more background on the Nash case is available here.
In a newly-released TEDMED talk, Sharon Terry of Genetic Alliance describes her journey to becoming a citizen scientist after her two children were diagnosed with the genetic condition pseudoxanthoma elasticum (PXE), which causes the symptoms of premature aging. She quickly learned “that there was no systematic effort to understand PXE . . . researchers competed with each other because the ecosystem is designed to reward competition rather than alleviate suffering.” In response, Terry and her husband, Patrick, educated themselves on the disease and gathered thousands of similarly affected people to initiate studies and clinical trials. The message of her talk is that “citizen scientists, activists using do-it-yourself science, and crowdsourcing are all changing the game.” Ms. Terry is a member of the working group for the LawSeq project, which is laying the policy groundwork to translate genomic medicine into clinical application; the principle investigators are Consortium Chair Susan M. Wolf, JD; Ellen Wright Clayton, MD, JD of Vanderbilt University; and Frances Lawrenz, PhD of the University of Minnesota. Last December, the Consortium sponsored an event on patient-led medicine and citizen science; video can be viewed here.