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June 26, 2015
Table of contents
Evan Eichler’s work leading to major insights about autism and genetic variation
It is significant but not surprising that Evan Eichler is an author on 15 papers published in the first half of 2015. A professor of genome sciences and member of the UW faculty since 2004, Evan is one of our most productive and original scientists. He has steadily and brilliantly made progress in key areas that have led to new understanding of genetic variation from multiple perspectives. An article in the Spring 2015 Howard Hughes Medical Institute (HHMI) Bulletin highlights advances in his highly original and groundbreaking work on autism.
The HHMI article describes the impact of a strategy Evan and his colleagues pioneered in which researchers either sequence the exome (the gene-coding part of DNA) or the DNA from a panel of genes from families in which only one child has autism. They then look for new or de novo mutations as well as other damaging mutations that may indicate common pathways to the disorder. This innovative “genotype-first” approach varies from the more usual approach of examining an individual’s symptoms and then attempting to identify the responsible gene or mutation.
As a result of their work, it is now known that damaging mutations map to the same genes in several families.Their methods are allowing Evan’s team to identify and characterize distinct genetic subtypes of autism with defining physical, clinical and behavioral traits.
These findings indicate that autism is not a single disease, but rather a collection of multiple disorders with distinct etiologies. This is an important advance for a disease that has long baffled science. The ultimate result of Evan’s work could be insight into the root causes and the full range of autism types as well as targeted interventions most appropriate for different underlying causes.
Evan’s work also extends to related genetic variation, including evolutionary processes, population differences and genetic variation between species, such as the great apes. He has been recognized for his outstanding work with many honors, including being elected to the National Academy of Sciences in 2012 and becoming a Howard Hughes Medical Institute Investigator in 2005.
Evan is widely known as a wonderful person, teacher and mentor. Michael Duyzend, an M.D.-Ph.D. student completing his doctoral work in Evan’s lab, told me: “Evan is the rarest sort of mentor: passionate, driven, and dedicated to his research and trainees. Despite running a large lab, Evan makes time for each person.”
It is a pleasure to have Evan Eichler as a member of our faculty. Thank you, Evan, for all you have done and will do in the future!
Paul G. Ramsey, M.D.
A new study suggests that people with a genetic predisposition for high blood pressure have a lower risk for Alzheimer’s disease. The study was published June 16 in PLOS Medicine. Paul Crane, UW associate professor of medicine in the Division of General Internal Medicine, was the co-author.
The researchers used the International Genomics of Alzheimer’s Project data, which included 17,008 people with Alzheimer’s and 37,154 people without the disease. Although the researchers searched for associations between Alzheimer’s and several medical conditions, such as diabetes and high cholesterol, the only significant connection they found was between low Alzheimer’s risk and genes associated with high blood pressure. The researchers speculate that antihypertensive medication may reduce the risk of Alzheimer’s. For more on the story,see the article in HSNewsBeat.
After growing rapidly from 2000 to 2010, global health funding was stagnant between 2010 and 2014. Funding amounted to $35.9 billion in 2014, according to new research by the Institute for Health Metrics and Evaluation (IHME) at the University of Washington. The article, “Sources and Focus of Health Development Assistance, 1990-2014,” was published online June 16 in the Journal of the American Medical Association (JAMA). Researchers found that funding decreased by 1.6 percent between 2013 and 2014. The researchers estimate that $1.1 billion was spent on Ebola in 2014. The total includes humanitarian relief. The United States continued to be the largest source of funding and provided $12.4 billion in 2014. For more on the report, see the IHME news release.
Heroin deaths in Seattle-King County rose 58 percent from 2013 to 2014, according to an annual report published June 18 by UW’s Alcohol and Drug Abuse Institute. “The increase in drug deaths in 2014, particularly heroin, is quite distressing,” said Caleb Banta-Green, senior research scientist with the institute and the report’s lead author. He said King County has expanded access to lifesaving measures, including opioid drug treatment, and is distributing the opiate overdose antidote naloxone. It appears, however, that heroin use and related mortality are outpacing these efforts. For more on the story, see the article in HSNewsBeat and coverage in Seattle Times, KOMO-TV ABC 4 and Radio 1000, KING-TV NBC 5, and KUOW.
Other research news from UW Medicine:
During Pride Week 2015 (June 22-28), all four UW Medicine hospitals are flying pride flags to show support for LGBT communities and to increase community awareness of UW Medicine’s commitment to and competency in addressing LGBT healthcare issues, access and care. The rainbow pride flag is a symbol of LGBT acceptance and is displayed around the world. UW Medicine is one of the first healthcare organizations in the country to fly rainbow flags in unison during Pride Week. For more on the story, see coverage on KIRO-TV CBS 7.
UW Medical Center has launched a pilot program to provide paraplegic patients with a device so they can experience walking. It is one of the only hospitals in the state to do so.
The hospital’s Rehab Medicine Outpatient Service is leasing a trainer version of an exoskeleton for a year from the manufacturer, ReWalk, of Massachusetts. “Our primary reason for developing this program is to give people with paraplegia the experience of walking,” said Maria Reyes, medical director of spinal cord injury rehabilitation for UW Medicine. “This serves as additional data to decide whether this technology is suitable for them and worth purchasing." For more on the story, see the article in HSNewsBeat.
UW nursing graduate Eric Seitz, a former heroin addict living on the streets, has a story of survival and decisions. At 24 and dying from flesh-eating bacteria, he was treated at Harborview. That’s when he made the decision to go into community nursing. The 30-year-old class president of the UW School of Nursing just graduated. And so begins his next chapter of life
"He's done it all himself," his father David told KING TV. "He did this. With grants, scholarships, hard work. He just committed himself to a completely different path." See the story on KING-TV 5 NBC.
Other clinical news from UW Medicine:
The UW School of Medicine is preparing to launch its new curriculum. Developing this curriculum over four years has been perhaps the most complex ever for any medical school, given the school’s five-state reach. While building a curriculum that serves all WWAMI states with common objectives and assessments is a challenge, it has resulted in a genuinely collaborative culture of regional ownership of the new curriculum. Faculty and staff from each WWAMI university site (University of Wyoming, University of Washington Seattle and Spokane, University of Alaska-Anchorage, Montana State University, and University of Idaho), and from regional clinical settings, are part of the large team building the curriculum.
The new Foundations Phase of the curriculum starts Sept. 8. This phase has seven integrated blocks (which are dedicated courses) over 18 months along with a clinical curriculum called Foundations of Clinical Medicine (FCM). All of these will offer a robust and exciting curriculum for students. For a more detailed look, see the schematic on the Curriculum Renewal website.
Students will begin with an immersion experience in August, with clinical skills training and discussion of topics like professionalism and patient-centered care. When classes start, students will spend a day each week further developing clinical skills through workshops and twice-monthly experiences in primary-care settings.
This patient-centered clinical skills training is in addition to personalized clinical skills training students receive from College mentors.The FCM curriculum augments and builds on the highly successful Colleges program, which has received accolades from UW students over the past 15 years. Karen McDonough, UW associate professor of medicine, and Margaret Isaac, UW assistant professor of medicine, co-direct the Foundations of Clinical Medicine course and clinical skills workshops. Jeanne Cawse-Lucas, UW acting assistant professor of family medicine, directs the Patient Care Practicum that offers practice-based experiences. Amanda Kost, UW assistant professor of family medicine, directs the Immersion Program.
If you are a primary care physician interested in having a student in your practice one day each week as part of Foundations of Clinical Medicine (Wednesdays in Seattle and most regional sites), please contact Dr. Cawse-Lucas at email@example.com.
The new curriculum focuses on active learning, preparation by students prior to classes and small group, case-based teaching sessions. Lectures will be minimized. For some faculty, this means learning a new approach to teaching.
An outstanding team has built a nimble faculty development program with educator online modules and focused faculty development programs offered region-wide. The team is led by Lynne Robins, UW professor of medical education and biomedical informatics and director of educator development for the medical school, and Joshua Jauregui, UW acting instructor and senior fellow in emergency medicine.
Kudos and thanks to the entire curriculum development team, consisting of hundreds of people from across the five WWAMI states, and especially Michael Ryan, associate dean of curriculum, who has done an outstanding job orchestrating this complex reform.
More education news from UW School of Medicine:
Forrest Curt Bennett, UW professor of pediatrics, is stepping down after 15 years directing the pediatric WWAMI program for medical students and residents. During his tenure he has tripled the number of WWAMI sites for clinical experience, from six to 19.
“Our program has never been stronger,” said Bruder Stapleton, UW chair and professor of pediatrics. “In his quiet way, Curt has developed the most extensive pediatrics medical student education network in the United States.”
Bennett came to UW as a pediatrics resident in 1970; Stapleton was an intern under him in 1972. Bennett developed specialty training in neurodevelopmental pediatrics (cerebral palsy, mental retardation) and was one of the early pioneers in studying neurological development of premature babies, said Stapleton. He said Bennett was asked by the American Board of Pediatrics to be on the founding committee for certification in neurodevelopment pediatrics. Bennett then developed an interest in education, first leading the UW pediatrics fellowship and then serving as pediatrics coordinator for pediatrics medical students. In 1999, Bennett began to invest the majority of his time in medical education, first as director of the Pediatrics Medical Student Program (until 2014). In 2004, he also became the director of the Pediatrics WWAMI Program.
Bennett has held a number of national leadership positions, including serving as president of the Western Society for Pediatric Research and of the Society for Developmental and Behavioral Pediatrics. He is a past president of the Washington Chapter of the American Academy of Pediatrics. In his honor, the UW Department of Pediatrics will offer a biannual medical student teaching award called the “Forrest Curt Bennett WWAMI Pediatric Teaching Award.”
Award-winning Boise teacher James Branahl retiring
Long-time faculty member James E. Branahl, UW clinical professor of medicine in the Division of Gerontology and Geriatric Medicine, is retiring at the end of June after receiving many awards and accolades for his teaching skills. Branahl has been the site director for the internal medicine clerkship in Boise for almost 30 years and guided hundreds of WWAMI students into their medical careers. His students, who nominated him for teaching excellence awards, said he cares deeply about patients and teaching.
In 1998, Branahl received the first WWAMI Teaching Excellence Award in internal medicine and in 2013-2014 he was awarded the Idaho Track Teacher of the Year Award, a nomination by medical students. Branahl also worked at the Department of Veterans Affairs Medical Center in Boise and is the past recipient of the Veteran’s Administration Hands and Heart Award, which recognizes a compassionate individual whose dedication to veterans is marked by the highest standards in patient care. In 2011, he received the Marsha Goodwin-Beck Interdisciplinary Award for Excellence in Geriatric Clinical Care Delivery. The award, given by the U. S. Department of Veterans Affairs, recognizes outstanding geriatric healthcare providers and leaders in the interdisciplinary care of older veterans.
“Jim has been a staunch student advocate for all of these years,” said C. Scott Smith, a long-standing colleague of Branahl’s at the Veterans Affairs Medical Center in Boise. “He has insured that students have excellent ambulatory experiences in his own and other clinics around the valley. He is an award winning teacher on the wards, and he orients the residents to student teaching every year. He will be missed.”
Peter Greenberg, UW professor of microbiology, will share the $1 million 2015 Shaw Prize in life science and medicine with Bonnie Bassler, chair of Princeton University’s Department of Molecular Biology. The award will be presented Sept. 24 in Hong Kong.
Their work centers on quorum sensing, a term coined by Greenberg to describe a process first shown in marine luminescent bacteria. The light of a single bacterium is invisible to the unaided eye, but when enough luminescent bacteria cooperatively secrete a chemical, they make a quorum and create a light that people can see, Greenberg said.
“Hundreds of bacterial species use quorum sensing to control various things, and there’s a big push for drugs to target quorum sensing,” he said. For more on Greenberg’s work, please see the article on HSNewsBeat.
Nathan Palpant, UW senior research fellow in pathology, received the International Society for Heart Research (ISHR) North American Section Young Investigator Award for senior postdocs and early assistant professors at a recent meeting in Seattle, June 7-10.
ISHR said Palpant was chosen as a finalist based on the quality of an unpublished manuscript, his CV and a letter from his supervisor, Charles Murry, UW professor of pathology, bioengineering and medicine/cardiology. ISHR said Palpant was chosen as a winner among four finalists based on the quality of his oral presentation at the meeting and his responses to questions asked by judges during the discussion period. His manuscript and talk were titled: "Human cardiac, endothelial and blood lineages are controlled by gradients of activin A, BMP4, and Wnt/beta-catenin signaling." According to his research, the findings have broad implications for understanding mechanisms of development and disease and enhancing capacity to generate cell types with therapeutic potential. As an awardee, he received $1,000 and a plaque. (His father, Samuel Palpant, is a long-time WWAMI faculty member in Spokane).
The UW Department of Physiology & Biophysics ranked first in total grant funding among physiology departments nationwide, according to the 2014 Association of Chairs of Departments of Physiology (ACDP) annual survey. The department received $12.1 million in grant support in the 2014 calendar year, up more than $1 million over 2013 funding. Based on the same survey, the department has ranked first or second in grant funding for the past five years.
The annual survey was sent electronically to 187 physiology departments throughout the U.S., Canada, Mexico and Puerto Rico. A total of 41 surveys were returned, for a response rate of 22% .(This rate is similar to previous years.) To view more survey results, see the article on the American Physiological Society website.
Videos from the 2015 UW Mini-Medical School are available on YouTube.
In partnership with the UW School of Medicine’s Summer Medical and Dental Education Program, the UW Office of Research and Graduate Education is organizing a two-hour bioscience lab session as an introduction to basic science research for under-represented minority students. Event organizers are looking for scientists to volunteer lab time and personnel, who can integrate their research into a short hands-on lesson. Lab facilitators can include faculty, postdocs or graduate students. Scientists are asked to host up to five students for two hours between 2:30-4:30 p.m. on July 7 at either UW Medicine South Lake Union or Fred Hutch. Please contact Heather Hawley at firstname.lastname@example.org. See the flyer for more information.
Sponsored by the Oregon Health & Science University Brain Institute, the Allen Institute for Brain Science and the University of Washington, this annual conference is designed to explore neurotechnology innovations. Jeffrey G. Ojemann, UW professor and division chief of neurological surgery, is among the speakers. For more information, see the conference website.
The UW Department of Medicine will be hold its annual workshop over two days. The program will cover skills necessary for academic success, such as grant writing, scientific writing, oral presentation, job negotiations, etc. The course will be led by Thomas Hawn (UW professor of medicine/ allergy & infectious diseases) and Ellen Schur (UW assistant professor of medicine). It is designed for research fellows and is open to fellows and junior faculty from all departments.
A light breakfast (both days) and lunch (Wednesday only) will be included to facilitate informal conversations.There is no charge for attendance at the course, or for the meals served. Please visit the website to register and to see a detailed course agenda.
The Northwest Center for Public Health Practice will hold three focused conversations on health equity — their 2015 Summer Institute theme. Participants will explore how data, community partnerships and leadership can support everyone’s right to live a healthy life. All sessions take place during the first week of August (Aug. 3, 4 and 5) at UW’s South Campus Center and are open to the public at no cost. For the lineup, please see the website. To attend the entire three-and-a-half day Summer Institute, register by July 1.
Hosted by Seattle Children’s Research Institute, the conference will bring together international scientists and healthcare leaders to discuss the latest immunotherapy research in pediatric oncology. This is a CME conference. Sept. 24-25 at the Westin Hotel. For more information.
Over the past two years, Kristina Adams Waldorf, UW associate professor in obstetrics and gynecology, has worked with a group in radiology 9Rob Nathan, Bill Marks and Nicole Goldsmith) to refine and expand upon a pregnancy ultrasound curriculum and to create teaching videos online. The goal of the course is to teach pregnancy ultrasound in parts of the world where formal training is not available. They have taught the course all over the world including Uganda, Democratic Republic of Congo, Mali, Nigeria, Zambia, Kenya, Tanzania, Bangladesh, Nepal, Laos and Guatemala.
The 17 training videos last between 20 and 45 minutes and cover many aspects of pregnancy ultrasound. The course teaches all the concepts typically taught in residency, but also goes beyond by including training on identifying ectopic pregnancy and anomalies. The concepts are presented clearly with examples of a range of normal and abnormal ultrasound findings. Course website (tinyurl.com\uwultrasound).
Visit Continuing Medical Education for information on upcoming classes.