Some Gene Mutations Are Good
For years, researchers have looked for gene mutations that cause disease. Two scientists who started The Resilience Project have flipped that effort upside down and started looking for gene mutations that protect against disease. Discovery of such positively deviant genes paves the way for drugs that mimic the protective qualities.
A New York Times story by Gina Kolata tells the story of a Port Orchard, Washington, man who has a gene for early onset Alzheimer's. The man's older brother, mother, nine of his mother's siblings, and six cousins began showing symptoms in their 40s, and most died in their 50. The man, now 65, has no signs of the illness, and researchers are trying to learn whether he has a genetic mutation that is counteracting or substantially delaying the horrifying impact of the Alzheimer's gene that he has.
"Instead of trying to fix things that are broken, let's look at people where things are broken but nature finds a way around it," Dr. Eric E. Schadt, director of the Icahn Institute, a medical research institute at Mount Sinai Hospital in New York, said in an interview with the Times.
Researchers have found many genes mutations that cause disease or predispose a person to an illness, and those seem be considerably more common than the beneficial mutations. However, with today's fast and relatively inexpensive methods of sequencing DNA, and the ever-growing databases of study subjects whose genomes have been sequenced, scientists can begin to look for the positive mutations. Dr. Schadt and Dr. Stephen H. Friend, director of Sage Bionetworks, a nonprofit research organization in Seattle, are searching databases that hold clinical and genetic information. They are looking for people who, despite having mutations for fatal diseases that strike early in life, have remained healthy far past the age when the illness should have appeared. They have analyzed data from more than 500,000 people, and found only 20 in which a good gene mutation appears to have blocked a bad one. But because no names are attached to the data, the scientists can't contact those people. So they contacted researchers studying extended families with severe genetic illnesses, and they found the Washington man.
Some amazing beneficial gene mutations have already been discovered. One prevents HIV from entering cells and causing AIDS, and that discovery has enabled scientists to treat HIV positive patients by directing editing their cells. Discovery of another gene alteration that prevents build up of LDL cholesterol led to discovery of a drug that is now in the final stage of testing. Researchers using genetic data bases have also found mutations in some genes that confer partial protection against heart disease, osteoporosis and Type 2 diabetes.
The Washington man who seems to have defied his dangerous Alzheimer's gene retired recently. He told the Times his life's work now is to help scientists understand the treacherous disease that claimed lives of so many members of his family.
Happy New Year!
Upcoming Workshop
The Leading Adaptive Change workshop, presented in collaboration with Johns Hopkins Armstrong Institute, provides approaches for engaging health care organizations to tackle stubborn patient safety challenges.
Too often, patient safety and quality improvement efforts fail because they focus on technical changes-such as introducing new tools and technologies-without addressing the values, beliefs and attitudes of the group involved in the work. This two-day program, with a post-workshop webinar, provides participants with concrete methods and tools for adaptive change, so that their organizations can engage groups to solve problems together, bring about behavior change, devise innovative solutions, and create sustainable improvement.
Health care organizations face seemingly intractable problems, whether it's poor teamwork, weak hand-hygiene performance or broken processes. Using adaptive change methods, patient safety champions can create the conditions for break-through improvement.
Two sessions available in Baltimore, MD:
February 11-12, 2015 led by Lisa Kimball and Jeff Cohn
August 4-5, 2015 led by Sharon Benjamin and Jeff Cohn
Register on the Johns Hopkins Armstrong Institute site.
Remember PlexusCalls!
PlexusCalls
Friday, January 9, 2015 1:00PM Eastern
Strategies for Adaptive Leadership and Innovation
Guests: Daniel Pesut and Charlie Garland
You've heard discussions about technical and adaptive leadership. Charlie Garland has explored some of the tools and thinking strategies that aid development of adaptive leadership skills.
Charlie Garland is an innovation expert who provides services as consultant, executive coach, trainer and author. He has developed a series of tools and models that show how our natural thought processes, psychology and experiential learning can evolve into the creation of new value. His clients have ranged from Fortune 100 corporations to early stage entrepreneurs across industries that include finance, IT, manufacturing, publishing fashion, law and entertainment. He earned a BS degree in industrial engineering from the Worcester Polytechnic Institute, and an MBA from the Amos Tuck School at Dartmouth College. He launched The Innovation Outlet in 2011.
Daniel Pesut, PhD, is professor of Nursing Population Health and Systems Cooperative Unit and Director of the Katharine J. Densford International Center for Nursing Leadership and holds the Katherine R. and C. Walton Lillehei Chair in Nursing Leadership at the University of Minnesota School of Nursing. Throughout his 38 year career as a nurse he has held positions in both academic and public sectors serving in a variety of roles that include staff nurse, clinical nurse specialist, director of nursing services, academic department chair, and associate dean. He values and supports creativity and innovation and is dedicated to the development of next generation nursing leaders through his coaching and consulting practice. He served as a Trustee of the Plexus Institute from 2005-2010 and was the Chair of the Plexus Institute Board of Trustees from 2011-2012.
Healthcare PlexusCalls
Wednesday, January 21, 2015 1:00PM Eastern
Embracing Complexity: Managing Treatment-Related Symptoms During and After Cancer Treatments
Guests: Noah Zanville, Sarah Shockley and Christine Cote
Cancer remains a leading cause of death for individuals in the U.S., but has increasingly become a disease patients can survive, thanks to a growing arsenal of effective treatments. For patients today, this arsenal includes cutting-edge surgery, hormone therapy, chemotherapy, radiation therapy, biologics and immune-modulating drugs. Together, this collection of treatments is helping more and more patients to fight, and win, their battle against cancer. Unfortunately, many of these treatments can also lead to side-effects that can disrupt patient's transition back to wellness and, in some cases, threaten their ability to finish their cancer treatment. This tension between treatments that heal and treatments that harm is a major theme in oncology, and is made worse by the fact that in many cases, there are no treatments for these side-effects. Social factors like an aging population, increasing pressure to stay in the workforce and spiraling healthcare costs further underscore the need to help patients, their families, and their providers to manage treatment-related symptoms during and after cancer treatment.
Noah, Sarah and Christine will join the call for a roundtable conversation about the challenges of cancer treatment and what "embracing a complexity perspective" might look like in the everyday care of cancer patients. Please bring your voice and your own experience to this important conversation. Read the guests complete bios.
See all upcoming PlexusCalls on the Plexus Calendar. Subscribe to the PlexusCalls or Healthcare PlexusCalls podcasts. Or, visit the Community section of plexusinstitute.org for the audio archive.
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