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All in the Family: Is ME/CFS Inherited?

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All in the Family: Is ME/CFS Inherited? SPRING 2018 All in the Family: Is ME/CFS Inherited? The quest to understand We’ve long understood that physical cost. A task that was science fiction characteristics are be inherited and just a few short years ago. In the genetics and inherited that these same genes also contrib- near future, gene editing will allow traits is possibly one ute to our overall health and well- us to correct ‘faulty’ genes associ- ness. This includes the development ated with a range of human genetic of the oldest and most and progression of various diseases. disorders. exciting scientific Today, we know that genetic muta- tions can cause complex diseases, When discussing a complex disease endeavors. It is also a from diabetes to cancer, and that like ME/CFS, particularly a sensi- subject within ME/CFS genetic ‘predisposition’ can be a risk tive topic like inherited traits, it factor that shapes our health. helps to be mindful of at least three that remains poorly broad categories: classical genetics, understood. Our understanding of genetics has epigenetics, and pathogenic-host grown substantially. We can now interactions. » to page 4 Since people with ME/CFS can be read, map, interpret, and modify found within the same family more the building blocks that make up often than random association our DNA. Scientific advances now INSIDE would dictate, is there a possible allow us to identify genetic irregu- 2 SMCI This Quarter: A Summary of genetic component to ME/CFS? larities quickly and for a reasonable Our Work 5 SMCI Welcomes Two New Members to Its Board of Directors 6 What’s in a Definition? Finding a Common Language for ME/CFS 8 PEM: It’s Time to Retire the Term 9 Dr. Maureen Hanson: From Plant Biology to ME/CFS Champion 12 Advocacy in Action: 44 Members of Congress Unite for ME/CFS Funding 14 M.E. Too? Can the Women’s Health Equity Movement Bring Attention to ME/CFS? 16 Patient Voices 17 SMCI Answers Reader Questions 18 Your Support Fuels Our Efforts 19 Reflections from Our President Carol Head NEWS AND UPDATES SMCI This Quarter: A Summary of Our Work In this recurring section of RESEARCH work in recent months The Solve ME/CFS Chronicle, SMCI seeks to engage the entire ME/CFS community in research and works SMCI summarizes the to accelerate the discovery of safe and effective treatments. highlights of our work. Every • SMCI held its second annual Discovery Forum, “a new era in ME/CFS research,” which brought together leaders from academia, government quarter you see our SMCI team agencies, private clinics, and biotech and research institutions to discuss in action and our relentless developments in ME/CFS research. efforts to make ME/CFS • SMCI announced the recipients of its 2017 Ramsay Program Awards which are funding five ME/CFS research proposals spanning six coun- understood, diagnosable, tries. The teams are exploring diverse promising areas including immuni- and treatable. ty, metabolomics, epigenetics, and the gut microbiome. • SMCI announced the departure of Dr. Zaher Nahle. An international search is underway for new talent to fill the position of Vice President for Research and Scientific Programs. • SMCI announced that the Request for Applications for the 2018 Ramsay Award Program cycle to open in May. SOLVE ME/CFS INITIATIVE INFLUENCE and EDUCATION work in recent months PROFESSIONAL STAFF SMCI is a go-to source of trusted, up-to-date medical information, current research, and policy work on ME/CFS and seeks to disseminate this infor- Carol Head mation effectively. President and CEO • SMCI, an official partner with the impact team for the filmUnrest , helped Emily Taylor launch 10 days of house parties in conjunction with the film to raise Director of Advocacy and awareness and education for ME/CFS. Communications • SMCI partnered with the widely- circulated women’s magazine Ms. and Carolyn Mayo connected them with renowned author Julie Rehmeyer to produce an Director of Development impactful piece on ME/CFS. The story “Pain and Prejudice”, which focuses Allison Ramiller on the struggle that women face in receiving a diagnosis for ME/CFS, was Scientific Administrator published in the Winter 2018 edition of the magazine. Diana Kerubo Sagini • SMCI announced the kick-off of their 2018 Webinar series. The first in- Development Coordinator stallment, “Hot Areas in ME/CFS Research: 2018”, will be held in May. Karina Belyavskiy • SMCI Scientific Administrator Allison Ramiller participated in a panel Controller / Human Resources / discussion on ME/CFS at the University Of California Berkeley School Of Administration Public Health. Sarah Jones • SMCI launched a new video log series, “Fighting for ME with Carol Head,” Communication and Engagement in which President and CEO Carol Head shares her views on current Coordinator issues in the ME/CFS space. 2 The Solve ME/CFS Chronicle NEWS AND UPDATES SOLVE ME/CFS INITIATIVE BOARD OF DIRECTORS Each board member is a patient or has a family member affected by this disease. John Nicols, Chair Redwood City, CA Vicki Boies, Vice-Chair Berkley School of Health Panel Chicago, IL Discussion on ME/CFS including (left to right) David Tuller, Dr. Lily Chu, Dr. Ron Davis, Allison Ramiller Michael Atherton, Treasurer (SMCI), and Dr. Jose Montoya (SMCI Arlington, VA Research Advisory Council) Beth Garfield, Esq., Secretary Los Angeles, CA ADVOCACY work in recent months Brett Balzer Through government advocacy, SMCI strives to enhance programs that Chicago, IL serve patients and researchers and fights for an aggressive expansion of research funding. Andrea Bankoski Chapel Hill, NC • Following a meeting with SMCI and in partnership with #MEAction, Con- gresswomen Ana Eshoo and Zoe Lofgren rallied 10% of the U.S. House of Representatives in a letter and appropriations request for ME/CFS. Diane Reimer Bean, Esq. Bethesda, MD • SMCI staff and board members stormed Congress to advocate for funding for ME/CFS from the Congressionally Directed Medical Research Stephen Curry Programs. Pine River, MN • SMCI participated in the Chronic Fatigue Syndrome Advisory Committee (CFSAC) biannual meeting. Mary Dimmock Waterford, CT • SMCI joined Californian advocates in a Sacramento meeting with the California Department of Public Health to discuss improving California’s William Hassler response to ME/CFS Washington, DC • SMCI solidified our continued partnership with the National Organization for Women, meeting in Washington DC. NOW has published newsletter Carol Head pieces regarding ME/CFS. Los Angeles, CA • SMCI signed a joint letter and authored a supporting letter for Dr. Lily Chu’s ICD-10 proposal, “Proposal for modifications to ICD-10-CM for Barbara Lubash Chronic Fatigue Syndrome, Myalgic Encephalomyelitis, and Post-viral Corona del Mar, CA fatigue syndrome,” to the ICD-10 Coordination and Maintenance Aaron Paas Committee. n New York, NY Sue Perpich Minneapolis, MN Rick Sprout Fairfax, VA SMCI staff Emily Taylor and SMCI Janice Stanton Harrison, NY board member Rick Sprout visiting Capitol Hill to advocate for ME/CFS research funding Christine Williams Chevy Chase, MD www.SolveCFS.org 3 COVER STORY » from page 1 All in the Family: Is ME/CFS Inherited? (cont’d) CLASSICAL GENETICS is the study of and genetic relationship are risk fac- PATHOGENIC-HOST INTERACTIONS genetics that hinges on how differ- tors. This doesn’t mean that either The interplay between humans and ent genetic traits are passed down one is necessarily a cause. A 2005 microbes and consequence for our from parents to their offspring. study by Underhill & Gorman found health has historically been a major Our genes contain instructions for about 20% of patients with sporadic driver of medicine and research— the building and functioning of ME/CFS reported having a family and this now extends to the level our body. The collection of genes member with ME/CFS. In 18.3% of of our DNA. Genetic variations play known as the genome is grouped these patients, the affected relatives a large role in immunology and into structures called chromo- were genetically related and 70% have been associated with suscep- somes. Most humans have 23 pairs of the genetically related family tibility to various disease states. of chromosomes and half of the members were not living with the This variability is thought to be the genes are maternally or paternally patient. Much more work is needed results of long-term interactions derived. This is in addition to an- to better understand these reports, between hosts and pathogens. In other set of genetic material in the including larger groups and more many cases, pathogens hijack our mitochondria (known as the mito- robust methodologies. cellular machinery for their own chondrial genome) that is inherited survival. These pathogens can alter only from the mother. Variations in EPIGENETICS is a research field that a range of critical functions, includ- traits commonly seen in the popu- looks at changes in gene function ing immunity, metabolic regulation, lation, such as hair color, arise from and expression that are regulated and neurological function. Numer- random mutations in the DNA code by external factors. These changes ous viral and bacterial factors are (polymorphisms). Other mutations, do not involve alterations to the associated with ME/CFS and could most often those that are rare, can DNA sequence itself. For instance, be triggers—especially for individu- be less benign and cause diseases. DNA methylation—which entails als with genetic predispositions. In ME/CFS, we have yet to identify the addition of a methyl group to a mutation in our genome of mito- DNA and often turns a gene to the There are indications that differen- chondrial DNA that is responsible “off” position—is widely recognized tial gene expression could underlie for the disease—like other defini- as one epigenetic mechanism of ME/CFS, which would explain some tive mutations that cause diseases biological importance.
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