Laboratory photos courtesy of the Huntington's Disease Society of America (HDSA) and the Leslie Thompson Laboratory at University of California-Irvine. Sabine photo courtesy of the British Chamber of Commerce in Japan (BCCJ 2012).
When the Eastern block countries fell, he was there. When Middle East problems erupted, he was there. When a positive result to a genetic test for Huntington's Disease (HD) placed him on the frontline, former Emmy-Award winning broadcast journalist and SLAS2013 keynote Speaker Charles Sabine took up the cause to promote scientific research. Advocacy gives a new context for his past experiences as he helps connect the chief protagonists involved in finding a treatment.
In his 26 years with NBC News Sabine covered 12 wars, six revolutions, four earthquakes, two tsunamis and other world events. "When I went through these experiences the first time, they were just that – an individual experience," Sabine explains. "In doing what I now do as an advocate for patients, all of those separate experiences were given a meaning and a connectivity they didn't have before. Instead of being interesting playing cards stacked up in a deck, they all now are relevant and interlocked in a new role in my life."
Sabine will share his perspective during SLAS2013, to be held January 12-16, 2013 in Orlando, FL. "I want researchers to realize just how important the work they do is from day to day," Sabine stresses. "While they may feel several degrees of distance from the patient; the fact is that collaboration across the fields is what has brought us to this point. We see light at the end of the tunnel for people like me." Sabine is the closing keynote speaker on Wednesday, January 16 at 3:45 p.m. He also co-leads a special session, Navigating Neurodegenerative Disease Research to Patient Therapies, on Wednesday at 1:30.
Doors were open to Sabine that made his situation unique and his transition to advocate possible. Being in the communications field and holding a position with a large corporation such as NBC gave him a platform other HD patients did not have. "I was in a position to be something that was desperately missing from the HD community of the world, which was someone who could speak for them," Sabine says. He doesn't compare his name recognition to that of Michael J. Fox and the Parkinson's Disease awareness efforts, but admits that Fox's efforts have inspired him to speak out for the HD community.
"Up until the last 24 months, there has been a complete absence of any kind of hope for any kind of treatment for HD. Not even anything significant for alleviating the symptoms, let alone the disease's progression," Sabine explains. "Now the pipelines hold some clinical trials that do show promise. It's an incredibly important time; a pivotal moment."
Scientists, researchers and academics, as well as large organizations representing the pharmaceutical industry and government populate Sabine's speaking engagements.
Among his favorite audience members are the post-doctoral students and those new in the research field who are deciding what they want to study. He likes to think that his presentations might influence the choices they make for careers. "I always try to convey to them the importance of what they do," Sabine says. "They may not be able to meet patients, so they may not realize the importance of their work. I am able to convey to them how important their work is to patients."
He also addresses family groups all around the world. "I try to help them realize that their situation is not as hopeless as they might have been led to believe, and that they need to get involved in a proactive collaboration such as a clinical trial," he says. He holds several advisory positions that include HD Buzz, a website of articles written by scientists who make the science understandable to the lay audience, and the International Society for Stem Cell Research (ISSCR), an independent, nonprofit organization formed in 2002 to foster the exchange of information on stem cell research. These organizations offer yet another platform for educating others about the hereditary neurodegenerative disease. The disease is characterized by a triad of progressive motor, cognitive and emotional symptoms. Each child of an affected parent has a 50 percent risk of inheriting HD, usually in the third or fourth decade of life, though children as young as two years and adults in their 80s may also develop symptoms.
In 1983, the Huntingtin gene (HTT) became the first disease-associated gene to be molecularly mapped to a human chromosome. The inability to fully understanding the disease caused the lag in how to treat it. While advances in gene science and therapeutics have yielded new drugs, finding a delivery agent to get these drugs into the brain has been another roadblock. "For much of the body, as I understand it as a lay person, it's simple to deal with. The brain is infinitely more complex. It also has this brilliant natural mechanism that protects it, which ironically makes treatments hard to get in," Sabine explains.
"I try to convey to families what they often don't realize: how much work is going on," he continues. "It's shocking to these families that there are so many people who are so dedicated to finding treatments."
The selflessness of researchers touches him. "You meet clinicians and researchers who have no personal family interest in HD who become completely obsessed with it," Sabine concludes. "They are determined to find treatment. It's lucky for us, and it makes people feel better to know that some very smart people out there are literally devoting their lives to this disease. They get home late, and they don't see their kids at night in order to try and help us."
Sabine's messages not only raise the profile of HD, but also focus on freedom of scientific research. He spoke to the European Parliament on the subject and contributed to the drafting of Senator Ted Kennedy's Genetic Information Nondiscrimination Act (GINA).
Sabine stresses that he is not a scientist, but HD activism requires him to be intimately involved in science. "I was particularly bad at scientific subjects when I was in school," he says with a laugh. "I think it's ironic when I stand up on stage with Nobel Laureates, talk to scientists and debate genetics. My old science teacher would be amazed."
One communications project in which he carefully interprets scientific advances was a video postcard from the 2012 conference of the Cure Huntington's Disease Initiative (CHDI). Posted to the SLAS LinkedIn discussion group, the postcard features Sabine as HD correspondent sharing the latest research from four groups pursing gene silencing. In this approach, drugs are created to adhere to the messenger RNA molecule produced by the HD gene. Sabine describes that on a cellular level, this would appear as a short interfering RNA (siRNA) with an attached protein blocking onto the sequence of a target gene and chopping it up so that it can't make the mutant HD protein that causes the disease.
"Sometimes I stop and think that if I knew a bit more science, it would be better. I have come to realize that, no, it actually helps that I don't know the science," Sabine says, explaining that putting everything in lay terms helps educate the groups of families he represents. "It's hard for people who understand the science to know what and how to convey information to those who don't know it without a liaison."
Before the world of science enveloped Sabine, he had an interest in television and radio. Raised and educated in London, he studied media there at the BBC. "It wasn't that I wanted to be a journalist. I wanted to work in television and radio," says Sabine, who joined NBC in 1982. "I fell into news because NBC was advertising for a production assistant in its London bureau. Later I realized that I was interested in journalism."
For Sabine, this was a way to see the world. "My father, his father and generations before that had been in the Army. That was the only way to see the world then, unless you happened to be incredibly rich," Sabine explains. He was, in fact, born in an Army camp in Germany. Enlisting would have been an obvious course.
"I was fortunate to discover a way to see the world without actually having to polish boots and march up and down," he continues. Once on the inside of broadcast journalism, it was obvious to him that he had chosen the correct career path, even though like his father and grandfather before him that course frequently led into battle.
"I was always traveling for NBC. Not a life to have a family with, to be sure," he comments, adding that he considers himself incredibly privileged to have a front-row seat for the world events of the 1980s, 1990s and 2000s.
"I thought I would be with NBC for a couple of years, but it lasted for 26," Sabine says. Although based in London, the global theater of news drew him away, typically, for seven months of the year. "It just happened to be that there were so many momentous occasions around the world. It taught me a lot of lessons about the human condition. All aspects of it, good and bad.
"The greatest impression I took from all of these experiences is the strength of the human spirit and the surprising amount of stress the human mind, body and spirit is capable of withstanding. Individual stories of courage, strength and purpose affected me most. They are often stories from which I draw when I am giving my talks," Sabine continues.
Stories include the nurse from Baghdad who, after the most recent Gulf War, stayed in the mental asylum in which she had worked as the only remaining staff member to protect the patients who would have died without her. No pay, medicine, food or water compensated her efforts, but she remained to fight off the invading looters.
"Individual acts of courage like that have stayed with me the most and changed my perspective on priorities," Sabine observes. "Traffic on the freeway becomes less of a big deal."
Sabine admits that discovering a new sum for his experiences is a surprising and exciting development in his life, particularly in the midst of a health crisis. When he turned 40, he began to face up to a lot of mid-life decisions, including the one to be tested for HD. "I felt that without the knowledge, I wasn't empowered to make decisions about relationships, job opportunities and having children," he explains. "I felt that I needed that empowerment. I reached a point in which I had to know."
A simple blood test Sabine took in 2005 confirmed that he carried the genetic mutation for HD. This was 11 years after his father and brother received positive test results.
"Many different things motivated me to take the test at that time. In 1994, my father was one of the first to take the newly developed test. It had been introduced just months before he began to show signs of the disease. My brother was tested quickly after my father tested positive. He already had four children at that time. "Because I didn't have children and didn't plan to have children, I chose to do what the vast majority of people choose when facing genetic disease, which is to not take the test."
He notes that of those who know they are potentially carrying the HD gene, 85 percent in Europe and 90 percent in America choose not to get tested. Most of this is tied to insurance and employment protection issues. And equal to these issues has been the lack of treatment for HD. Why get tested for a disease which cannot be cured when your health insurance may be cancelled, your job threatened and your life turned upside down?
Initially, the positive test result didn't change his work much. "I had to get my head around the shock of it, so I carried on with what I was doing at that time as a correspondent for NBC," he says. He returned to Baghdad within weeks of receiving his results. "The instinctive first reaction for everyone who has a test like that is to not tell anyone. You have to get your head around what you are going to do. Most people don't tell until they actually get sick," he continues.
"It's an incredibly complicated situation once you have been tested for a disease that is as radically encompassing as HD. There are so many different ways in which the disease can manifest itself. There are certain fields in which you are unemployable. You couldn't be an active police officer, soldier, judge or anything that requires your judgment when other people rely on you," Sabine says. He offers another example in his own career path. Making decisions for a television crew in a war zone was not a good place for impaired judgment, and stress is particularly difficult for HD patients. He realized that this was the time to speak for the HD community.
"Quite literally there were lots of people who could report what was happening in Baghdad, but no one could raise the profile of this disease. It became obvious that's what I had to do. If I don't, it will be a terrible missed opportunity. Within a few years, I won't be able to continue. If I don't do this now, who knows if there will ever be anyone who can," he says.
There were other factors that contributed to his decision to be an advocate. Traveling, speaking and writing for the HD cause had to be less stressful than sitting in a war zone. In addition, Sabine wanted more time with loved ones. "I didn't want to be away from my family," he explains. "When the time you have left is relatively short, you don't want to spend it in a bunker in Baghdad."
While his role as an advocate for families coping with HD takes him all over the world, most days he is peacefully at home, alternating between work and childcare. "Most days involve batting kids away from the computer," Sabine admits with a laugh. He estimates that his advocate work, paired with raising his children, Breezy, 4, and Roman, 17 months, requires equally as many hours as his job with NBC.
"I find that to my surprise, for someone who has stayed away from having children for so much time, how rewarding it is to spend time with them," he says. Sabine and wife, Nicole, joyfully received the news that both of their children tested negative for HD. Another life-change was the move from the big city to the countryside. The sheep-dotted, rolling hills of Cotswolds in Gloucestershire, England, provide its own kind of curative tonic. "Every day I am out walking with the dog and the four-year-old and that's lovely," he remarks. "It's a complete change from my life before."
Free time is limited. Sabine loves to play golf, but admits that with the children and his schedule, it is difficult to get away. "I love lots of things like golf and I do them whenever I can," he says. "Scientists have found with a degree of certainty that exercise helps fend off HD and other types of dementia. So I have to do what I hate doing, which is go on the treadmill. I always feel better afterward."
As Sabine mentions, there have been more advances in HD research in the last 24 months than there have been in the last 20 years. He shares highlights from the CHDI conference that include:
• Gene silencing using antisense drugs, such as the one in the pipeline at Isis Pharmaceutical. Testing in monkeys revealed that HD drugs reached all parts of the brain and were tolerated. Isis has applied to the FDA to begin human trials within the next 24 months.
• A gene silencing project, conducted by Beverly L. Davidson, Ph.D., of the University of Iowa, in which the mutant copy of the HD gene (mHTT) is suppressed more than the healthy copy of the gene.
• A method that selectively suppresses production of mHTT in the brains of sheep. A team led by Neil Aronin, M.D., University of Massachusetts, and a distinguished group of scientists, selected sheep brains, because like humans, sheep have particularly large brains. The size is important as it will reveal to scientists the capabilities of drug delivery to the correct portions of the brain – something that is much more difficult to accomplish inside a larger brain.
• A new site-specific delivery method for siRNA drugs developed by Alnylam Pharmaceuticals, the University of Kentucky and Medtronic during preclinical trials with primates. Using a pump and catheter, the therapy is delivered directly to the part of the brain most affected by HD. Details were published in the journal Experimental Neurology.
• Posters from post-graduate students, such as Amber Southwell from the University of British Columbia, Vancouver, that offer a source of hope as newcomers to the field bring a fresh perspective and new ideas. Southwell collaborated with researchers she met at last year's CHDI conference to develop a mouse model of HD that is genetically similar to human HD, providing an improved model for testing new HD drugs.
At the conference, CHDI also introduced plans to expand into systems biology in its research. Systems biology embraces a holistic view in research that considers that nothing in biology happens in isolation. This initiative will explore how to identify the genes that exist in some HD patients that extends the time before the onset of disease symptoms.
The idea is that if the disease cannot be cured, perhaps its symptoms can be delayed, as described in the video postcard by Leroy Hood, M.D., Ph.D., president and co-founder of the Institute for Systems Biology in Seattle, and a JALA scientific advisor. The Hood Group is developing strategies, technologies and knowledge that will lead to medicine that is predictive, personalized, preventive and participatory – P4 Medicine. Hood presented "Systems Approaches to Neurodegenerative Diseases and the Emergence of Transforming Techniques" at CHDI.
These advances hold the promise that Sabine wants to give back to the HD community. "Words cannot convey how extraordinary the people are within this community," Sabine says. "The caregivers, for example, give up their entire lives to look after people and perform every function for them. It's incredible. I could never do it! I think, ‘how can they be that patient, devoted and loving?' I'm lucky to meet these people and try to do something for them by communicating with decision makers."
September 24, 2012