Former NBC correspondent on mission to fight Huntington’s disease

By Todd Cohen

[Note: This was written for NCPressRelease.com on behalf of HD Reach.]

CHARLOTTE, N.C. — In his 26 years as a correspondent for NBC News covering wars, disasters, atrocities and other human suffering, Charles Sabine often put himself in harm’s way, at times staring his own death in the face.

But the fear he sometimes felt on the job paled in comparison to the fear he experienced in 2004, when he was tested for and found to have Huntington’s disease, or HD, a relatively rare inherited brain disease.

Sometimes described as “the world’s cruellest disease,” HD causes the progressive loss of control of movement, thought and emotion, and typically results in death 15 to 25 years after onset of motor signs of the disease.

“What makes HD crueller than any other disease is that not just does it affect every aspect of a personality, rendering the victim unrecognizable to their family, but its unique genetic nature means that those family members are watching this often in the knowledge that they are going to suffer the same fate,” says Sabine, whose father died of the disease, and whose brother already is showing its physical symptoms.

Now 53 and the father of two young children, the British native and resident has made it his mission in life to connect physicians, scientists, patients, families, politicians and anyone else who is affected by or cares about HD, and in the process build a global community dedicated to finding better treatment and care of HD patients.

Because anyone who carries the disease form of the HD gene is certain to get the disease, differentiating it from all other diseases, HD is the focus of pioneering work that will have enormous impact for many diseases on issues ranging from research and treatment to care and patients rights.

HD is “a disease of the future,” he says.

“It can be researched as no other disease because you can study people before they get symptoms,” he says. “And it is a vanguard for so many constitutional issues of the future that are being faced now by HD sufferers, such as who should know you have the disease, who should have information and be privy to it, whether government, or life insurers or employers.”

Sabine will be a featured speaker during the 7th Annual Huntington Study Group Clinical Research Symposium and Workshops in Charlotte. The symposium, workshops, and educational and training programs will be held November 7-9 at the Omni Hotel.

Patients, families, caregivers, researchers and medical professionals are invited to attend.

The international gathering is jointly sponsored by Charlotte AHEC and the Huntington Study Group, or HSG, an international network of clinical researchers who study and care for patients and families with HD.

Reports on the latest clinical research on HD, now conducted at over 105 credentialed research sites in the U.S., Canada, Australia, New Zealand, Europe and South America, will be featured.

Workshops include networking for regional doctors and health care providers continuing education for medical professionals, and training programs for service providers, caregivers and local practitioners.

Sessions will examine the issues of local social and medical care that affect the caregivers who treat HD patients and families, including the work of groups such as HD Reach, a North Carolina-based nonprofit that has pioneered efforts to make sure patients and families throughout the state, particularly in rural areas, have access to HD care and resources.

While HD affects only about 30,000 people in the U.S., an estimate first cited 20 years ago, initial findings from new research in Canada and England show the disease is twice as prevalent as previously thought, Sabine says.

For years, he says, HD carried a “stigma and shame, and people have hidden it away,” he says.

His own uncle died of HD in 1992 in a care home for people with the disease, says Sabine, who did not even know of his uncle’s existence until after his death.

And because HD is age-related, he says, the number of people with the disease is surging with the graying of the population.

What’s more, he says, “huge swaths of the population have the disease but just don’t know about it, or have been misdiagnosed, or have had it hidden away.”

Now, however, a worldwide grassroots HD community has emerged in the wake of a “perfect storm” of factors, he says.

Since the HD gene was discovered in 1983, and a test for HD was developed in 1993, that community has grown through greater awareness about the disease, through the emergence of the Internet and social networking that have made it easier for people with HD to connect with one another and find information about the disease, and through the support of prominent people such as the family of folk singer Woody Guthrie, who had HD and died in 1967.

That global community is indispensable for making progress in every aspect of HD, particularly in clinical research, Sabine says.

“The more that families can get involved, the quicker we will have significant treatment of the disease,” he says. “Without them, research cannot move forward.”

And the pipeline of research offers a “crucial glimmer of light to families suffering from the disease,” he says. “It’s looking increasingly promising in the next few years that there could be successful clinical trials at slowing the progression of the disease.”

The possibility of developing a treatment to slow progression of the disease “is extraordinarily empowering,” Sabine says. “Without it, it would be impossible for people to deal with the disease.”

While HD affects far fewer people than HIV/AIDS, the global HD community should model itself on the HIV/AIDS community, which over 30 years developed “immense support, financially and politically, because of the number of people affected,” Sabine says.

“That kind of success only comes from having a collaboration that involves both the people who are working in research on the disease, and the people affected by it,” he says.

“I don’t think governments, the pharmaceutical industry and even universities are necessarily going to do what is right” for people affected by HD and those who live with them, he says. “We have to understand that it is the HD community that can best act for the interests of people suffering from the disease.”

While he is “pre-symptomatic” and not yet showing outward symptoms of the disease, Sabine says, he is “probably just too late to benefit from the real advantages” of progress in treatment and care of HD that he expects to emerge over the next 10 to 15 years.

But he also says progress “can happen only by people like me being involved now in the whole process of discovery.”

The most frightening aspect of the disease, he says, is having witnessed its progression in his father and now his brother.

“I know what my family’s next generation are going to have to deal with, and that’s a terrible thing for anyone to have to deal with,” he says.

So participation by HD patients and families in research is critical to easing their fear of the disease.

“I know that what I am doing now in terms of every aspect of the work I do, from having my body monitored very carefully, to the work I do as an advocate,” he says, “is making this disease less frightening for future generations.”

Huntington’s disease could help map and treat other hereditary diseases

By Todd Cohen

[Note: This article was written for NCPressRelease.com on behalf of HD Reach.]

CHARLOTTE, N.C. — Huntington’s disease, a relatively rare and fatal inherited brain disease known as HD, could serve as a model for gaining insights into other hereditary diseases, ranging from breast cancer to dementia, that affect millions of people.

“The average person has inherited six or seven genetic risks, most of them potential burdens they don’t know about,” says Dr. Ira Shoulson, professor of neurology, pharmacology and human science at Georgetown University, and founder and chairman of the Huntington Study Group, or HSG, an international network of clinical researchers who study and care for patients and families with HD.

Although it affects only about 30,000 people in the U.S., HD “in fact has implications for a variety of more common hereditary disorders,” says Shoulson, who also serves as director of the Program for Regulatory Science and Medicine at Georgetown.

Clinical research on HD, now conducted at over 105 credentialed sites in the U.S., Canada, Australia, New Zealand, Europe and South America, will highlight the 7th Annual HSG Clinical Research Symposium and Workshops on November 9, following two days of educational and training programs for researchers and clinicians on November 7 and 8.

The international gathering, jointly sponsored by Huntington Study Group and Charlotte AHEC, will be held at the Omni Hotel in Charlotte and will be open to HD patients, families, caregivers, researchers and medical professionals.

Workshops will include networking for regional doctors and health care providers, continuing education for medical professionals, and training programs for service providers, caregivers and local practitioners.

The symposium will feature reports on the latest research on Huntington’s disease, an inherited brain disorder that affects control of movement, thought and behavior.

Following the symposium will be an interactive community workshop, including discussions between patients, their families and researchers.

Sessions will examine issues of local social and medical care that affect caregivers who treat HD patients and families, including the work of groups such as HD Reach, a North Carolina-based nonprofit that has pioneered models to make sure patients and families throughout the state, particularly in rural areas, have access to HD care and resources.

A key focus will be on “progress being made to understand what [the HD] gene does or doesn’t do, so we can develop more rational therapies,” Shoulson says. “Our motto is, ‘Seeking treatment that makes a difference for HD patients and families.”

HD typically results in death 15 to 25 years after onset of motor signs of the disease.

HSG-conducted research, which over the past 20 years has included over 30 cooperative studies, receives sponsorship from government and private funds totaling several million dollars a year, Shoulson says.

That research, he says, has resulted in the development of one drug, tetrabenazine (Xenazine), which was developed by HSG and approved by the Federal Drug Administration in December 2009 for treatment of chorea, or involuntary movements in HD.

Six clinical trials that have enrolled a total of roughly 2,000 patients currently are underway.

“Incremental progress is being made,” Shoulson says. “We’re really looking now at therapies, not just to treat involuntary movements, but also some of the cognitive or intellectual impairment that develops in HD patients, and also some of the behavioral problems that develop.”

Shoulson was part of a research team, supported with funding from the National Institutes of Health, that in 1993 first identified the HD gene through blood tests on a large family in Venezuela that had HD.

“We knew it was a genetic disorder because of the hereditary patterns,” he says. “By identifying the gene, we could better understand what the gene was doing so we could develop treatments, and help people at risk of HD who choose to learn of their gene status.”

And HD research, which is sponsored by government, foundations and industry, has implications for research on a broad range of other diseases, he says.

“As we unravel the human genome, we’re learning more and more about hereditary disorders that have relevance to HD,” Shoulson says. “Down the line, we will have more information, so people should be attentive to what we learn in HD because it may affect them.”

Critical to HD research and clinical trials, he says, is the “need to have people volunteer to participate in these studies all over the world, including the North Carolina region.”

In contrast to HD, which results from a single abnormal gene, the origins of many diseases such as Alzheimer’s, Parkinson’s and Amyotrophic lateral sclerosis, or ALS, also known as Lou Gehrig’s disease, are largely unknown.

Because the average person has a handful of genetic risks, and because HD has implications for many common disorders such as Alzheimer’s and Parkinson’s, HD research is critical, yet it is a continuing challenge to find volunteers to participate in HD clinical trials, Shoulson says.

“The challenge is how to do this interesting, important research in a relatively small community of research participants and advocates,” he says. “How we deal with these new genetic risks that we learn about will be an important model for living with other genetic burdens that people will learn about through advancing technology.”

Huntington’s disease could hold key to Alzheimer’s treatment

By Todd Cohen

[Note: This article was written for NCPressRelease.com on behalf of HD Reach.]

DURHAM, N.C. — Huntington’s disease, or HD, an inherited brain disorder that affects roughly 30,000 people in the U.S., could hold the key to finding treatments or even a cure for Alzheimer’s and other major neurological disorders that affect millions of people.

What sets HD apart from other central nervous system disorders and makes HD research critical is that everyone who carries the abnormal gene will get the disease.

“HD really is the paradigmatic neurodegenerative disease because a single gene leads to degeneration of certain parts of the central nervous system of the brain,” says Dr. Donald Lo, associate professor in the Department of Neurobiology at Duke University Medical Center.

“So most researchers and the pharmaceutical industry feel if you could cure Huntington’s disease, you would gain tremendous insight into treating many of these other neurodegenerative disorders,” such as Alzheimer’s, Parkinson’s and amyotrophic lateral sclerosis, or ALS, also known as Lou Gehrig’s disease, he says.

HD research will be the focus of the 7th Annual Huntington Study Group Clinical Research Symposium, which will be held November 7-9 at the Omni Hotel in Charlotte.

The event is jointly sponsored by Charlotte AHEC and the Huntington Study Group, an international network of clinical researchers who study and care for patients and families with Huntington’s disease.

The Symposium also will feature networking for regional doctors and health care providers; continuing education for medical professionals; and training programs for service providers, caregivers and local practitioners, including workshops focusing on the latest advances in medical and family care.

Unprecedented levels of philanthropic funding and research are focused on HD, says Lo, who directs the Duke Center for Drug Discovery.

The Huntington Study Group network of nearly 100 medical centers, along with pharmaceutical companies and academic labs, are developing molecular strategies to block the production of the HD gene or slow the progression of the disease, Lo says.

“Many of these are very exciting new drug candidates,” he says.

HD, which affects control of movement, thought and behavior, typically results in death 15 to 25 years after onset of motor signs of the disease.

In contrast to HD, which results from a single abnormal gene, the origins of Alzheimer’s and Parkinson’s are largely unknown, Lo says.

Age is the greatest risk factor for Parkinson’s and Alzheimer’s, which affects over 5 million people in the U.S., a number that is expected to grow to 20 million within 50 years, he says.

“So with the aging population, the prevalence is expected to go up tremendously,” he says.

Lo began to focus his research on HD after spinning out a biotech firm from Duke in 1999 to develop new ways of discovering new drugs and drug targets for neurological disorders while also trying to break some of the “logjams” in the pharmaceutical industry slowing research into major diseases.

“We worked on HD because of the absolutely clear genetics of the disease,” he says. “If you carry the disease form of the gene, you will absolutely get the disease during your life.   The other major neurological disorders have genes that are risk factors but only a small fraction of those genes lead directly to the disorder…”

HD research now is getting a total of over $100 million a year from three philanthropic funders, including CHDI Foundation, Hereditary Disease Foundation, and Huntington’s Disease Society of America, plus about $55 million from the National Institutes of Health.

That philanthropic investment, representing over 10 times what HD research had received in the past, has driven unprecedented levels of collaboration among academic labs, biotech firms and pharmaceutical companies, Lo says.

“There is growing commitment in the pharmaceutical industry towards Huntington’s disease,” he says.

Philanthropic investment has stimulated interest from industry, which has in past years been more committed to more prevalent diseases because of their perceived market size, Lo says.

In addition to serving as the annual get-together for the HD research and patient communities, providing an opportunity to discuss and evaluate new and existing strategies for treating HD, the Symposium also focuses on advances in local social and medical care that are critical to caregivers who treat HD patients and families.

“It puts a real spotlight on a disease that affects many people in the state of North Carolina, a state that has not had a strong statewide infrastructure for taking care of HD patients and patient families,” Lo says.

But that is changing, thanks to HD Reach, a North Carolina-based nonprofit that is pioneering efforts to make sure patients and families throughout the state have access to HD care and resources.

“Historically, HD patients have been best taken care of in major urban areas where there are major medical centers that have specialized clinics for HD,” says Lo, who serves as vice president of HD Reach. “In more rural states like North Carolina, the urban model doesn’t work because much of the population doesn’t live in urban areas.”

The goal at HD Reach, he says, is to “create a different kind of care network for HD patients and families.”

While advances in medical research and technologies will be a big focus of the Symposium, it also will look at issues of local social and medical care that affect the caregivers who treat HD patients and families.

The work of HD Reach and similar efforts in other states to find ways “to bring quality care to patients in non-urban areas,” Lo says, is a major concern for the Huntington Study Group.

North Carolina pioneering care for Huntington’s disease patients

By Todd Cohen

[Note: This article was written for NCPressRelease.com on behalf of HD Reach.]

WINSTON-SALEM, N.C. — North Carolina has emerged as a leader in providing care for patients of Huntington’s disease, an inherited brain disorder that affects control of movement, thought and behavior, and leads to death.

While no treatment has been found to stop or slow the progressive loss of mental faculties and physical control from HD, a worldwide network of nearly 100 medical centers known as the Huntington Study Group has emerged over the past 20 years to provide clinical treatment for the disease.

In North Carolina, which is home to HD centers at Duke University and Wake Forest Baptist Medical Center, and to a genetic testing center at UNC-Chapel Hill, a Raleigh-based nonprofit known as HD Reach is pioneering efforts to make sure patients and families throughout the state have access to HD care and resources.

“We have a huge state,” says Dr. Francis Walker, a professor of neurology and director of the Movement Disorder Clinic at Wake Forest Baptist. “Not everyone can go to Duke or UNC or Wake every month” for treatment.

In recognition of the work of HD Reach, the Huntington Study Group will hold its 7th Annual Clinical Research Symposium on November 7-9 in Charlotte. The gathering, to be held at the Omni Hotel, is expected to attract leading scientists and medical professionals from throughout the world.

More than 30,000 Americans have been diagnosed with HD, and at least 250,000 others are at risk of inheriting it from a parent. Yet fewer than 10 percent of people with a parent with HD get tested for the disease, Walker says.

And because HD typically results in death 15 to 25 years after onset of motor signs of the disease, people with HD and those at risk of inheriting it often live with a “large burden of psychiatric manifestations,” he says. “It can tear families apart when it becomes a problem.”

Those psychological manifestations can include anxiety, irritability, depression and aggressiveness, as well as subtle changes in the brain that may be generated by the disease even before diagnosis.

Some studies have found that as many as one in four people with the HD gene has attempted suicide, says Walker, a member of the Huntington Study Group and medical advisor to HD Reach.

HD Reach is trying to change the culture of living with the disease, he says, noting that patients and families now have online access to information about HD that simply did not exist 20 years ago.

Complementing the long-term work of developing new HD drugs, an international effort supported with $80 million a year in private funding, HD Reach is working in North Carolina to help educate patients and their families about therapies that can help them live with the disease and cope with its psychological impact.

The disease is “quite rare,” Walker says. “I know of a lot of neurologists who have never seen HD. A small group of physicians have seen it. Most internists and family physicians have never seen it.”

So a big challenge HD Reach is trying to address is “helping patients find someone who could provide them with medical care.”

And in a big state in which many people with HD do not live within a short driving distance of an HD center, HD Reach is working to connect patients with medical and health care professionals through a phone hotline and through telepsychiatry that allows patients in remote locations to speak with a therapist at a primary care center.

“Our job is to alleviate suffering,” Walker says. “While we’re waiting for a cure, let’s alleviate suffering using a model that is more grassroots.”

At the same time, the HD centers in the state are conducting clinical research trials of promising new therapies, and scientists throughout the world are engineering new drugs.

“Now we’ve identified the gene” that causes HD, Walker says. “We have a better understanding. Treatment trials are using therapies that are more and more likely to be successful.”

A key challenge for patients is to get tested for HD if a parent has the disease.

While there are no clinical trials for people who have inherited the HD gene but are not yet showing symptoms of the disease, those trials should be available within 10 years, Walker says.

What is important, he says, is that people become more informed about the disease and consider participating in clinical trials.

“We’re going to eventually find something that works,” he says. “Everybody is working on that. We have an unseen army.”