Welcome to e-Parkinson Post.

In this issue, we talk to Dr. Matthew Farrer, who is the newest member of the Parkinson Society Canada Scientific Advisory Board, about one of his recent findings relating to genetics and Parkinson’s. Dr. Farrer is a world expert in this area.

We also offer a glimpse at some of the innovative research projects that are being funded as a result of the national research program’s latest competition.

This issue also highlights the recipients of the David Simmonds Parkinson’s Leadership Award and the Mimi Feutl Award, honouring volunteers who bring energy and commitment to the Parkinson’s cause.

The advocacy report will bring you up to date on the national population health study of neurological conditions and our advocacy efforts on Parliament Hill.

With the final numbers in for Parkinson SuperWalk, we would like to thank everyone who contributed to its success. The national prize draw winners are listed.

During the upcoming holidays, please take the time to reflect on the past year. Have we delivered value to you and your family in any way? Have you been moved by a story we have shared? Have we enlightened you on your Parkinson’s journey? Have you been inspired by an up and coming Canadian researcher? Whatever your reason, please consider supporting Parkinson Society Canada by making a special year-end donation. Your gift will help us be there to provide the education, research, advocacy and support services that so many Canadians depend on. Click here to make your donation today.

Please leave a note in the Comments section to let us know what you think of the newsletter and articles. Your feedback will make this publication better. And if you really enjoy this publication, please pass along the link to someone you know so that they may enjoy it too.

Wishing you all the best of the season.

Marjie Zacks

Editor

Parkinson Society Canada is pleased to welcome Dr. Matthew Farrer to the Scientific Advisory Board. A world expert in the genetic aspects of Parkinson’s disease and molecular neuroscience, Dr. Farrer was appointed, in August 2011, as the Dr. Donald Rix B.C. Leadership Chair in Genetic Medicine at the University of British Columbia (UBC). He also holds the position of Canada Excellence Research Chair in Neurogenetics and Translational Neuroscience at UBC. Dr. Farrer is a Professor in the university’s Department of Medical Genetics and directs the Centre for Applied Neurogenetics (www.can.ubc.ca) in the Brain Research Centre.

Dr. Matthew Farrer, Member, Scientific Advisory Board. Photo by: Martin Dee, UBC Public Affairs

Dr. Farrer and his team have helped identify several genes involved in Parkinson’s, by analyzing DNA from families in more than 20 countries on five continents and collaborating with the doctors who work directly with the patients. His most recent gene discoveries, published in the American Journal of Human Genetics in July and September 2011, include the identification of genetic mutations that cause late-onset Parkinson’s disease in Swiss and French families in which many relatives had the disease. The discoveries have been extended and independently validated in many families worldwide.

Dr. Farrar was formerly a Professor of Molecular Neuroscience and Director of the Division of Neurogenetics and the Transgenic Core Facility at the Mayo Clinic in Jacksonville, Florida. In 2008, he was named a Mayo Clinic Distinguished Investigator, the clinic’s highest award for research excellence. He is a founding member and Scientific Director of the Genetic Epidemiology of Parkinson’s Disease Consortium (GEO-PD). Dr. Farrer is a new member of the Parkinson Society Canada Scientific Advisory Board and also presently serves on the Executive Scientific Advisory Board of the Michael J. Fox Foundation.

Dr. Farrer received his PhD in human genetics from St. Mary’s Hospital Medical School, Imperial College, London, UK. He was a Postdoctoral Fellow in Medical and Community Genetics at the Kennedy-Galton Centre, St. Mark’s National Health Service Trust, Harrow, UK and held a Senior Postdoctoral Fellowship at the Mayo Clinic, Jacksonville, Florida.

As recently as 15 years ago, the idea of Parkinson`s disease having a genetic influence was considered a heresy. “If you read any medical or neurology textbook, it would say Parkinson’s disease is a sporadic disorder. There is no heritable component,” says Dr. Matthew Farrer, Canada Excellence Research Chair in Neurogenetics and Translational Neuroscience at the University of British Columbia (UBC).

That viewpoint is changing. Today, close to 20 regions of the human genome have been identified as contributing to Parkinson’s. “Within seven of those regions, mutations in specific genes have been shown to segregate with disease down the family line, and consequently are predictive of you manifesting the disease,” says Farrer. “We all have something in our genome that predisposes us to one disease or another. Parkinson’s is just another example of that.”

A molecular geneticist and neuroscientist with a special interest in Parkinson’s and Lewy body dementia, Farrer invites individuals and families with a history of Parkinson’s to donate blood and provide basic clinical and family history information. He then maps gene mutations, most recently using advanced DNA sequencing technology that has made the process less laborious and more affordable.

This work is paying off. In one of his most recent discoveries, by comparing cousins with Parkinson’s from a single large family, Farrer and colleagues found a mutation in vesicular protein sorting 35 (VPS35), a protein involved in recycling membrane-associated proteins within cells.

What’s different about the VPS35 mutation is that it is not simply a risk factor. “This is a very specific cause of Parkinson’s,” says Farrer. “It’s a single nucleotide change that leads to a single amino change in a single protein. Family members who inherit this mutation develop the complex syndrome we call Parkinson’s. It’s an amazing discovery that gives us firm ground to build on.” The average age of onset for VPS35-parkinsonism is about 55, compared to 60 for most forms of late-onset Parkinson’s.

The research, published in the American Journal of Human Genetics in July 2011, was validated by publication, in the same issue, of an identical finding by a separate group of researchers, using totally different families from another part of the world.

However, Farrer notes, “Finding a gene is just the beginning. What’s more important is taking that information and translating it into something useful.” So, Farrer and his team of neuroscientists are introducing mutant VPS35 protein into organisms to determine exactly what it does in brain cells. They want to get to the core reason why neurons in the area of the brain, known as the substantia nigra, die in Parkinson’s. “The leads we get translate into tests and models that pharmaceutical companies use for drug screening,” say Farrer.

Both individually and as a network, the major genetic discoveries in Parkinson’s – alpha-synuclein, DJ-1, EIF4G1, LRRK2, Parkin, PINK1 and now, VPS35 – are providing targets for new therapies that hold the promise of addressing the underlying causes of the disease not just the symptoms. “That’s the wonderful thing about molecular genetics in Parkinson’s, it suggests we might halt, in effect, prevent this condition, and provides the tools to accomplish it,” says Farrer.

For more information on the cutting-edge research undertaken at the Centre for Applied Neurogenetics at the University of British Columbia, visit www.can.ubc.ca.

Here are just some of the innovative research projects currently funded through Parkinson Society Canada’s National Research Program:

Dr. Connie Marras
Staff Neurologist, Movement Disorders Centre, Toronto Western Hospital
Assistant Professor of Neurology, University of Toronto
Pilot Project Grant
$45,000

Environmental determinants of age at onset of Parkinson’s disease in LRRK2 G20198 mutation carriers
People who carry a mutated gene known as LRRK2 are at high risk for Parkinson’s. However, not everyone with this mutation gets the disease. Dr. Connie Marras is investigating environmental factors that may tip the balance for susceptible people. As part of an international study, Dr. Marras, a neurologist at the Toronto Western Hospital Movement Disorders Centre, is administering a questionnaire to identify environmental risks and protective factors shared by people with LRRK2 who developed Parkinson’s. Finding out what protects people with this gene from the disease is just as important as discovering why they develop it, says Dr. Marras. “If we better understand protective factors or risk factors for the disease, then it would lead immediately to research to find out how we can leverage that information.”

Dr. Mario Masellis
Clinician Scientist, Department of Medicine, University of Toronto
Staff Neurologist, Sunnybrook Health Sciences Centre
New Investigator Award
$90,000 over two years

Parkinson’s related dementia: a pharmacogenomic study of cholinesterase inhibitors investigating cognitive benefit, motor worsening and brain SPECT
About half of everyone with Parkinson’s disease will eventually develop dementia or some form of cognitive impairment, including visual hallucinations. To treat the hallucinations and diminished memory, concentration and focus, doctors use a class of drugs called cognitive enhancers. At the University of Toronto, Dr. Mario Masellis is investigating the way people with Parkinson’s and Lewy body dementia, a related disease, change after receiving these drugs. By matching the changes to people’s genetic profiles, Masellis hopes to predict who will respond well to these medications and who will have side-effects. “One side-effect is that your motor function can sometimes be made worse,” says Masellis. “It would be nice to know in advance who would likely have that negative effect, to better target therapy directly to individuals.” Using a special scan called a SPECT to observe the effects of these drugs on blood flow in the brain, Masellis also hopes to develop a painless biomarker to help guide treatment and identify people who could benefit most from these drugs.

Dr. Clinton McCracken
Post Doctoral Fellow
Department of Clinical Neurosciences and the Hotchkiss Brain Institute
University of Calgary
Basic Research Fellowship
$100,000 over two years

Therapeutic mechanisms of deep brain stimulation for Parkinson’s disease
Deep brain stimulation (DBS) can significantly improve Parkinson’s motor symptoms and may also reduce dyskinesias, the uncontrolled movements that are a side-effect of Parkinson’s medications. But DBS can also increase impulsivity, resulting in side-effects like problem gambling. At the University of Calgary, Dr. Clinton McCracken, a post-doctoral fellow, is investigating the brain circuitry affected by DBS to discover why some people become so impulsive. To avoid this side-effect, Dr. McCracken wants to help surgeons refine the positioning of the electrodes and the targets of the frequencies at which electrical stimulation is delivered to the brain. “Figuring out ways that we can better tune these circuits so we get better outcomes and better quality of life is something that is really compelling for me,” says McCracken.

Vincent Martel Sauvageau
PhD Candidate
Centre de Recherche Université Laval
Graduate Student Award
$30,000 over two years

Effectiveness of magnetic stimulation of the brain on disorders of speech and language in Parkinson’s disease
Communications problems negatively affect the daily lives of many people with Parkinson’s. But standard treatments that improve motor function may not improve speech. At Laval University, doctoral candidate Vincent Martel Sauvageau is studying the effects of deep brain stimulation (DBS), a surgical intervention to treat Parkinson’s, on speech. He wants to know why implanting electrodes and stimulating areas of the brain with electrical impulses improves speech in some people but not others. The information could help neurologists determine the best candidates for DBS surgery. Sauvageau is also studying the Lee Silverman Voice Treatment to see why it helps some people with Parkinson’s speak louder and more clearly. “We’d like to know, in the future, who would benefit more from this type of speech therapy,” says Sauvageau. He hopes his findings will help people with Parkinson’s communicate better and live as independently as possible.

Dr. Barbara Connolly
Movement Disorders Centre, Toronto Western Hospital
The Nora Fischer Clinical Movement Disorder Fellowship
$50,000

A Clinical Fellowship in the diagnosis, management and treatment of Parkinson’s disease
When people with Parkinson’s disease have been living with their illness for years, the disease can become more difficult to manage – sometimes beyond the expertise even of neurologists. Dr. Barbara Connolly, a neurologist, is spending the year at Toronto Western Hospital’s Movement Disorders Clinic, to become an expert in not just the motor symptoms but the cognitive problems, pain and other issues that people with complex forms of Parkinson’s disease experience. “Other neurologists can refer to me if they need help treating their own patients, so I’ll be a resource in my community,” says Connolly. Dr. Connolly is also participating in two clinical trials of medications: an international study of Cogane, assessing it as a neuroprotective agent to slow or stop the progression of Parkinson’s disease; and a trial for famotidine. Currently approved to treat heartburn, famotidine is being studied to see if it can reduce dyskinesias, the uncontrollable movements that many people experience as a side-effect of levodopa. “My hope is that I can help as many people as I can and make their lives better,” says Dr. Connolly.

For more information about Parkinson Society Canada’s National Research Program and currently-funded research, visit Research on Parkinson Society Canada’s web site.

Congratulations to Yvon Trepanier, Bev Lavender and Beth Holloway for recently being awarded Parkinson Society Canada’s highest honours.

The Dr. Morton Shulman Award was presented earlier this year to Parkinson Alberta Society.

David Simmonds Parkinson’s Leadership Award

• Yvon Trepanier

Yvon Trepanier, Chair, National Advocacy Committee

Yvon Trepanier of Appin, Ontario has been awarded the David Simmonds Parkinson Leadership Award for his outstanding commitment to Canadians with Parkinson’s.

Yvon, who was diagnosed with Parkinson’s nine years ago, is well known for his work as Chair of Parkinson Society Canada’s National Advocacy Committee, where his vision and tenacity helped leverage a $20,000 Parkinson’s research project into a $15 million neurological national population health study that will benefit many neurological conditions.

“We are delighted that Yvon receives this recognition as he has truly made a major contribution to the Canadian Parkinson’s community,” said Joyce Gordon, President & CEO, Parkinson Society Canada. “When Yvon speaks, people listen; his messages always have an impact. We honour him not only for his vision and leadership but also for his unfailing sense of hope for people with Parkinson’s.”

Yvon is currently a member of the board of Parkinson Society Southwestern Ontario, where he also serves as a support group facilitator. He is an immediate past board member of Parkinson Society Canada and past Chair of the Victoria Epilepsy and Parkinson Centre in British Columbia.

The David Simmonds Parkinson’s Leadership Award honours the unique contributions and charisma of David Simmonds, the past Chair of Parkinson Society Canada (1999 – 2001), who through his exceptional vision, leadership, perseverance and commitment, redefined and strengthened the voice of those living with Parkinson’s in Canada.

Mimi Feutl Award

• Bev Lavender
  

  Bev Lavender

Bev Lavender of Toronto, Ontario receives the 2011 Mimi Feutl Award for her passion and enthusiasm for making life better for people with Parkinson’s.

Bev is the leader and facilitator of “Moving Ahead Together,” a support group for people newly diagnosed with Parkinson’s, now in its seventh year. She founded the group with colleagues she met at a Parkinson’s information session shortly after her diagnosis with Young-Onset Parkinson’s in 2004, at the age of 44. In six years she has only missed one meeting!

An annual participant and volunteer with the Parkinson SuperWalk, Bev is actively involved in the Parkinson Society Central & Northern Ontario Advocacy Committee and has contributed to the Neurological Health Charities Canada round table discussion concerning future public policy directions for neurological health issues.

Bev maintains a demanding full-time job as Senior Merchandise Manager for a large clothing company. She is also a talented artist, with paintings exhibited at the 2010 Parkinson’s Conference in Toronto and quilt panels selected for the Parkinson Quilt Project presented at the World Parkinson’s Congress 2010 in Glasgow.

Bev’s life exemplifies her motto: “You have to manage your Parkinson’s – don’t let it manage you.”

• Beth Holloway
  

  Beth Holloway

Beth Holloway of St. John’s, Newfoundland receives the 2011 Mimi Feutl Award for her unwavering commitment to helping people with Parkinson’s.

At 33, Beth was diagnosed with Young-Onset Parkinson’s. Just 10 years into her beloved career as a high school teacher, she accepted a forced early retirement, but never a defeat to Parkinson’s itself. For the past decade, Beth has been reaching out to people in her Maritime community through a regional newsletter, The Prattle, where she acts as editor. In her column, Beth’s Few Cents, she urges readers not to surrender to the cruel changes Parkinson’s may bring.

Beth’s dedication to helping others with Parkinson’s has found her enthusiastically serving on the boards and several committees of Parkinson Society Canada and Parkinson Society Newfoundland & Labrador. She is involved in organizing the Parkinson Community Education Program and travels throughout Newfoundland facilitating sessions and overseeing conferences for people with Parkinson’s.

Beth’s compassion and understanding for people with Parkinson’s is seen in her natural ability to make people laugh and her creation of an open and honest atmosphere where people feel comfortable revealing their fears. Beth’s empathy ensures that no one attending her sessions feels excluded.

The annual Mimi Feutl Award recognizes the efforts of community builders whose responsive care and provision of information and support, has made life better for people living with Parkinson’s and their families. The recipient of the award exemplifies the compassion, energy and unwavering commitment of Mimi Feutl, former Director of Patient Services with the Parkinson Foundation of Canada (now Parkinson Society Canada) for over 22 years.