Newsletter Dec 2004
In this Issue
Its Christmas again where has the year gone and what a busy year it has been for the Association, the staff and our volunteers.
We have enjoyed a good year and I am taking this opportunity to sincerely thank everyone who has contributed to our success, especially our dedicated staff who give their time and effort far in excess of the hours expected. Thank you to Gwen and Jeff (Welfare) Iris and Theressa (Day Respite) and also Barb and Helen (Administration).
The staff is backed up by a wonderful team of volunteers and I extend to them a special thank you for their unselfish efforts in supporting the Family Support Groups throughout the State; the Day Respite Program in Annerley; fundraising activities and administration duties. We cannot maintain the services we offer without your valuable contribution. There is always room for extra volunteers and we welcome more assistance if anyone is able to spare their time.
The Family Support Groups throughout the State are doing a wonderful job for which we are very grateful. Thank you sincerely.
It is also timely to sincerely thank those generous financial supporters whose contributions make such a difference to our members.
Our Committee members have given freely of their time during the year and their individual contributions and support keep the wheels turning. I thank them for their support.
I would like to wish you all a very joyous festive season and Happy Christmas and I look forward to a wonderful New Year in 2005.
Ray Bellert, President
Jeff and I have been travelling extensively both in regional Queensland and Interstate since our last Newsletter. Jeff has visited Bundaberg via Kilcoy, Goomeri, Gin Gin and returned via Maryborough and Hervey Bay and I have worked in Cairns and surrounding district, Townsville and Charters Towers and earlier in Rockhampton and Mackay. We view these visits as an essential part of the Queensland Welfare Service and I would like to thank those of you who extend such a warm welcome to us when we are in your area.
Recently I have attended the Annual National HD Meeting in Melbourne. Delegates from all Australian States attended and we addressed issues such as:
I also attended an HD Research Symposium in Melbourne which was held the day before the National Meeting. Topics arising included:
There are a number of people researching HD across Australia and Victoria can feel justifiably proud of the contribution they are making.
I would like to thank the Victorian HD Association for hosting both the National Meeting and the Research Symposium and the Queensland Association for making it possible for me to attend.
On behalf of Jeff and myself, I would like to wish you all the compliments of the season. Kindest regards,
Gwen Pratten, Welfare Coordinator
The decision to hold the 2004 National Annual General Meeting in Melbourne
It is impossible to put into a few words the optimism and appreciation I felt at the Symposium, while listening to the many researchers and professionals who are so committed to making the lives of HD families more manageable on a day to day basis while we live in the hope of a cure.
The opportunity for the National Body to meet on an annual basis allows a face to face exchange of the years events in each State and I have the greatest admiration for their dedication to Huntingtons families throughout Australia. My role as National Chair in 2003 was the first time this position had been held by a community person, not involved with an Association on a day to day basis. I would therefore like to thank Robyn Kapp (NSW), Anne Middleton (SA & NT), Gwen Pratten (Qld), Joyce Abblitt (Tas), Jill Hitchcock (Vic) and Del Weston (WA) for their ongoing support and friendship throughout the year, which has given me a greater insight into the roles of each Association. Special thanks to Jill in Victoria for all her hard work and hospitality in making our stay in Melbourne so special. Del (WA) has recently resigned from her role as Executive Officer to take up another position, but we thank her for her commitment to the Association and Huntington Community over the past 6 years and wish her well for the future.
As a carer and the mother of two gene positive daughters I know all too well the enormous struggles faced by Huntingtons families, but I have met so many people both in the HD and wider community whose courage, strength and sense of humour, all help to make our days brighter. I have also learnt not to be afraid to ask for help and can only say sooner is better than later.
My role as National Chair will continue for a further year and my hope is that we can all share in our Huntingtons experiences and remember that we are not alone. My warmest wishes -
Ann Jones December 2004
In response to a segment on Channel 7 news on Friday 5th of November, 2004, AHDA (Vic.) Inc. have been in contact with the company involved in the research project discussed, and have compiled some information regarding the research and its implications for people affected by Huntington Disease.
What are the details of the research that was discussed in the news story?
What did the trial involve?
The trial was conducted using a fairly standard rat model of Huntington's (The rats have quinolinic acid injected into the striatum (a part of the brain), which results in the rats displaying pathology and clinical presentation that mimics HD).
What were the results?
A remarkable prevention of the behavioural, pathological and clinical changes around 80%. The animals recovered extremely well.
Where to from here?
The trials are being repeated in non-human primates first, using piglet choroid plexus - these should be completed by mid February 2005.
If the human trials are approved, what will they involve?
At present the trial would involve the injection of a small volume of encapsulated pig choroid plexus cells into the brain striatum of patients who are already experiencing severe symptoms of the disease. A small 'burr hole' would be made in the skull and a needle positioned by stereotactic means. An alternative might be to inject into the ventricles of the brain - this is yet to be determined.
What sort of time-frame are we looking at?
There are two stages. The company will know whether the treatment works or not in the larger (primate) animal model, hopefully by February 2005.
Who is conducting the research?
The research is being conducted by a company called Living Cell Technologies.
Just type in Entrez PubMed and then search for articles using the authors surname.
C.V. Borlongan; S.J.M. Skinner, M. Geaney; R. Elliott; A.V. Vasconcellos; D.F. Emerich. Neuroprotective effects of encapsulated choroid plexus in a rodent model of Huntingtons disease. 34th Annual Meeting, Society for Neuroscience. San Diego, CA, USA Oct 23-7, 2004
Dwaine F. Emerich; Stephen J.M. Skinner; Cesario V. Borlongan; Alfred Vasconcellos The Choroid Plexus in the rise, fall and repair of the brain. In Press (Nov 2004) BioEssays
Borlongan CV, Skinner SJM, Geaney M, Vasconcellos AV, Elliott RB, Emerich DF. CNS grafts of rat choroids plexus protect against cerebral ischemia in adult rats. Neuroreport Vol 15 No19 19 July 2004.
Borlongan CV, Skinner SJM, Geaney M, Elliott R, Vasconcellos AV and Emerich DF. Intracerebral transplants of choroids plexus provide structural and functional neuroprotection in a rodent model of stroke.
Borlongan CV, Skinner SJ, Geaney M, Vasconcellos AV, Elliott RB, Emerich DF. Intracerebral Transplantation of Porcine Choroid Plexus Provides Structural and Functional Neuroprotection in a Rodent Model of Stroke. 2004, International Society for transplantation, Vienna, Austria.
* Abstract attached
The choroid plexus: function, pathology and therapeutic potential of its transplantation.
The choroid plexus (CP) produces cerebrospinal fluid (CSF) and forms the blood-CSF barrier. However, the CP may have additional functions in the CNS beyond these traditional roles. Preclinical and clinical studies in ageing and neurodegeneration demonstrate anatomical and physiological changes in CP, suggesting roles in normal and pathological conditions and potentially endogenous repair processes following trauma. One of the broadest functions of the CP is establishing and maintaining the extracellular milieu throughout the brain and spinal cord, in part by secreting numerous growth factors into the CSF. The endogenous secretion of growth factors raises the possibility that transplantable CP might enable delivery of these molecules to the brain, while avoiding the conventional molecular and genetic alterations associated with modifying cells to secrete selected products. This review describes some of the anatomical and functional changes of CP in ageing and neurodegeneration, and recent demonstrations of the therapeutic potential of transplanted CP for neural trauma.
PMID: 15268655 [PubMed - in process]
US scientist Nancy Wexler helped identify the gene that causes Huntington's, an achievement that led to the genetic test. Earlier this year, she spoke to National Public Radio in New York about her decision not to be tested for HD; despite her mother's contracting the illness.
Huntington's Disease has always hung over Nancy Wexler. Her mother's father had it; her mother's three brothers had it. For a time, Nancy Wexler believed the disease only affected men, but in the late 1960s, she learned that was wrong.
My mother was on jury duty when I was 21, and she was walking across - there's a big diagonal in downtown LA, and so a policeman was watching her, walk across at 8 AM. And he pulled her over and accosted her and said, `Aren't you ashamed of yourself to be drunk so early in the morning?' And my mother was just horrified, because first of all, she wasn't drinking; she doesn't drink. Her world just fell apart because she knew that that's one of the first signs of Huntington's.
The diagnosis of her mothers illness eventually set Nancy Wexler on a career path to study HD. Wexlers office is now piled with papers, folders, research journals and dozens of pictures documenting her field research in Venezuela. She began working in Venezuela because Huntington's Disease is unusually common in the villages along Lake Maracaibo.
All of my life since the age of 21 was completely pushing aside every single barrier I could find in order to develop the test... The research in Venezuela was all about finding the test. It was finding a marker so you could take the test, finding a gene so you could take it. So, it was test, test, test. I want to know. I want to find out. I want to be tested.
Among Wexlers Venezuelan research papers is a photograph showing a clean, freshly painted room. In the room, a nurse is feeding a woman in a wheelchair. The room, once part of a local bar; is now a clinic for Huntington's patients.
Everybody that works there comes from a Huntington's family... The people who clean, the people who are the cooks, everybody has Huntington's in their family. So they all have the first priority. Since the staff are all expecting to get Huntington's and they're caring for their parents in that same place, they say it's very hard to walk in because every time I walk in, I think, `One of these days, it's going to be me.' And so they handle that by saying, `I want that bed. I want that room,'.
This picture - this family really helped us find the gene because there were nine children - seven out of the nine children all got Huntington's disease. So really, this family found the Huntington's disease gene for us. And, bingo, it was like one day you don't have a gene and the next half an hour, you've got the gene. So I love them.
We discussed how we would send the blood, who we would give the results to. And as we started to talk about it, my father said, `I don't know how I feel about this test. I'm really having a lot of misgivings.' He said, `It's up to you; it's your life, it's your DNA. But for me, it would be tragic if either one or both of you was diagnosed with Huntington's disease, and we need to really think very carefully about what we're doing here.
And I started to think to myself: `How would I go to Venezuela? How would I see all those people? How would I write? How would I be cheerful?' And it's a very hard place to both put yourself in and keep yourself. And so then we said, `Well, why do we want this, you know? What's on the plus side? Of course, you're very curious. You want to know that you don't have it.
Because my sister and I had both decided - the first thing, in fact, we said when we learned that we were at risk is we weren't going to have children unless we could guarantee that they wouldn't get sick. And both of us... wanted to have children. We had said no to children because of the Huntington's, but suddenly, this other door was opening. And that seemed really the only driving force behind saying yes to being tested.
Neither Wexler nor her sister had children so they never had the predictive test. Until now, Wexler has been reluctant to discuss what she sees as her very private decision not to be tested. She says the increasing push for people to take the predictive test has changed her mind about sharing her story.
I think that there's an increasing push for people to be tested, and people are going to get pushed to get tested for all kinds of reasons. I guess part of what I would like to say is that people should not feel pressured to be tested. You can't take back the information - that is, it can be massively damaging information. It can be illuminating and it can be productive. People use it that way; I've seen people use it that way. I'm saying try to know your own inner self as much as you possibly can, because that should be the guiding force and not some outside job or outside boyfriend or father or Ma or doctor, who really push a lot, or public, impinging on because you're the one that has to live with that information and nobody else does.
Acknowledgement: This article was adapted from an interview originally broadcast on the USA National Public Radios Weekend All Things Considered program on May 16, 2004.
Reprinted: Gateway AHDA (NSW) Inc. September/October, 2004.
As a health professional I shared the fact that I was having predictive testing with my colleagues. I experienced a good level of support while going through the process and waiting for the results. Not to have my colleagues know why I was so fragile would have been very difficult since the process took some time, which added to the overall stress. I did not keep the gene positive results from my colleagues. Although I would have preferred to have only told less people, it is hard to keep secrets in a small working environment.
For a while nothing changed. I had a gene, not a disease and I thought my professional colleagues respected that. However after a while I had a few personal health issues not related to HD and was not myself. My trusted colleagues decided I now had HD. I saw a neurologist and had some psychology tests done. All proved to be OK. Us gene positive mob have the same risk as the rest of the world in having health problems!! It seems since then that any problem I have, someone relates it to my HD. I wonder how any of them with a gene positive test for heart disease would appreciate me treating them as a cardiac cripple, while they were asymptomatic?
What I am saying is if I could do it all over I would not have told anyone in my workplace that I was having testing done. It was a good support initially but the long-term results have been very traumatic for me. I feel I have to be covering my back all the time, being very sensible and never getting upset, in order to prevent being judged as an HD patient.
Francis Crick, who with James D Watson discovered the double helix structure of the DNA molecule in 1953 - one of the 20th century's most celebrated scientific breakthroughs - died on 28th July 2004 in a San Diego hospital. He was 88 and had colon cancer.
The importance of their discovery can hardly be overstated. It all but created the field now known as molecular biology, and led to an understanding of the genetic basis of diseases, which has revolutionized the search for drugs and other treatments. It also was the making of Dr Crick, who at the time was still pursuing his doctorate at Cambridge University. He acknowledged that personal importance by later naming his house in England The Golden Helix.
"I will always remember Francis for his extraordinarily focused intelligence and for the many ways he showed me kindness and developed my self-confidence," Watson said yesterday in a statement from his office in Cold Spring Harbor Laboratory in New York. "For two years I was almost a family member, the much-younger brother prone to intellectually stray... I always looked forward to being with him and speaking to him, up until the moment of his death."
Watson and Dr Crick received the 1962 Nobel Prize in Physiology or Medicine for discovering that the structure of DNA was a double helix. In making their discovery, Dr Crick and Watson drew upon the research of Maurice Wilkins, who shared the Nobel, and his colleague, Rosalind Franklin, who died in 1958.
Dr Crick always downplayed the significance of his achievement, saying in his 1988 memoir that "it is the molecule that has the glamour, not the scientists."
But the scientists who followed him never believed that.
"Francis Crick was a connection to that founding generation of molecular biologists who changed the world, and in terms of pure intellect he was the most extraordinary of them," said Eric S Lander, director of the Cambridge-based Broad Institute, who was instrumental in mapping the human genome.
When at Cambridge, he and his wife, Odile (Speed) Crick, were famous for the liveliness of their parties. He was also renowned in scientific circles for his blunt honesty, puckish wit, and considerable self-assurance. As Watson wrote in the famous first sentence of his memoir, "The Double Helix" (1968): I have never seen Francis Crick in a modest mood."
Watson's greater fame was even more attributable to "The Double Helix," which was an immediate best seller and soon attained classic status. Dr Crick liked to joke how often he was complimented on his authorship of the book. Indeed, his and Watson's names were joined in the public mind. Even some colleagues lumped them together. In 1955, Watson was visiting his old haunts at Cambridge. Dr Crick introduced him to the new head of the university's Cavendish Laboratory. "Watson?" he said to Dr Crick. "I thought your name was Watson-Crick."
Francis Harry Compton Crick was born on June 8, 1916, in Northampton, England, the son of Harry Crick, a footwear manufacturer, and Anne Elizabeth (Wilkins) Crick. The family moved to London when Dr Crick was a boy.
Having demonstrated an early interest in science, Dr Crick studied physics at University College London. He earned his bachelor's degree in 1937 and began doing graduate work on the viscosity of water. He later described this as "the dullest problem imaginable," but it led to his working for the British Admiralty during World War II, developing naval mines.
With the war over, Dr Crick found himself at a crossroads, bored with physics and intrigued by what he called "the chemical physics of biology." Pondering the advisability of switching to biological research, he consulted various friends. "I've known a lot of people more stupid than you who've made a success of it," one told him.
Thus encouraged, Dr Crick went to Cambridge to work on his doctorate. He met Watson there in 1951. A certain youthful arrogance, a ruthlessness, and an impatience with sloppy thinking came naturally to both of us," Dr Crick later wrote. They almost immediately began their pursuit of what Watson once called "the most golden of molecules. Drawing on X-ray diffraction studies by Wilkins and Franklin, as well as work by the US chemist Linus Pauling, Dr Crick and Watson spent the better part of two years working on models of the DNA molecule. At one point, Dr Crick was forbidden to continue work on DNA (he was supposed to be researching proteins). When they finally hit upon the double helix as DNA's structure, Odile Crick was initially unimpressed.
"You were always coming home and saying things like that," she later explained, "so naturally I thought nothing of it. Dr Crick, who received his doctorate in 1954, later became a central figure in the study of
This itself was a profound insight, but he also showed the essence of how these instructions work: DNA can be thought of as a long string of letters, and every three letters is like a word that specifies a particular amino acid, he and Brenner showed. Dr Crick also theorized that molecules called "transfer" RNA play a crucial role in this process - a theory that was later proven correct.
"Not only did he discover with Jim Watson the double-helical structure of DNA, but Francis Crick intuited the mechanism by which the genetic code is written and read out," Lander said. "Those three things - the double helix, [RNA] molecules, and the triplet nature of the genetic code - I think of as the greatest intellectual hat trick in the history of biology, and they emerged from pure insight with very little data for guidance."
Dr Crick held several visiting professorships at universities in the United States, including Harvard and the Rockefeller Institute, while maintaining his affiliation with Cambridge. In 1976, he moved to the Salk Institute for Biological Studies in La Jolla, California where the focus of his work became brain research. He continued doing theoretical work until shortly before his death.
Dr Crick also made headlines in 1981 with his "panspermia" hypothesis, which he propounded in his book (with Leslie Orgel) "Life Itself: Its Origin and Nature." Dr Crick suggested that life on Earth began when an unmanned spacecraft from another world crashed here billions of years ago, depositing microorganisms.
Dr Crick was also author of "Of Molecules and Men" (1966) and "The Astonishing Hypothesis: Scientific Search for the Soul" (1994). The latter book offers Dr Crick's thoughts on the brain and the nature of consciousness.
In it, he announces, "You, your joys and your sorrows, your memories and your ambitions, your sense of personal identity and free will, are in fact no more than the behavior of a vast assembly of nerve cells and their associated molecules."
By Isla Horvath, Executive Director and CEO, Huntington Society of Canada and Dr Lynn Raymond, HSC Research Council Member, Department of Psychiatry, Division of Neuroscience and Brain Research Centre, University of British Columbia, Canada
Now is an extremely exciting time in the Huntington's research world - new discoveries are made on a weekly basis from all corners of the world, each one providing a better understanding of HD and bringing us a bit closer to a treatment that will have an impact on Huntington disease.
Nowhere is this excitement more visible than in the area of clinical research. We continually hear about prospective compounds that may be used eventually for the treatment of HD. It's extremely encouraging for those in the Huntington's community.
But what exactly is involved in clinical research? How long after a drug is identified as a potential therapeutic compound can we actually expect an announcement that a treatment has been developed? Dr. Lynn Raymond, a neurologist at the University of British Columbia, is frequently asked this question by her patients who participate in an HD clinic. Here's the information she provides on bringing a drug to market in Huntington Disease:
There are basically six steps involved in the clinical trial process:
There are other key points to understand regarding the search for a treatment for HD:
Drug testing is in symptomatic individuals in the early stages of HD because in later stages, progression is no longer linear with time.
Randomized, placebo vs. drug trial is the only way to be sure a drug is actually effective, because taking a "sugar pill" and being closely monitored by HD experts can produce physiological effects that result in improved clinical status.
Steps 4 - 6 require large amounts of money, and raising funds for these trials ( e.g., preparing a proposal to submit to a funding agency, undergoing the review process, making revisions to the protocol, etc. ) can take a year or two.
Researchers around the world have expressed their sincere appreciation for the willingness of the HD community to provide support, both through financial contributions to enable trials to occur, and through participation in clinical trials. By working together, we WILL find a treatment that has an impact on Huntington disease.
Most people have difficulty getting a good nights sleep at some stage in their lives. People often look to sleeping tablets to help them sleep. However, it is now realised that using these medicines for more than a few days at a time can cause major problems. It is usually better to deal with sleep difficulties using non-drug methods.
Sleeping tablets can be addictive, and coming off them becomes harder the longer you take them. In addition, most people develop a tolerance to them after a few days, so they need increasingly larger doses to make them sleep.
Talk to your GP if you have been taking sleeping tablets for a while and want to come off them.
During the day
In the evening
Acknowledgement: Medicines Talk, No.. 11 Information for Consumers and Consumer Groups
The QUT Staff Community Welfare Fund recently donated $500.00 to the Association for the purchase of white boards for use at the HD Centre. This Group raises funds from staff by way of voluntary contributions or other fundraising activities, and disperses these to appropriate charitable organisations.
We appreciate their generosity and thank the staff for their ongoing support of the Association.
Community Assistance We have received, and gratefully acknowledge major financial assistance from the following donors:
NA & P Barnes
The following fundraising activities held in recent months were well supported and raised much needed funds for the Association. Our thanks to everyone involved.
The Sausage Sizzle at Browns Plains raised $775.00.
The Melbourne Cup Calcutta Another entertaining evening raising approx. $800.00.
Cookie Drive Our most successful yet - $810.00. Thanks to everyone for supporting this fundraiser and especially our friends from the North Coast region.
Rotary Club of Acacia Ridge Art Union As the Newsletter goes to print this Art Union is closing. If all tickets distributed are sold, the Association will receive $400.00 from ticket sales.
Please check the Febuary edition of the Newsletter for upcoming fundraising events.
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