Research News
Over recent months, reporting by the media of genetic disorders has increased significantly, with news of many breakthroughs and developments. The Information Point asked Elizabeth Taylor, Research Genetic Counsellor at the Beggs Laboratory, about PTC124, one of the latest developments and what its development could mean to those with CNM / MTM..
PTC124: A Potential Treatment for Patients with Hereditary Neuromuscular Disease
PTC124 is a new drug developed by PTC Therapeutics to treat patients with inherited (genetic) disorders caused by specific types of genetic changes (mutations). Studies of PTC124 in some mice and human cells affected with certain genetic conditions, including Duchenne Muscular Dystrophy, have been promising. Current trials are testing whether PTC124 will work in patients with these same conditions.
To understand how PTC124 works, we first must understand how our genes work. We all have genes in our bodies that tell our bodies how to grow and develop, like an instruction manual. We inherit our genes from our parents and pass them on to our children. Each gene produces a specific product, known as a protein. Each protein performs a specific job in the body. We have proteins that determine our hair color, our eye color, and how our muscles work.
Sometimes a 'change' or 'typo' (scientifically known as a mutation) occurs in a gene, causing that gene to make a protein that does not work correctly. This changed protein can cause a person to develop health problems or disease. For example, X-linked Myotubular Myopathy is caused by mutations in the MTM1 gene. We all have the MTM1 gene. It tells our body how to make a protein called Myotubularin that helps our muscles work. Mutations in MTM1 cause a person’s body to make Myotubularin that cannot do its job. Thus, boys with MTM1 mutations have problems with how their muscles work.
There are different kinds of mutations in genes. Some mutations, known as nonsense mutations, cause the gene to produce a smaller incomplete protein. A nonsense mutation tells the body to 'stop' making the protein before the end of the gene’s instructions are read by the body (see diagram below). This smaller version of the protein cannot do the same job as a full-length copy of the protein.
The new drug, PTC124, may help the body to skip over (bypass) this stop signal in people with nonsense mutations. This means that people with nonsense mutations could make some full-length protein that would be able to work properly in the body (see diagram below).
PTC124 will not completely fix a person’s nonsense mutation, but maybe by providing even a small amount of the full-length, working protein, people may have fewer symptoms of their disease. For example, in the case of X-Linked Myotubular Myopathy, maybe boys with nonsense mutations who are treated with PTC124 will have stronger muscles if some of the Myotubularin is full-length.
PTC124 has been tested in some cell and animal models. Human cells with nonsense mutations that are treated with PTC124 are able to produce some full-length protein. In addition, mice with nonsense mutations that cause Duchenne Muscular Dystrophy (a common inherited form of Muscular Dystrophy that affects mostly boys) or Cystic Fibrosis (an inherited respiratory disease) have also been treated with PTC124. In both diseases, mice treated with PTC124 made more of the full-length working protein than mice not treated with the drug. PTC124 is currently being tested on some patients with DMD and CF who have nonsense mutations.
Not all inherited conditions are caused by nonsense mutations. Nonsense mutations are thought to account for up to 15% of patients with many inherited conditions. If PTC124 therapy works, it could help patients with nonsense mutations that cause many different inherited conditions, including patients with Centronuclear and Myotubular Myopathy. This therapy will not be effective for patients with other types of mutations, but there are different treatments being developed to target these other types of mutations.
11th International Congress on Neuromuscular Diseases
In July almost 1,000 world leading researchers attended the 11th International Congress on Neuromuscular Diseases, an event that is held every four years, to present and discuss the newest developments in the field of muscle disease and to reflect upon the accomplishments achieved since the last congress in 2002 in Vancouver.
Read more about the conference.
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Human Variome Project
In June 2006, the NewScientist.com News Service reported that a plan for a global database of all human gene mutations has been announced in Australia. The Human Variome Project could allow doctors to rapidly diagnose patients with rare genetic conditions and could lead to new treatments for diseases.
Read more about the Human Variome Project. |
Stem Cells 'Treat Muscle Disease'
Stem Cell research by an Italian-French team has found transplanting stem cells into dogs with a version of Muscular Dystrophy markedly improved their symptoms. Read the full story.
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Gene Genius
Read more about research developments in Target MD. |
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The information webshop has now raised £302.06, all of which has been split between the Myotubular Trust and the Beggs Laboratory for essential research and this Christmas we have the opportunity to raise even more, with the Every Purchase Counts initiative. All transactions made through the webshop between the 1st November 2006 and 31st January 2007 will earn an additional 25p extra commission on each transaction made and all transactions will also be eligible to be entered in to a free prize draw to win an additional £500 commission.
There are over 1 million products available in our webshop, so you should have no trouble finding exactly what you are looking for and all from the comfort of your own home - use the search facility above to find products and compare prices.
Finally, to get you in the festive mood, new provider Waterstone’s are offering £5 off your order if you spend over £25. To take advantage of this great offer, simply enter the code WH9827 at the checkout.
Merry Christmas everyone.
Thank you for your support and enjoy your shop!
Wendy Hughes and Anne McAuliffe set up the Myotubular Trust in February 2006 when it became clear that as a rare disease, research into Myotubular Myopathy would never get enough funding to keep pace with the scientific possibilities. There are amazing breakthroughs in the field of muscle disease currently, and some incredible research being done, but rarer diseases like Myotubular Myopathy could lag substantially behind the science as they struggle for funds from mainstream sources. Below Wendy Hughes reflects on the achievements of the Trust so far and what its success will mean to those with Centronuclear and Myotubular Myopathy.
An Overview of the First 10 Months
We received European charitable status in March this year and our formal charitable aims are the relief of disability and the extension of life for those suffering from Myotubular Myopathy, by promoting the study of, and research into, the treatment and cure of the muscle weakness caused by Myotubular Myopathy.
Since then we have raised over £75,000 through some very simple fundraising, and some fantastic support. We have set ourselves an initial target to raise £200,000 which will allow us to begin to become a serious source of funds for neuromuscular researchers. In a recent interview Professor Muntoni said 'There is a lot of excitement regarding the role that muscle stem cell could play in the future in a number of neuromuscular disorders. In Myotubular Myopathy it is also likely that drug therapies could play a role in the not too distant future. But money is absolutely required to fund research. This is where charities like the Myotubular Trust have great value….. The money makes a huge difference.'
While our fundraising continues and the number of families raising funds for the Myotubular Trust expands, we are beginning to set up the medical peer review process that will soon allow us to invite applications for research grants. We are determined to set up a world class medical peer review process so that the money we are entrusted with is spent on nothing short of world class research. To that end, we are being assisted on a pro bono basis in the design of that process by a team of relevant experts. Myotubular Trust is run on an entirely voluntary basis, with administration costs kept to an absolute minimum.
Christmas Cards
This year Christmas cards are available from the Myotubular Trust and unlike shop bought charity Christmas cards, every single penny (above discounted printing costs) will go directly to the Myotubular Trust. The A5 cards are good for corporate or personal use and can be bought in multiples of 20s (in mixed packs of 4 unique designs). Each card has been carefully designed by a parent, sibling or person with Myotubular Myopathy .
For more information and a Christmas Card Order Form, please visit the
Myotubular Trust website.
Christmas e-cards are now available from the Myotubular Trust website too, so why not save on postage and make a donation to the Myotubular Trust instead?
Worlds Longest Bunting Line
The Myotubular Trust bunting line officially measured 1,504.72 metres and has now been submitted to Guinness World Records for verification, having been judged by Cheryl Gillan MP. The Trust are confident that it is a new World Record and Cheryl Gillan was so impressed by its beauty that she declared an
early day motion in the House of Commons, which has already collected 27 signatures from other members of parliament, recognising the charity and its work to raise funds for essential research into Myotubular Myopathy.
London 10K
As reported in our last newsletter, participation in the 2006 British London 10K was extremely successful this year with over 100 runners doing it for Myotubular Trust, raising an enormous amount of profile and funding. The atmosphere was fantastic that day and if you haven't already seen, you can see some of the pictures captured from the day on the Myotubular Trust website.
Now is the time to sign up for the 2007 which you can do on line at a cost of £30 but if you are quick, the Trust have 30 FREE London 10K 'platinum debenture' places to give away on a first-come-first-served basis.
All entrants running on behalf of the Trust will receive a free Myotubular Trust race pack which includes sponsorship form, Myotubular Trust t-shirt and tips on how to raise sponsorship money. You may run as a team or as an individual but you will certainly feel part of something special and your name will appear on the Myotubular Trust website.
Find out more about the 2007 London 10k.
Alternatively, there may be another event that you may wish to join and
run on behalf of Myotubular Trust.
Email Wendy at the Myotubular Trust for more information.
London to Windsor Bike Ride
On a Sunday in early September this year, a grey and drizzling day, Donna Goodridge and John Hashka braved the weather to cycle in the London to Windsor Bike Ride, raising funds for Myotubular Trust.
More used to Track Racing events, John was one of the first to finish the bike ride that day, despite taking the longer route of 39 miles. What’s more this was just a warm-up, he is planning to cycle from Lands End (the very southern tip of UK) to John O’Groats (the very northern tip of UK) to raise money and awareness for the Myotubular Trust next year.
If you would like to join in any bike event and help to raise money for Myotubular Trust, please register with Bike Events. Providing 5% of the monies raised is donated to the organising charity, you are welcome to join any of the events listed to help raise money for Myotubular Trust.
The X Boys
The X Boys are five incredible boys, who are helping to raise money for the Myotubular Trust. Recently they helped customers in their local supermarket to pack bags, in return for a donation to Myotubular Trust and raised £755.00, then Joseph had his head shaved, helping to raise even more.
What makes this story so special is that the X Boys do not know anyone with Centronuclear or Myotubular Myopathy. They heard about the Myotubular Trust when they become involved in the recent Guinness World Record and now plan to continue raising funds in the future.
Ian, Alex, Joseph, Thomas and Dan - you are our heroes.
Staples to Naples Rally
In September the Gorgonzola Go-Go Guys also known as Rob Green, Jon Taylor, Tom Phillips and Tony Phillips (and a rubber chicken called Colin) took part in the Staples to Naples Banger Rally.
Below are some photos taken from the rally.
In total £933 was raised from the event, which was split three ways, between Cancer Research, Ian Rennie Hospice and Myotubular Trust.
Well done boys and thank you for your support.
Forthcoming News
To celebrate the first birthday and success of the Myotubular Trust, a Charity Auction is planned for Spring 2007 in London - we will bring you more details on this event early next year.
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Congenital Myopathy Day
The Congenital Myopathy Information Day took place on 4th November 2006 at the Hammersmith Hospital, London. Wendy Hughes of the Myotubular Trust who has a 10 year old son with X-Linked Myotubular Myopathy attended the event, her summary can be read below.
Dr Anita Simonds, Royal Brompton Hospital , London
At the meeting, Dr Anita Simonds of Royal Brompton Hospital, London talked about respiratory preventative therapies and intervention for children with Myopathies.
Dr Simonds said that all children with Congenital Myopathy should be assessed on an individual basis and that breathing problems are very treatable. Breathing problems should be anticipated rather than waiting until they occur. It is important that children with a Myopathy have all their routine vaccinations, but particularly important are the Pneumovax and the annual Flu vaccinations.
Prophylactic antibiotics and non-invasive ventilation may help prevent repeated chest infections. A cough machine will help if their cough peak flow is reduced or is very effective during chest infections. Swallowing assessments and reflux assessments are necessary to ensure that they are not aspirating. Invasive ventilation may be necessary if there is a profound swallowing dysfunction or if they are unable to manage on non-invasive support.
Current Assessment Guidelines were given as:
1. Ventilatory support in Congenital Neuromuscular Disorders – congenital myopathies, congenital muscular dystrophies and SMAII Neuromusc Disord 2004; 14:56-69.
2. Recommendation for Respiratory care of children with Spinal Muscular Atrophy Type II & III Neurmusc Disord 2003; 13:184-89.
3. MDC Recommendations for the Respiratory care of adults with muscle disorders (Neuromusc Disord 2006 in Press).
4. ATS Consensus Statement: Respiratory Care of the patient with Duchenne Muscular Dystrophy AJRCCM; 2004:456-65.
5. Consensus Conference: Clin indications for NIV in CRF Chest 1999; 116:521-4.
Children should also be checked for respiratory symptoms and signs and an estimate of the probability of respiratory complications should be considered. Regular measurement of Vital Capacity (VC), including supine if practical and Sa02 should be done at least annually - patients with low VC or rapid decline of VC should be tested more frequently. Any scoliosis, nutritional or cardiac problems should be taken into consideration as these will also have an impact on breathing.
Children with myopathies are prone to inspiratory (breathing in), expiratory (breathing out) and bulbar (throat / mouth) muscle weakness and a cough peak flow test may be helpful.
They should also be monitored for Nocturnal (night-time) Hypoventilation, annually if VC <60% or symptoms are apparent. Classic signs and symptoms of nocturnal hypoventilation are:
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poor sleep quality
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poor growth (because growth hormones are secreted during slow-wave sleep
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light sleep
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a panic sensation when waking up out of sleep
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nightmares
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increased chest infections
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headaches
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extreme tiredness during the day
Nocturnal hypoventilation can be easily remedied with C-Pap or B-Pap which will enormously improve sleep quality and the quality of life (proven by a recent study). Arterial blood gases should be measured if Sa02 <93% or if there are symptoms of nocturnal hypoventilation.
Dr Simonds showed some research of typical ages when non invasive ventilation was started and for Myotubular Myopathy the youngest age recorded in her study was around 2.5 years, with the mean being 7.3 years.
Other effective therapies which might be considered for children with a Myopathy are C-Pap to exercise / expand the lungs and improve pulmonary development (the lungs like to be stretched) – and this has been particularly successful in children with flattened chest or concave chest as it will also help to improve the shape of the rib-cage. Note: this was very beneficial for my own son Zak as he was involved in this research. This may also help to prevent respiratory problems in later life.
In severe respiratory distress, and when intubation into the lung is the only option the advice is to try to extubate early and move on to non-invasive ventilation such as B-Pap to help move them off full time ventilation if possible.
For Further Information View the Muscular Dystrophy Campaign Fact Sheet 'Making Breathing Easier'.
Professor Francesco Muntoni, Dubowitz Neuromuscular Centre, Imperial College Faculty of Medicine, Hammersmith Hospital, London UK .
Professor Francesco Muntoni, Professor of Pediatrics at Imperial College, London outlined typical features and characteristics of Myotubular Myopathy. Pictures of stained cells of a typical MTM1 patient showed clearly that the cell nucleus does not move to the outer edge of the cell as in 'normal' cell development but remains in the centre. Professor Muntoni informed us that in children with Myopathy, the muscle doesn't deteriorate (as in a dystrophy which is a disease) but works at the same pace, ie it is typically non-progressive. Professor Muntoni explained this with the analogy of a car i.e. some children are born with lower 'cc' or horsepower – but that 'cc' will remain the same over the years. (Although through normal maturation some muscle cells will degenerate with age, but that happens in people without a muscle condition too - as we all find things more difficult with age).
Professor Muntoni also explained the main clinical features. He explained that patients often achieve the ability to walk independently and typically the serum CK are normal (indicating low muscle damage). Respiratory muscle weakness can be out of proportion compared to limb muscle weakness.
Also, the structure of the muscle in Myotubular Myopathy is normally quite good (ie in contrast to muscular dystrophies, there is preserved integrity of the muscle fibres) but it's the cell to cell signalling (the way cells talk to one another) and energy metabolism that is not working 100% and Professor Muntoni showed some slides supporting this evidence (which were far too complicated for my understanding of genetics!). Professor Muntoni is lead to believe that the signalling can be manipulated with pharmacological intervention which will interfere with the pathways.
(Note: When I tried to explain this to my own son 10 year old son Zak, who has Myotubular Myopathy, he came up with his own analogy which goes like this. If you imagine in a normal person in each muscle cell they have a walkie-talkie - so when they instruct their leg to lift up, for example, all the walkie-talkies are switched on and the cells hear that they have to work hard and lift the leg. In someone with Myotubular Myopathy, only some of the cells have their walkie-talkies switched on (as Zak says, some other cells are probably too busy reading, playing PS2 or sleeping to notice that their walkie-talkies are not switched on), so when there is an instruction to lift the leg, maybe only 30 out of 100 of the cells are listening to their walkie-talkies and decide to lift the leg. So basically a way is needed to switch on the other walkie-talkies and get the cells to listen to the instruction).
The defective genes for X-Linked Myotubularin (MTM1) gene located on Xq28 and Autosomal Dominant forms Dynamin 2 (DM2) on 19p13.2 have been identified – the latter more recently by a team of scientists in France and US. For Autosomal Recessive form there is a possibility that the RYR1 gene may be responsible.
Another interesting recent finding by Professor Muntoni and his team is that RYR1 gene is responsible for a proportion of sporadic MTM cases, meaning that in these cases, there is a link with Central Core Disease.
The day was extremely interesting and uplifting and we were very grateful to Professor Muntoni and Dr Simonds for their helpful input and time. Thanks also to MDC for organising this information day.
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The Information Point has recently joined the Genetic Interest Group (GIG), a national alliance of patient organisations with a membership of over 130 charities which support children, families and individuals affected by genetic disorders.
Individually, many genetic conditions are rare and as such it can be difficult to raise their profile and the needs of those affected by them, however as a member of GIG, the Information Point will be able to become part of effective programmes to raise awareness, inform the media and influence government, industry and the NHS.
The primary goal of GIG is to promote awareness and understanding of genetic disorders so that high quality services for people affected by genetic conditions are developed and made available to all who need them. GIG seeks to educate and raise awareness amongst opinion formers, people of influence and the public about human genetics and genetic disorders. The organisation also works with the media on a variety of topics ranging from quotes from the Director of GIG in national newspapers, to helping members gain publicity for their condition through the consumer press. A quarterly newsletter is circulated to all the Regional Genetics Centres in the UK and to European bodies too and therefore provides another great opportunity to raise awareness of the work that GIG and its members do.
GIG is also involved in numerous projects, which look at a range of issues that affect those with genetic disorders for example the Eurogentest Project, a European wide project which aims to improve the information that patients receive across the EU when they are considering whether or not to take a genetic test and the Family Route Map Project which is currently working with six of the smallest member organisations to develop a route map through the maze of services that patients can receive. The project has found that in many cases, patients have different services in different areas of the country and the aim of this project is to find the areas of good service, so to enable patients to ask for similar access or information wherever they live in the UK. By working together both the patients and the specialist clinicians in each disease area are able to give patients the information and tools to find out more about the services that are currently available but which they may not have been made aware of.
As a member of GIG, the Information Point will now be able to share updates from GIG on the projects they have been working on and information on new publications, research and events.
Visit the Genetic Interest Group website.
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Accomplishments
The Information Point now has an area of the website set up to showcase the talents of those with Centronuclear and Myotubular Myopathy. There is no age limit and we would welcome all sorts of creative work, whether drawings, paintings, photographs, writing and poetry or anything else that you would like to share.
The image above was done by Adam Foye from New Jersey, USA who is 5 years old and has Autosomal Recessive Centronuclear Myopathy. We are looking forward to receiving much more creative work in the next few weeks and with Christmas just around the corner, it would be great to see some Christmas pictures too.
View Accomplishments web pages.
In our last issue we reported that Jessica Williams, the author of the book How to Give to Charity was donating all royalties due to her from sales, to a fund to be given to charity. Icon Books, the publisher, are matching these royalties with the same amount again.
The How to Give to Charity website has been set up to determine the recipient of these royalties. Many hundreds of charities have been nominated including the Myotubular Trust. Voting for the first six month period has now closed - the first winner was Girl Guiding UK. However there voting has now recommenced.
Teleconference Series, Autumn 2006
During September and October 2006 the Joshua Frase Foundation hosted its first ever educational teleconferences, believed to be the first free, open-access conferences ever held on Centronuclear and Myotubular Myopathy. Although designed primarily for families affected by MTM / CNM, the conferences were also open to physicians, researchers, health care professionals and others who wanted to learn more about the disease.
The Information Point asked the organisers of the conferences, Pat and Sarah Foye, what inspired them to run the conferences.
The Foye family is very familiar with the impact of Centronuclear Myopathy (CNM), a rare muscle disease that causes weakness, functional limitations and medical complications. Their son Adam has this rare congenital myopathy, sometimes known as Myotubular Myopathy (MTM). When baby Adam was diagnosed, his parents, Patrick and Sarah, were told there was no cure and that 50% of children with MTM die by age 2, but at age 5 Adam is beating the odds and taking his daily challenges in stride.
They also met with an inspirational family affected by the disease, Paul and Alison Frase, who started the Joshua Frase Foundation. During that trip to Boston, the Foyes transformed their relationship to the disease. They went from feeling like victims to being moved to making a difference. They also shifted their focus from taking care of Adam to making a difference for all the CNM affected families around the world and for the first time since Adam was diagnosed, they now have hope.
Pat and Sarah recently began a campaign, 'Moving from Hope to Cure'. The mission of the campaign is to make a worldwide difference in the area of CNM; the objectives, to support research to identify genetic mutations and understand the mechanisms of this disease, leading ultimately to a cure, educate families and health care professionals about CNM and about what supports are available for them, collaborate with other organisations fighting myopathies, raise general awareness about CNM
and raise funds to reach the above objectives.
The teleconferences marked the beginning of the campaign, with the intention to:
- Communicate: provide a structure for families to communicate and hear each other’s voices.
- Educate: spread information about current research, genetic issues and medical treatment.
- Unite: to bring together of families around the world. This unity creates a synergy for making a difference that is not available as individual families or organizations.
Three phone conferences were held over a 5-week period. With as many as 27 callers on the line live at one time, this may have been the largest number of MTM / CNM families conversing together in real time. Families called from multiple countries, including the USA, UK and Australia.
The speakers included:
Dr. Alan Beggs, PhD who spoke on current issues in Myotubular / Centronuclear Myopathy research. Dr. Beggs is an Associate Professor of Pediatrics at Harvard Medical School, where he runs a world renowned research lab in the Genetics Division at Children’s Hospital Boston and is one of the USA’s top researchers on MTM / CNM. He leads a group of physicians and scientists dedicated to understanding and curing MTM / CNM and other congenital myopathies.
Elizabeth Taylor, M.S., Genetic Counsellor and Research Study Coordinator at Children’s Hospital Boston, spoke on the topic of 'The genetics of Centronuclear / Myotubular Myopathy: What We Know and What we Think We Know'.
Dr. John Bach, MD, spoke on prevention of medical complications in CNM / MTM with a focus on respiratory management. Dr. Bach is based at New Jersey Medical School, where he is a Professor of Physical Medicine and Rehabilitation (PM&R), Vice-Chairman of PM&R, Professor of Neurosciences, Director of Research and Associate Medical Director of the Department of PM&R, Co-Director of the MDA Clinic at University Hospital, and Medical Director of the Center for Non-invasive Mechanical Ventilation Alternatives and Pulmonary Rehabilitation. Dr. Bach is internationally recognized for his ground-breaking work in non-invasive mechanical ventilation.
The teleconferences were a great success and it is hoped will be the first of many.
More information about the teleconferences can be found at the Information Point.
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Genes and Life
The Genes for Life programme available on CD and DVD offers a general introduction to genetics.
Divided into 3 sections, the programme tackles Genes and Health, Genetic Tests and Genes and the Future of Medicine. Section one explains how genetic information is transmitted within a family. It also explains genetic diseases and makes a clear distinction between single gene diseases and common diseases, similar to the explanations genetic professionals give when counselling families. Section two discusses the different tests available and the psychological and ethical issues that might arise from those tests and is careful to include both sides of the story. Section three looks at pharmacogenetics, that is the effect of genetic factors on reactions to drugs. The programme portrays normal families and the scientific information is presented in easy to understand language.
Visit the Genes for Life website.
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It's Not Too Much to Ask
BDF Newlife recently launched a campaign called It's Not Too Much to Ask. The campaign focuses on the terrible state of provision of equipment for sick, disabled and terminally ill children in the UK and aims to highlight to decision makers the major problems that families face with the provision of all sorts of equipment such as long delays, complicated application processes and refusal of basic equipment.
As a grant making charity, BDF Newlife hear from desperate families requesting urgent grants all the time. They have tried to get help from local authorities and health authorities but to no avail. Every day they hear of children being turned down for vital equipment because of a lack of funding, lengthy delays and disjointed services and of disabled children who are in pain or who are actually injured from not having the right equipment.
Visit the BDF Newlife website to learn more and to sign the petition.
The charity has also called for registers that record the incidence of birth defects to cover the whole country, after latest figures showed the latest figures showed there is still a huge gap in the way they are reported. Sheila Brown OBE, Chief Executive Officer of BDF Newlife says: 'Setting up regional registers, which would cover the whole of the country not just part of the population as now, is the only way we can find out the true scale of birth defects in this country. Knowing how many and what conditions are occurring is essential to improving child health, early detection of local cohorts of defects and to aid national and local planning of services appropriate to need'.
Read More About the Proposed National Birth Defects Register (Word 160 kb).
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Kids on the Block
One in six of the young people under 25 in Northern Ireland is disabled. Phab NI Inclusion Matters is the principal independent and voluntary youth organisation, which works for inclusion of these young people in our society by providing personal development and youth work opportunities for 0 - 25 year olds.
The Kids on the Block project, is a disability awareness project working in schools and community groups which uses specially developed 3 foot high puppets, each with their own disability, to address issues of disability and social exclusion by actively bringing to life real issues faced by people living with disabilities. The programmes consist of a scripted story puppet presentation followed by a guided question and answer session.
Other schemes include:
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Creative activity for 3 - 13 year olds providing stimulating and inclusive programmes for children with and without a disability
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Peer Education programmes to provide young people with a disability with the skills to counteract discrimination and aggressive behaviour levelled against them
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Sports development programmes creating inclusive activities such as
Parball - a new, exciting sport played in wheelchairs
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Young Fit and Active a programme that gets young people with and without disability participating in a wide range of physical activities.
Further information can be obtained from Leigh or Nicole at Phab NI Inclusion Matters on 028 9074 6555.
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International Day of Disabled Persons
3 December 2006
International Day of Disabled Persons this year aims to promote an understanding of disability issues and mobilise support for the dignity, rights and well-being of persons with disabilities and to increase awareness of gains derived from the integration of persons with disabilities in every aspect of life.
The theme of the day this year is the goal of full and equal human rights and participation in society by persons with disabilities.
Read more about the International Day of Disabled Persons.
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Learning for Living
Learning for Living is a new personal development course for unpaid carers.
In the UK over one and a half million people have given up their jobs to look after sick, disabled or frail relatives. These people often do not think of themselves as carers, but view caring responsibilities as part of their daily lives.
Often carers don't have the time to think about using their existing skills or getting new ones. A carer's confidence can be affected by time away from a paid job and by the isolation of their caring role.
If you would like to find out how Learning for Living could help you, you can read more about the programme and case studies at the Learning for Living website.
Open University
The Open University are currently offering a short course entitled Human Genetics and Health Issues.
The course examines the patterns of inheritance of genes, including those associated with genetic diseases; the Human Genome Project, which aims to discover all the genes found in the cells of a human being; how genes function; how the physical and biochemical characteristics of the body are produced; and why there are differences between individuals and between populations. Finally, it explores some of the issues surrounding research into genes, from biological, medical and ethical points of view: for example how knowledge of our genes has the potential to revolutionise our ability to change the genetic fates of individuals.
The course will equip you with sufficient background to understand these issues and to engage with discussions presented in newspapers and popular scientific journals. As well as some of the biology of genes, you will learn biology that you can apply to other situations. You will also engage with key issues of concern to health professionals.
For further information visit the Open University website.
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Are you a disabled computer user, frustrated by the inaccessibility of websites? Do you want to give your feedback to organisations on how to improve their website accessibility and earn money in the process by testing website content?
The Usability Exchange provides a straightforward way for organisations to test their content with disabled end users by setting up online tests and submitting them directly to disabled testers. Testers are free to complete these tests in their own time, earning money for each test they complete. As tests are completed by users, organisations can view test results, web page logs and other information in real time.
Registration is free for both organisations and testers.
Learn More About Usability Exchange.
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The Information Point website, webshop and newsletter are run on an entirely voluntary basis.
If you think you can help us with day costs of running the costs, please get in touch.
Remember! Don't throw your toner cartridges away.
One cartridge can be worth up to £6 and could help provide vital information to a newly diagnosed family.
• Eight toners could help provide a much needed physiotherapy session for a child with muscular dystrophy
• 20 toners could fund two hours of research - vitals hours to help scientists in their quest to find treatments and cures.
Organisations taking part in recycling initiatives are the Myotubular Trust and the Muscular Dystrophy Campaign. To learn more, either register as a supporter of the Myotubular Trust at Office Green or contact Peter Lawson at the Muscular Dystrophy Campaign on 020 7720 8055 or email info@muscular-dystrophy.org
Used postage stamps can also be sent to Peter Lawson at Muscular Dystrophy Campaign, 7-11 Prescott Place, London SW4 6BS.
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