Annual Conference 2004 |
| This year our annual conference combined with the MDC’s Annual Charity Members meeting and their Northern Conference. The meeting was held in the Ramada Jarvis Hotel, Otley Road, Leeds. There were over 130 participants and MDC staff including 43 FSH group members.
After a welcome by Lyn Inman (MDC Regional Director) the meeting began with a review of the last year by Christine Cryne the MDC’s Executive Director. Most charities found 2003 a difficult one financially and in particular legacy income, which is always unpredictably variable, was low for that year. Being chosen as Sommerfield/Quik Save charity of the year is helping and new fundraising initiatives are beginning to pay off. The Joseph Patrick Trust gave 229 grants for equipment of which nearly half were for wheelchairs. The magazine ‘Target MD’ was revamped with an aim to include more practical articles. The Neuromuscular Centre saw 127 patients given physiotherapy and educational/employment training mainly in IT.
The MDC is campaigning for improvements in the Disabled Facilities Grant (Northern Ireland and Scotland are more generous than England) and wheelchair services. Public awareness of MD is being raised in a campaign which has already achieved success in reaching a readership of 13.8 million with articles in 7 national and 101 regional newspapers as well as items on national and regional TV and Radio.
The next presentation by two MDC Regional Officers outlined major fund-raising events past and future. Last year a sponsored walk of the Great Wall of China by members raised £50,000 and in 2005 there is to be a sponsored trek in Patagonia.
‘It’s a Knockout’ events are being held at various sites throughout the UK in 2004. Members were urged to take part and ‘Achieve your dream’.
Professor Volker Straub, The Harold Macmillan Chair of Medicine in Newcastle gave an update on Research into MD. His background is in Paediatric Neurology and he took up his new position last October.
The talk was divided into four sections; the muscular dystrophies, pathogenic aspects, treatment strategies and the latest antisense oligonucleotides research.
The MDs are characterised by muscle weakness and wasting, they are determined genetically, are progressive and result from a primary defect in the affected muscle cells. There are more than 30 known gene loci associated with MD which has a prevalence of between 1 in 2000 to 3000. He then illustrated various points in muscle fibres where the defects in different cellular structures were important. Many of the defective proteins are associated with the cell membrane and result in various dystrophies e.g. Duchenne, Becker, Limb Girdle. Cell membrane damage and repair were illustrated graphically. Next, treatment strategies for Duchenne MD were discussed. The muscle cell damage follows a progressive course from the initial structural defect through membrane instability, necrosis, inflammation and finally to fibrosis. A surprisingly large number of pharmaceutical companies are looking for methods to intervene and stop this progression by halting the process at various points along the way. Thus there are potentially many treatment strategies. Unfortunately, there are, as yet, no treatments available on the market. Finally he described the latest research approach to treat Duchenne by using ‘antisense oligonuleotides’. Duchenne muscle cells make an inactive form of the important protein Dystrophin, while in the related condition, Becker MD, the cells make a modified but partially functional form of Dystrophin. While the error in the Duchenne dystrophin gene can only make an inactive protein it is possible with a process known as ‘induced Exon skipping’ (using the ‘antisense oligonucleotide’ technique) to by- pass the ‘error’ in the gene so that messenger RNA is produced that can code for a functional, if imperfect, form of Dystrophin. The technique has been demonstrated in the MDX mouse model of DMD and variations offer hope of use in anticancer and antiviral therapies also.
Prof. Straub also led the FSH session in the afternoon as described later.
Ruth Geall, the MDC Care & Research Director brought us up to date with advances in the Care and Research fields. Clinical care services are concentrated at the 3 muscle centres in Oxford, Hammersmith and Newcastle with new Muscle networks established in Scotland and most recently, Wales. At these centres there is integration between clinical services and research. There are also three rare condition specialisms, (Congenital MD, Limb Girdle MD and Myasthenia Gravis) split between the three muscle centres.
In March this year the MDC organised a symposium for care professionals with workshops and discussion sessions to bring them up to date. The ‘North Star Project’ is a new initiative to provide a nationwide standard of muscle strength measurements that can be applied in clinics across the country. ‘Condition specific days’ and conferences, Fact sheets, Research reviews and updates, revamped web site, new edition of the Adaptations Manual and an Advice and Information telephone line are new or upgraded initiatives of the Campaign. Future developments in care services include a review and pilot study of exercise and physiotherapy, self management materials and Care Cards for a range of conditions including, FSH.
Ruth and Christine both reported that Jenny Versnel, the campaign’s Head of Research had put together a consortium of UK scientists to bid for money from the Government White Paper on Genetics and, thanks to joint lobbying with two other groups, they won an allocation of £1.6 million to be administered through the MDC. This project hopes to get to early stage clinical trials within 4 years.
The morning session ended with the Annual Charity Members Meeting when the Annual Report and Accounts are received followed by the election of a Chairman, Vice Chairman and Hon. Treasurer. A ballot was held to elect two National Councillors, the results to be announced in the next Target MD. The business meeting took less than 30 minutes. We then broke for lunch.
FSH Support Group Annual Meeting.
Chairman Martin Fielden welcomed everyone (43+ in the room) and in particular our past Chairman, Gordon Nutter and Wendy who live quite close to the hotel. It was good to see Harry and Ann Mulholland from Northern Ireland once again. Apologies from our Secretary and Treasurer, Lorraine and Norman Jonas were given as they had to attend an important family event that weekend. The finances are quite healthy and membership has grown steadily. We also welcomed two visitors from France who belong to the French FSH group, which is a condition specific subsection of the AFM, the French equivalent of the UK MDC. The French group is fairly new and has ~60 members. Martin hoped that a new chairman could be found for our support group as he has done the job for 4 years now and a fresh face would be welcome.
Professor Volker Straub opened the FSH Specific session with a talk followed by a Q&A session. He reviewed the present state of knowledge of FSH.
Microscope sections of normal MD affected muscle were shown where the fibrotic inclusions resulting from damage followed by inflammation and necrosis was visible.
He described how DNA was isolated from blood samples and how, in FSH patients, chromosome 4 showed a shortened section on the long arm due to a deletion of a repeat section at the end of the chromosome. If the deletion results in a section that has less than 11 repeats then symptoms of FSH may occur.
Because the missing section is not a gene and therefore does not code for and generate a protein, FSH is different to other MDs such as Duchenne where the DNA mutation results in a non functioning protein. If the missing DNA is not a gene how can its absence cause the condition? There is evidence to show that the missing piece would normally double back on itself and interact with nearby DNA that does have genes. The result of this interaction seems to inhibit those genes from producing the proteins they code for. Not all the genes in our DNA are normally expressed (which is just as well as we have 99% of the same genes as a chimpanzee! mf)
It is proposed that failure to repress these genes on chromosome 4 results in the production of unwanted proteins that bring about the symptoms of FSH. This leads to the exciting possibility that it may be possible to develop molecules that bind to the same sites that the missing repeat sections masked, and similarly inhibit gene activation. This is potentially simpler and safer than the gene transfer therapies that are proposed for some of the other dystrophies.
The speaker summed up by saying that:-
Finally he ended with a quotation:- It is difficult to say what is impossible, for the dreams of yesterday are the hopes of today and the reality of tomorrow.
(Robert H Goddard)
Several questions were asked by our members:-
Q. One member commented that they had been very fit and active until well into their 50s when deterioration due to FSH became apparent. Was this due to a worsening immunological status or something else?
Q. If the same DNA error is present throughout the body why are muscles on one side of the body sometimes affected years before the same muscles on the other side?
Q. One member was concerned that his use of prescription drugs to control blood pressure could, by affecting Calcium levels, make muscle damage worse.
The possibility of cell transplants was discussed and the French visitors reported on a muscle transplant that had been used to correct an ankle that was badly twisted due to MD. The ankle was straightened but proper function was not recovered.
The Chairman thanked Professor Straub on behalf of all present with applause.
During the afternoon FSH session there were five workshops in parallel for other MDC members. These were, Mobile Arm Supports, Coping with loss, Carers issues, Direct employment of carers by the patient and Fundraising/Volunteers.
There was a final open session before tea and close of the meeting at 4.30.
Next year we will revert to a pure FSH-SG conference.
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Professor Volker Straub, The Harold Macmillan Chair of Medicine in Newcastle gave an update on Research into MD. |
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