PRESIDENT’S Report to the Members of the HSP Research Foundation I
Towards a cure
Charting a research pathway towards a cure together with the National Centre for Adult Stem Cell Research (NCASCR) and initiating the stem cell Pilot Study are major achievements for the HSPRF.
A research agreement with Griffith University titled “How do HSP SPG4 mutations affect cellular functions in HSP patients” was signed by both parties in June 2009. The first of four payments of $25,000 each has been made.
However work began back in late 2008. The first phase was to collect stem cell samples. This was managed by the Kolling Institute of Medical Research within Sydney University and the Sydney node of the NCASCR. The initial job was to find HSP volunteers to donate nasal stem cells. HSPers learned of the request via our website and also the ANZAR (neurologists association) Newsletter, resulting in many volunteers. 30 samples were taken when the minimum requirement for the research was 10.
The gene testing service funded by the HSPRF the previous year ensured all samples were from HSPers with a mutation in the SPG4 gene. Stem cells are now growing in culture at Kolling and at Griffith where the study is being conducted. Gene expression work (how the cells of HSPers differ from non-HSPers) is expected to be completed by the end of the month.
A mid-point review in the study is scheduled for August, with the report available on the website soon after. Also, I will be reporting on the review at the Melbourne AGM and Workshop on August 16 and at the Sydney Workshop on Oct 25. Future research activities, prospects and funding will also be covered.
The HSP community concerned with this rare disease can be proud of the fact their search for a cure in Australia is being supported by 2 Medical Research Institutes in 2 States within 2 universities.
Extending Gene Testing
The Annual Report last year reported on the successful establishment of a gene testing service available to all Australians at risk of HSP within NSW Health. The service offers tests for the detection of mutations in SPG 4,3A and 6 which represent a little less than half of all HSP. One of our aims in 2008/09 was to investigate mutation detection in the remaining genes known to cause HSP. We have learned that to establish tests to cover an estimated additional 25% of patients will cost $200,000 over 2 years. The technology in this field is advancing rapidly and affordable, effective testing for more mutations may not be far away. So we have taken the decision to concentrate our funding on research ‘towards a cure’ for now.
Paying for Gene Testing
Overall, the provision of gene testing in Australia is uncoordinated and inefficient with Medicare funding little. It is wrong to expect a rare disease like us to pay for research and establishment of tests in total. I have voiced our concerns to Government by letter to the Federal Health Minister.Here is an excerpt:
POLICY on GENETIC TESTING and RESEARCH of RARE DISEASE
This letter is about the genetic testing industry structure, its suitability to service the current and future needs of the reported 1.5 million people affected by rare diseases and what can be done. It uses an actual case to illustrate current and potential shortcomings and suggests areas for policy change.
Specifically we ask you to consider the introduction of legislation that enable gene testing services to be coordinated within a national framework to replace the disparate and mostly State Government based system. The legislation would result in the establishment of one register of prevalent and rare inherited diseases linking a new national network of services. It will be readily used by the clinician, clinical scientists and laboratories, including research laboratories that develop and oversee the commissioning of new tests.
A single system will facilitate rapid communication and exchange of test methods, requisitions and results. These improvements would bring Australia close to world best practice.
Creating Awareness of HSP
Creating public awareness of HSP, HSPers and the Foundation could absorb big dollars and achieve little. We achieved a positive response from a Brisbane daily newspaper, the Courier Mail and Channel 10 when the Pilot Study was announced at Griffith University, but this was a micro-dent on public awareness.
Conversely, as far as creating awareness with health professionals goes, we benefited from the coverage in the neurologists newsletter about the need for stem cell donors.
It is worth noting that 4 teaching hospitals in Sydney call on one of our members during post-graduate exams where he presents as a patient for clinical diagnosis by students. Thus hundreds of future physicians who may never see a patient with HSP in clinical practice are getting exposure to HSP in a teaching setting. Given the issue of mis-diagnosis of HSP, this has got to help.
During the year, I spoke to a meeting of about 50 neurological and research geneticists and gave each one a brief handout to pass on to their patients.
Building the Australian HSP Community
At the last AGM, the role of the HSPRF in building the Australian HSP community was discussed. It was decided to hold the next Workshop & AGM in Victoria, setting the stage for people to make new or renewed contacts. The Workshop and AGM is being held in Melbourne on August 16th, with a Workshop also scheduled in Sydney on Oct 25th. It is hoped to expand the Workshop concept to other locations in ensuing years.
Another community building initiative of the HSPRF is a ‘postcode study’ of community members to see if local groups can be identified with the prospect of getting together face-to-face. Individuals in a potential local group area will be contacted for expressions of interest.
We are an “orphan disease” when it comes to Grants from major funding organizations. One major funder gave our submission for $50,000 a thorough going over for their key requirements and, though rejected, rated it highly. Similarly our application to the Newman Foundation received a good response but no money. We continue to target the major funders to finance our pathway towards a cure.
However the reality is that our current funding comes mainly from individual donations and from community grassroots initiatives. We need more such fundraising activities associated with sporting events (such as sponsorship in fun-runs), sporting and recreational clubs, service clubs such as Rotary or Lions, fetes, cake-bakes and so on. The other largely untapped source of fundraising is via workplace programs, where staff can contribute to a charity often matched by company funds. It is up to all of us to take the initiative, so talk to someone in Human Resources where you work about starting a workplace giving program.
HSP Research Foundation Inc.