Message from the Chairman
David Blatt
Chairman
In 2007 five members of our family were simultaneously diagnosed with Alport Syndrome. Some had been unwell for years while others had no symptoms. We recognised that there was no support group or organisation targeting research In Australia for this debilitating disease. We set about creating the Alport Foundation of Australia.
This genetic problem was thought to effect 1 in 5000 people, and recent activity suggests the figure could be even higher. The most common form is X-linked which means that women (XX) pass it on with a 50-50 chance and men (XY) Pass it on 100% to daughters, 0% to sons. It is also a lot more severe in men (90% chance of kidney failure by age 40) vs women where one of the two X chromosomes is able to hand on the ‘correct’ instructions.
We aim to encourage both Australian research and Australian participation in human trials here and overseas, as well as providing information and some assistance to people with this problem. The Alport Foundation of Australia is a charitable fund with DGR (deductible gift recipient) status (details here). This was an an involved process, but as a result we have a constitution a very good board with both experts in this field and a range of other relevant skills. And important contributing tasks (such as the creation of this website) are being done on a regular basis — there is always a lot to do.
Initially we were unaware of any organization focussing on Alport Syndrome, but we soon discovered there is a US based Alport Syndrome Foundation, formed in 2007. Alter our Initial contact, we had discussions in person with the president and treasurer of this group. They are very active, and have already organized and sponsored international research symposiums and have a good website . The problem of Alport syndrome is a truly international one, and we take pride in our strong relationship with the US Alport Syndrome Foundation, a key partner in our activities. We encourage Australians to both register with the Alport Foundation of Australia and also put feedback and personal stories on the www.alportsyndrome.org bulletin board – It is important for us to share our experiences, to improve the outcomes for all.
Research in this field is truly international — for example, in November 2008, one of our board members (Prof. Savige) is co-chairing the Alport session at the American Society of Nephrology (ASN) 41st Annual Meeting with Prof Kashtan, a US based researcher who is on the medical advisory committee for the US Alport Syndrome Foundation.
One of the most important parts of our message is that Australians should take pride in the exceptional track record of medical research in this country. Is there anybody out there who hasn’t heard of the momentous discovery of the DNA double helix? But how many people are aware that the fundamental enabling step behind this discovery was the Australian invention of x-ray crystallography – basically allowing us to photograph molecules. A string of achievements is saluted in this great little summary by the ABC Catalyst team. This includes multiple Nobel prizes, inventions described as the most significant in their field in the last century, and another one on the list of Time magazine’s 100 Most influential People in the World for 2007. Developments range from penicillin based antibiotics, to human growth hormone, bionic ears, cervical cancer vaccines, pioneering work described as the cornerstone of our understanding of the central nervous system, and the list goes on.
The message here is that Australian research is well placed to make significant advances and well connected with other international research efforts – our mission is simply to help that process. And our promise to you, as a supporter of this endeavour, is that every penny will be directed to where it matters and will be well spent.
If that isn’t encouragement enough, let me add the reminder that so often, when research breakthroughs happen, they are not restricted to the field generating the initial interest. Although no-one has a treatment or cure yet for Alport Syndrome in humans, research is already at the point where the genetic molecular basis of the problem is well understood. The fundamental problems that remain to be solved are in the mechanisms for correcting the DNA errors. With my limited expertise, I won’t try to summarize this complex area of research. But I just want to comment that where ever a breakthrough comes from in this field, it will most likely lead to many others outside it. More and more rare disorders are being tracked down to their DNA mechanisms as this exciting field of genetic research progesses.
So let’s see what we can do to oil the wheels, and help both researchers and the many people affected by this problem.