World Rare Disease Day 2015


With 350 million people being affected by rare diseases worldwide, 80% of which are caused by faulty genes, the need to fund & support research aimed at increasing our understanding of genetics is the only way we can successfully seek to develop cures & treatment programmes for these rare conditions. Although in recent years we have been able to make significant breakthroughs in our understating of genetic diseases there is still a lag in our ability to develop effective treatments.

Last year we were able to share the exciting news that our Gene Therapy Unit (a joint initiative of Children’s Medical Research Institute and the Sydney Children’s Hospital Network) had developed a new therapy, curing genetic liver disease in mice.

Since then, in the last 12 months we were thrilled and extremely grateful to be promised $1m by the NSW government for a new Vector and Genome Engineering Facility. What this will allow is for our Gene Therapy team to bring their cure for rare inherited liver diseases to the clinic. In doing this the team will be able to move on to the next stage of their research programme enabling trials of their therapy in children. Leading us one step closer to developing a successful & integrated treatment programme.

Whilst the current treatment involves keeping affected babies as well as possible until they have grown & developed well enough to cope with a liver transplant there are inevitable risks associated, not only that a transplant is not always an option but organs can be rejected and there is the risk of immune suppression – ultimately the goal of the institute is to find a cure for this rare genetic condition.

Although achievable, the reality with gene therapy is that it is not something we are able to achieve overnight. What we can guaranteed is that reaching our goal of finding a cure will require money and a lot of hard work. This is why we would like to extend our thanks & seek your continued support.

To find out more on Gene Therapy check out this recent Saturday Paper article featuring the Children Medicals Research Institutes very own Ian Alexander and Samantha Ginn.

For more info on how you can support the institute click here.


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