advocates who help raise community awareness and understanding about the importance of health and medical research.
Congratulations to 2017 Advocacy Award Winner: Sanfilippo Children’s Foundation
The mission of the Sanfilippo Children’s Foundation is to fund medical research so a cure can be found in time for children battling Sanfilippo today, and for those born with it tomorrow. The Foundation was established in 2013 by Megan Donnell following the shock diagnosis of Sanfilippo Syndrome in both of her children – Isla and Jude –then aged just 2 and 4.
Sanfilippo is an extremely rare, progressive, genetic disorder with a dire prognosis. Life expectancy is just 12-20 years and the quality of life for those years is very poor. There is currently no approved treatment. Under a competitive grant program, the Foundation funds projects that aim to:
• Halt disease progression
• Repair and reverse the cell damage
• Improve the quality of life of children with Sanfilippo.
Over the last 4 years the Foundation has raised over $3 million in support of its mission to fund medical research into Sanfilippo Syndrome and funded 7 different projects including a pioneering gene therapy human clinical trial currently underway here in Australia. With the support of their Scientific Advisory Board, the Foundation is currently evaluating further projects for funding in 2018.
In order to achieve this, the Foundation has built collaborative relationships with their sister Sanfilippo organisations worldwide, as well as other patient groups within the Australian rare disease community.
As a global community, these patient-led organisations bring together researchers, clinicians and families to collectively make a difference. This is an extraordinary and inspiring story of how a small, family-led foundation has overcome challenges, driven collaboration and achieved key research outcomes for a largely neglected rare condition.
The Foundation’s success extends well beyond the Sanfilippo community and also represents a major advancement for the Australian research community. Moreover, it provides a glimmer of hope for families faced with an unthinkable diagnosis.
Image caption: Megan Donnell [Sanfilippo Children’s Foundation], Nadia Levin [Research Australia]