A rare disease discovered at The University of Queensland that gave an Australian family a diagnosis for their son’s mystery illness is the subject of a new book Cracking the Code.
UQ’s Institute for Molecular Bioscience (IMB) and Australian Institute for Bioengineering and Nanotechnology (AIBN) are inviting interested locals to join them for a public author event from 5.30pm on Wednesday 1 April to celebrate Penguin Random House’s upcoming new release.
Register now to attend this free event.
Returning to IMB where it all began, husband and wife authors Stephen and Sally Damiani will speak to guests about their quest to find a diagnosis for their son Massimo’s disease.
Suffering from an unknown form of leukodystrophy - a condition linked to the loss of myelin, the electrical insulation around neurons - Massimo’s development suddenly began to regress.
His family watched their toddler gradually lose his ability to crawl, sit, walk and eat.
Together with IMB researchers and an international team of medical specialists, gene-sequencing technology revealed Massimo had a genetic mutation in a gene not previously linked to human disease.
Professor Ernst Wolvetang, a stem cell biologist from AIBN, will also speak at the event about his ongoing research funded by the authors’ Mission Massimo Foundation to search for new treatments for this rare disease.
“Knowing the cause of a new disease is the first step towards discovering a treatment or cure,” Professor Wolvetang said.
“Thanks to the generous support and dedication of the Damiani family, our research is aimed at discovering new ways to improve the function of this defective gene using patient specific stem cell models”
Interested locals can register to attend the free event at imb.uq.edu.au/cracking-the-code-registration.
Event details
What: Public author event to celebrate the upcoming release of Cracking the Code
When: 5.30pm-6.15pm Wednesday 1 April 2015 (refreshments to follow)
Where: Large Seminar Room (access via ramp from Chancellor’s Place), Queensland Bioscience Precinct (Building 80), The University of Queensland, 306 Carmody Road, St Lucia
Register: imb.uq.edu.au/cracking-the-code-registration
Contacts
Gemma Ward, IMB Communications Manager, 07 3346 2134, 0439 651 107, communications@imb.uq.edu.au
Margaret Puls, AIBN Communications and Marketing Manager, 07 3346 3962, 0419 578 356, m.puls@uq.edu.au
