Patrick Fortuna’s quest to tackle rare genetic disorder Prader-Willi syndrome is off to a promising start, with recognition from The University of Queensland for his Masters studies.
Mr Fortuna won UQ’s inaugural John Kapeleris Medal for Biotechnology for his Masters studies, completed jointly between the Australian Institute for Bioengineering and Nanotechnology and the School of Chemistry and Molecular Biosciences.
The Masters study was carried out in AIBN Associate Professor Ernst Wolvetang’s laboratory, where Mr Fortuna was subsequently employed as a research assistant since his graduation late last year.
“I originally wanted to study medicine, but then I thought I would be treating people with no knowledge of why I was prescribing the treatments,” Mr Fortuna said.
“I wanted something different: to understand molecular basis of diseases and involve myself in medicine from a stem cell research perspective.
“During my time with Ernst Wolvetang, I developed a novel assay to assess the safety and quality of human induced pluripotent stem cell lines.
“Being able to distinguish between so-called good and bad stem cell lines with this assay will help in selecting cell lines appropriate for use in regenerative medicine and thus accelerate their use in clinical settings.”
Mr Fortuna has plans to continue his studies with a PhD at the AIBN aimed at uncovering the genetic cause of Prader-Willi syndrome, as part of a collaborative project which secured funding from the National Health and Medical Research Council (NHMRC).
The project will investigate the role of Small nucleolar Ribonucleic acid (snoRNA) molecules in Prader-Willi syndrome, a disease with an incidence between 1 in 25,000 and 1 in 10,000 live births.
Characteristics of Prader-Willi syndrome include low muscle tone, short stature, incomplete sexual development, cognitive disabilities, problem behaviours and a chronic feeling of hunger that can lead to excessive eating and life-threatening obesity.
Although it is clear that a genomic deletion is the most common cause of Prader-Willi syndrome, how this leads to such a severe disease state is still a mystery.
Induced pluripotent stem cells genetically engineering with precise and desired mutations offers a unique way to unravel the molecular genetics that underpin Prader-Willi syndrome and lead to more effective targeted therapies for this disease.
Source: AIBN Quarterly