Changing Faces, Changing Lives
Exploring aberrant chondrocyte death as a new origin of craniofacial defects
Project Title
Researcher
Assoc Prof Quenten Schwarz
Institution
University of South Australia
At a glance
Clinical applications of new discoveries in hope of improving patient care
Assoc. Prof. Schwarz’ previous research uncovered that dietary supplements given to pregnant mothers can alter how the cranial skeleton of their babies grow. Remarkably, in some situations they found that these dietary changes can lessen the impact of genetic defects that lead to smaller jaws during pregnancy.
The results for this previous funding were used as preliminary data for the newly funded research project and are being written up in manuscript for submission this year.
Summary
Mandibular hypoplasia is a common congenital malformation with limited treatment options that necessitate major reconstructive surgery. While life-saving, these interventions result in a major burden of care, with long-term outcomes often below expectation. Genetic defects have been defined in a small number of cases (i.e. TCOF mutations in Treacher Collins), however, the underlying biological mechanisms leading to jaw defects remain unknown in most cases and stand as a major area of unmet medical need.
Assoc. Prof. Schwarz’s work intends to uncover the molecular mechanisms regulating normal jaw growth and further identify chondrocyte death as a new biological origin of mandibular hypoplasia which will provide patients and families with answers to why they have been affected.
Anticipated Outcomes
This new knowledge is expected to provide the necessary information for development of diagnostics, predictive testing, preventative interventions and therapeutic strategies to complement existing surgical interventions to enhance jaw growth post-natally.
current research
research in progress
One of the main goals of Craniofacial Australia is to drive discoveries for a better future. We are at the forefront of craniofacial research thanks to funding the brightest minds in Australia and beyond. Here is a round up of our current research.
the university of adelaide
Psychosocial support needs for families living with craniofacial conditions
Prof Rachel Roberts
Dr Amanda Osborn
Assoc Prof Diana Dorstyn
university of south australia
Exploring Aberrant Chondrocyte Death as a new original of craniofacial defects
Assoc Prof Quenten Schwarz
