PROJECT:     Exploring aberrant chondrocyte death as a new origin of craniofacial defects

RESEARCHER:   Associate Professor Quenten Schwarz. Head of Neurovascular Research

LOCATION:  University of South Australia

We once again welcome Associate Professor Quenten Schwarz, whose new research project, commenced August 2024, aims to uncover the molecular mechanisms regulating normal jaw growth.

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.

WHY THIS RESEARCH MATTERS

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