February 29, 2024

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Leveraging on spatial tech to detect rare diseases in children

Credit: Curtin University

Researchers from Curtin University, in Western Australia, are leading an innovative project that uses spatial technologies that help identify rare diseases in children.

According to a recent press release, the Cliniface project uses spatial technologies like 3D mapping to analyse subtle facial features in children in order to help identify underlying medical conditions.

Why the need for Cliniface?

The Cliniface project aims to assist clinical diagnosis, drug treatment monitoring and clinical trials by using accurate and reliable 3D facial image visualisation and analysis methods.

Rare diseases were estimated to affect about 63,000 children in Western Australia alone, according to Research Fellow Dr Richard Palmer, from the Discipline of Spatial Sciences at the University’s School of Earth and Planetary Sciences.

He added that obtaining an early and accurate diagnosis was an unmet need.

Diagnosis, treatment and clinical trials for people living with rare diseases can be extremely challenging.

The need for a common interoperable digital tool that provides an objective means of measuring, analysing, determining and sharing facial variations, and that also supports existing and future research has become paramount.

What is Cliniface?

The shape and growth of the face is a window into a person’s health.

This technology is especially suited to younger patients where conditions can be discovered through tell-tale variations in the development of facial features.

It unobtrusively takes highly accurate measurements from a 3D image of a face and analyses them in seconds to help detect latent medical issues.

This tool is most useful when assessing whether a face has grown in a way that might be due to an underlying rare condition in childhood.

It has the capability to speed up the diagnosis and resulting medical intervention.

Moreover, the project was also seeking to unlock the power of 3D facial image of Indigenous children and newborns, according to Cliniface’s Project Manager, Dr Petra Helmholz.

Dong so will enable a more efficient diagnosis of rare diseases.

Some of the uses of the Cliniface platform include:

  1. Diagnostic assistance for genetic and rare diseases
  2. Screening for Fetal Alcohol Spectrum Disorder (FASD)
  3. Medical (drug) therapy monitoring for clinical trials and existing medicines; and facial and systemic or whole body conditions
  4. Surgical Planning and Audit
  5. Community engagement for science, medicine, arts and education

Where is Cliniface now?

Clinicians and institutes from across Australia as well as from overseas such as the United States, Europe and India have shown considerable interest on the project.

To add, the recently released latest version of the Cliniface application now includes new facial measurements, which allow clinicians to generate PDF reports.

This enables clinicians to highlight the facial traits that have been detected, which may have potential medical relevance.

Several agencies and organisations are working together to make this project a reality. They are the University,

The Cliniface project is a partnership between Curtin University, a not-for-profit organisation expert in spatial mapping, the Department of Health Western Australia, a children’s hospital in Western Australia, the Undiagnosed Diseases Program WA and a clinical trials facility in Perth.


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