A Phenomics Australia case study
Phenomics Australia has enabled an international research consortium to identify the genetic cause of a previously undiagnosed autoinflammatory disease (CRIA Syndrome).
The challenge: Effective CRIA Syndrome treatment is limited.
Humans suffering from this rare condition present a series of painful symptoms of unknown cause, including periodic fevers and swollen lymph nodes, recurring from early childhood and throughout adulthood. Sufferers have previously been treated with anti-inflammatory medications that provided varying degrees of acute relief, but due to the unknown cause, effective disease management has been limited.
The solution: Discover the genetic basis of the CRIA Syndrome.
As part of an international collaboration between Australia and the US, Phenomics Australia helped to identify the genetic cause of the CRIA syndrome, a previously unknown human autoinflammatory disease.
Phenomics Australia provided, through the Melbourne Advanced Genome Editing Centre (MAGEC) at WEHI in Melbourne the opportunity to obtain genetically engineered (CRISPR) mice bearing altered genes that mimic the mutations found in patients with CRIA syndrome.
Thanks to these models researchers have discovered the genetic basis of this inflammatory disease. Such an outcome has a direct clinical impact on the care of suffers now being offered certainty in their disease diagnosis and ongoing treatment.
The future: Offer an alternative and better treatment to patients.
“Understanding the molecular mechanism by which CRIA syndrome causes inflammation gives us an opportunity to get to the root of the problem, and to offer an alternative to existing treatments.” Dr Dan Kastner, Director, National Human Genome Research Institute at the National Institutes of Health (NIH).
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