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PHACTR1

Victor Chang Cardiac Research Institute

Grant:
  • Cardiovascular Research Leader Grant
Organ System:
  • Cardiovascular
Date Funded:
  • 23 March, 2020
Chief Investigator/s:
  • Professor Jason Kovacic

Project summary

Systematically understanding phosphatase and actin regulator 1 (PHACTR1).

What does the research aim to do and how?

Professor Jason Kovacic is among the world’s leading authorities on phosphatase and actin regulator 1 (PHACTR1), with his studies demonstrating the key role of this gene in multiple vascular diseases including fibromuscular dysplasia (FMD), spontaneous coronary artery dissection (SCAD) and coronary artery disease (CAD). Due to its profound complexity, prior research efforts spanning almost a decade have struggled to understand this critical gene. In response, Prof. Kovacic has set about to systematically understand PHACTR1 and wishes to establish a cutting-edge program of research in NSW to finally understand its causative mechanisms.

To do so, he has created unique mouse models where the entire PHACTR1 gene is deleted. Partnering with an Australian mouse engineering company (Ozgene), this important resource is now validated ready for immediate transfer to NSW and the VCCRI to facilitate these studies. The vital importance of these studies is underscored by the multiple vascular diseases where a role for PHACTR1 has been shown, including FMD, SCAD, CAD, migraine, cervical artery dissection and hypertension. Thus, the patient populations that stand to benefit from his proposed studies are substantial. PHACTR1 is a causative gene in multiple vascular diseases that afflict a broad spectrum of our population. Due to higher rates of obesity and smoking, CAD, a focus area of this proposal, disproportionately affects socioeconomically disadvantaged groups. Furthermore, PHACTR1 is also involved in the pathobiology of FMD and SCAD – both being diseases that affect women at about a 10:1 ratio over males. Thus, the proposed studies are of major relevance for priority population groups in NSW.