REFSUM RESEARCH STUDY NEWS RELEASE

Contact Information:
Global DARE Foundation
Kristie DeMarco,President
kristie.demarco@globaldare.org

 

For Immediate Release

$60K Refsum Mouse Model Study

Grant Approved

August 2023

 

Global DARE Foundation has approved funding $60,000 towards an adult Refsum Disease (ARD) mouse model study that will be conducted at Kennedy Krieger Institute.

 

The goal of the study is to generate genetically engineered PHYH-mutant mice that accumulate phytanic acid when placed on special diets and determine if they develop ARD symptoms, such as progressive vision and hearing loss and a peripheral neuropathy.

 

If successful, the ARD mouse model can be used to better understand why phytanic acid is toxic in people and test therapies aimed at reducing phytanic acid toxicity in order to improve the lives of people living with ARD.

 

The preliminary data generated from this study can be used to apply for larger federal grants to perform more comprehensive studies aimed at finding better treatments for ARD. 

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For more information about Refsum disease and to support our research program, visit the Global DARE Foundation's website

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