The Yaya Foundation Awards Children’s Hospital of Philadelphia Grant for Biomarker Research- Related to POLR3-Related Leukodystrophy

The Yaya Foundation for 4H Leukodystrophy (4HL) recently awarded a grant of nearly $50,000 to the Children’s Hospital of Philadelphia (CHOP) to examine the use of non-coding RNA (ncRNA) as a biomarker for 4HL (also known as POLR3-Related). Having sensitive biomarkers –a measurable substance in the body– for 4HL is critically important for diagnosis and for developing targeted therapies and treatments in the future.

“One of the challenges of 4HL is early detection and diagnosis, and there is not yet any known treatment or cure for the disease,” said Ron Garber, co-founder and Board President of the Yaya Foundation. “Having specific, unique biomarkers for 4HL will enable researchers at CHOP and around the world to diagnose people more effectively and to develop therapies that will enable people affected by 4HL to live longer, more healthy lives. The Yaya Foundation is really excited to partner with CHOP on this important step.”

4HL is caused by autosomal recessive mutations in genes encoding subunits of RNA Polymerase III (RNA Pol III), which disrupt typical ncRNA production. This means that we may be able to use these atypical ncRNA levels to detect 4HL earlier in individuals before they show symptoms, and to help determine the effectiveness of potential treatments during a clinical trial. Right now, developing therapies for 4HL is challenging as there is a lack of validated biomarkers for 4HL. This study could change that.

The study will look at blood samples from 4HL patients to determine abnormalities in ncRNA with the aim of identifying novel biomarkers. The project will be led by Dr. Laura Adang, attending physician in the Division of Neurology at CHOP and Dr. Colin Conine, Assistant Professor of Pediatrics and Genetics at CHOP. Dr. Conine will partner with the Global Leukodystrophy Initiative (GLIA), an NIH funded consortium lead at CHOP by Dr. Adeline Vanderver and the Leukodystrophy Center of Excellence.

I am thrilled to be able to partner with the Yaya Foundation to continue the excellent work that will help us to be ready for future clinical trials,” said Dr. Laura Adang.

The project is currently underway and will be a building block for future 4HL research studies.

About the Yaya Foundation

The Yaya Foundation is dedicated to accelerating discovery of treatments and a cure for 4H Leukodystrophy and to providing educational and emotional support for people and families living with 4HL. The Yaya Foundation is the only organization in the world dedicated to advocating on behalf of people affected by 4HL. To learn more about the Yaya Foundation and how you can get involved, please visit our website: https://yayafoundation4hl.org.