Greenwood Genetic Center Awarded Grant for Innovative Research in ”Childhood Alzheimer’s”
Cure Sanfilippo Foundation Supports Work to Accelerate Diagnosis and Treatment for Rare Genetic Disorder
(November 3, 2025) – The Greenwood Genetic Center (GGC) has been awarded a $156,000 research grant from Cure Sanfilippo Foundation to launch a groundbreaking project aimed at improving diagnosis and identifying potential therapies for Sanfilippo syndromes type A and B (MPSIIIA, B), rare and devastating childhood disorders.
The GGC research team, led by Rich Steet, PhD, Director of Research, will develop the first functional cell-based platform to study how genetic variants in the SGSH and NAGLU genes —responsible for MPSIIIA and MPSIIIB, respectively — affect enzyme function. This tool will provide physicians and scientists with much-needed clarity when genetic testing identifies variants of uncertain significance, helping families receive faster and more accurate answers.
Sanfilippo syndrome type A (MPS IIIA) and type B (MPS IIIB) are progressive, inherited conditions caused by genetic variants that prevent cells from producing enough enzyme needed to break down heparan sulfate. This leads to the toxic buildup of substances in the brain and other organs, resulting in developmental regression, severe neurological symptoms, and a shortened lifespan. The progressive neurological and cognitive decline has led to it being known as ”childhood Alzheimer’s.”
Building on GGC’s prior success with a similar platform for a related disorder, MPS I, the project will also include drug-repurposing studies. Nearly 1,800 FDA-approved drugs will be screened using the new cell-based models to identify compounds that may boost the activity lysosomal enzymes known to be deficient in children with MPS III.
“At the Greenwood Genetic Center, our mission has always been to combine cutting-edge science with compassionate care for families,” said Steet. “This grant builds upon that mission by creating resources that will not only clarify difficult diagnoses but also accelerate the search for effective and personalized treatments for children with Sanfilippo syndrome.”
Cure Sanfilippo Foundation was started by a GGC family following the diagnosis of their daughter. The organization is dedicated to advancing research that directly benefits patients and families and has raised millions of dollars for research and clinical trials.
“This project represents a significant step forward for Sanfilippo research and patient care. By developing a robust platform for variant analysis and screening existing drugs, we are opening new doors to faster diagnoses and urgently-needed treatments,” said Cara O’Neill, MD, Chief Science Officer & Co-Founder of Cure Sanfilippo Foundation. “The Greenwood Genetic Center has done so much for our family and thousands of others impacted by rare diseases. Their expertise in the diagnosis, treatment, and research of lysosomal disorders makes them an ideal partner with us on this project.”
Impact of the Project
- Provides the Sanfilippo community with the first scalable diagnostic platform for MPS IIIA and B.
- Supports future newborn screening efforts by helping interpret uncertain genetic results.
- Tests drugs that are already FDA-approved for other conditions for their potential to improve brain and cellular health in patients, shortening the timeline to clinical application.
About Cure Sanfilippo Foundation
Cure Sanfilippo Foundation is a 501(c)(3) nonprofit dedicated to advocating and funding research for treatments and a cure for Sanfilippo syndrome. The Foundation partners with researchers, clinicians, and families worldwide to accelerate progress and improve the lives of children impacted by this devastating disorder. Learn more at www.CureSanfilippoFoundation.org.