SAN FRANCISCO, CA, UNITED STATES, September 19, 2023/EINPresswire.com/ — The CSNK2A1 Foundation (Foundation) is thrilled to announce the addition of Dr. Rachel Bailey to its esteemed Scientific Advisory Board (SAB). With over a decade of experience in genetic research and a strong passion for finding treatments, Dr. Bailey’s expertise will be crucial in accelerating the path to treatment for individuals with Okur-Chung Neurodevelopmental Syndrome (OCNDS).
OCNDS is an ultra-rare genetic syndrome first described in 2016. It is caused by a mutation on chromosome 20 in the CSNK2A1 gene. Profoundly impacting the lives of affected individuals and their families, OCNDS presents a wide range of symptoms, which can vary from mild to severe. These symptoms include delayed speech or the inability to speak, global developmental delay, epilepsy, autism, behavioral challenges, low muscle tone, feeding difficulty, and sleep disorders. There are less than 250 individuals diagnosed with OCNDS worldwide, and currently, no specific treatments or cures are available.
Dr. Bailey brings a wealth of knowledge and dedication to the Foundation. Dr. Bailey holds dual bachelor’s degrees in biology/Bioinformatics and Molecular Biology from Rensselaer Polytechnic Institute. She completed her Ph.D. in Neuroscience at the University of Florida, focusing on tauopathy modifiers and discovering the link between the LRRK2 protein associated with Parkinson’s disease and the tau protein. During her postdoctoral fellowship at the University of North Carolina Chapel Hill, she contributed to developing AAV-based gene therapies for Giant Axonal Neuropathy, Charcot-Marie-Tooth disease type 4J, and Multiple Sulfatase Deficiency. Now at UT Southwestern, Dr. Bailey continues her pioneering work in gene therapies for neurological disorders, including pediatric conditions and complex diseases like Alzheimer’s disease, employing advanced AAV vector engineering and translational research.
Over the past five years, the Foundation has diligently worked to build a robust research toolbox to expedite the path toward effective treatments and, potentially, gene therapy for individuals living with OCNDS. Dr. Bailey’s unique expertise aligns perfectly with the Foundation’s vision, and her addition to the SAB marks a significant milestone in their quest for groundbreaking treatments.
Dr. Rachel Bailey expressed her enthusiasm about joining the SAB, stating, “I am honored to be part of the Foundation and its mission to improve the lives of individuals with OCNDS. The Foundation’s commitment to research and its dedication to finding effective treatments is inspiring. I believe that together, with our collective expertise and shared drive, we can make a meaningful impact on the lives of those affected by this rare genetic syndrome.”
Dr. Gabrielle Rushing, the Foundation’s Science Program Director, added, “With the possibility of gene therapy on the horizon, Dr. Bailey’s involvement in the SAB is seen as a major catalyst in expediting treatment development for OCNDS. Her specialized knowledge and experience will play a pivotal role in advancing the Foundation’s research efforts and ensure that we are at the forefront of cutting-edge research and advancements in the field.”
To learn more about the Foundation and its mission to improve the lives of individuals with OCNDS, please visit www.csnk2a1foundation.org.
About CSNK2A1 Foundation
CSNK2A1 Foundation is focused on finding a cure for Okur-Chung Neurodevelopmental Syndrome and ensuring affected individuals have the opportunities and supports necessary for happy and full lives. CSNK2A1 Foundation is a 501(c)(3) non-profit organization that is operated and funded by a committed team of volunteers, advocates, and researchers. To date, the Foundation has registered over 190 individuals with OCNDS in its patient registry worldwide. www.csnk2a1foundation.org