CSNK2A1 Foundation Strengthens Research Efforts with Appointment of Dr. Kimberly Goodspeed to Scientific Advisory Board

CSNK2A1 Foundation Welcomes Dr. Kimberly Goodspeed to Scientific Advisory Board

SAN FRANCISCO, CA, USA, November 20, 2023 /EINPresswire.com/ — CSNK2A1 Foundation, the sole organization dedicated to supporting individuals and families affected by Okur-Chung Neurodevelopment Syndrome (OCNDS), is pleased to announce the addition of Dr. Kimberly Goodspeed to its esteemed Scientific Advisory Board (SAB). Her appointment to the SAB signifies an exciting development in the organization’s pursuit of advancing research and support for those affected by OCNDS. Her expertise and passion are invaluable assets that will contribute to new insights, improved treatments, and enhanced support for individuals and their families.

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. Goodspeed brings a wealth of expertise to the CSNK2A1 Foundation. She is also a distinguished Dedman Family Scholar in Clinical Care, showcasing her exceptional dedication to clinical practice. Dr. Goodspeed specializes in providing comprehensive care to children and young adults with autism spectrum disorder and intellectual disability. Her deep understanding of rare genetic developmental disorders, such as Angelman syndrome, SLC6A1-related disorders, Phelan-McDermid Syndrome, and Rett syndrome, makes her a vital addition to the CSNK2A1 Foundation’s SAB.

“I am honored to join the CSNK2A1 Foundation’s Scientific Advisory Board and contribute to its mission of supporting individuals with OCNDS. Collaborating with experts from diverse backgrounds is crucial for developing innovative treatments and improving outcomes for affected individuals,” says Dr. Goodspeed.

With a passion for research, Dr. Goodspeed’s primary focus lies in unraveling the complex genetic causes behind developmental delays in children with autism spectrum disorder and intellectual disability. Her collaborative efforts with basic scientists aim to develop groundbreaking treatments, including gene therapy, for rare genetic developmental disorders.

“We are thrilled to have Dr. Goodspeed join our Scientific Advisory Board. Her extensive knowledge and dedication to finding solutions for rare genetic developmental disorders align perfectly with our organization’s goals. Her addition will undoubtedly strengthen our research initiatives and ultimately make a difference in the lives of those affected by OCNDS,” expresses Dr. Gabrielle Rushing, the CSNK2A1 Foundation Science Program Director. To learn more about the Foundation and its mission to improve the lives of those affected by OCNDS, please visit www.csnk2a1foundation.org.

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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 210 individuals with OCNDS in its patient registry worldwide. www.csnk2a1foundation.org

Jennifer Sills
CSNK2A1 Foundation
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