Empowering Progress
Through Research
At TBCK Foundation, we're dedicated to propelling TBCK Syndrome research toward patient focused outcomes. Through collaborations with renowned institutions and driven scientists and advocates, we're committed to making a real difference in the lives of TBCK warriors and their families.
Patient Registry
Join our TBCK Patient Registry and become a cornerstone in the foundation of TBCK research.
Why join? When you participate in data collection you are contributing to research advancements, development of treatments and therapies, and advancing genetic insights. You will be advocating for warriors across our community. More patient data means more opportunities to connect science to the patient voice.
Research Opportunities
Community Registry
Join our community by registering with us. Your unique insights and experiences contribute to a collective understanding that guides research and fosters a network of support.
Natural History Study
Participate in the Natural History Study through the Children’s Hospital of Philadelphia to help us map the course of TBCK Syndrome.
Connect with CHOP
Support the research at the Children's Hospital of Philadelphia where a group of experts are leading TBCK research.
Research AwarD
June 2022
The TBCK Foundation funded $40,000 to Dr. Xilma Ortiz-Gonzalez at Children’s Hospital of Philadelphia through the Million Dollar Bike Ride Match Grant Program.
June 2021
The TBCK Foundation continued another year as a grantee of The Million Dollar Bike Ride awarding $50,000 to Dr. Gerry Downes at University of Massachusetts Amherst for research.
October 2020
The TBCK Foundation donated $50,000 to Children’s Hospital of Philadelphia for TBCK-related research by Dr. Ortiz-Gonzalez + Dr. Elizabeth Bhoj.
June 2020
The TBCK Foundation participated in The Million Dollar Bike Ride and matched donations to award $40,000 for research to Dr. Jay Vivian at Children’s Mercy Research Institute.
TBCK Syndrome Research & Advances
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TBCK Syndrome Characteristics
• How to describe TBCK Syndrome - Read more
• Explore the characteristics of TBCK Syndrome - Read more
TBCK in the FERRY Complex
• Discover how TBCK is a part of the FERRY complex and contributes to essential cellular functions - Read more
TBCK and hearts
• Learn about the role of TBCK in development - Read more
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TBCK and cancer
• Investigate TBCK's role in neurodegeneration and cancer - Read more
• Understand TBCK variant in patients with cancer - Read more
Cellular Consequences
• Understand the repercussions of TBCK deficiency on cell quality control checks - Read more
• New methods of genetic testing identify more TBCK warriors - Read more
• Growing the TBCK warrior community with better diagnosis - Read more
• Explore TBCK and communication in the brain - Read more
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Defining TBCK Syndrome
• Read about TBCK Syndrome, developmental, neurological, and facial features. - Read more
• Delve into TBCK variants causing intellectual disability and hypotonia - Read more
• Gain knowledge of TBCK warriors in Israel - Read more
• Siblings described in 2008 are diagnosed with TBCK Syndrome - Read more
• TBCK protein structure - Read more
The TBCK Foundation enthusiastically urges you to speak up by contacting your legislators about issues that affect you, your family, and your community.
The TBCK Foundation is a registered 501(c)(3) charity organization. Please note that we provide this information for the benefit of TBCK syndrome community. We are not a medical provider or health care facility and thus can neither diagnose any disease or disorder nor endorse or recommend any specific medical treatments. Patients must rely on individualized medical advising from qualified health care professionals before seeking any information related to their particular diagnosis, cure, or treatment of a condition or disorder. The TBCK Foundation is recognized as a 501(c)3 non-profit corporation. EIN 83-3095299.
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