Fundraiser:
The Charité–Baylor–Boston Children’s TNPO2 Research Project
Help us fund an international research collaboration between Charité, Baylor College of Medicine, and Boston Children’s Hospital working to better understand TNPO2-associated disorders and advance targeted treatments for affected children.
Help us transform the lives of children like Vera (left) and Leo (right)
Project Approach
About
TNPO2-associated disorders are extremely rare and severe neurodevelopmental conditions affecting children and families around the world. Today, there is no cure and very little known about how these disorders progress, leaving families facing immense uncertainty and limited treatment options.
Now, an interdisciplinary research initiative led by Charité, in collaboration with experts at Baylor College of Medicine and Boston Children’s Hospital, is working to change that. This groundbreaking project seeks to better understand the underlying disease mechanisms and advance targeted therapeutic approaches that could transform the future for affected children.
This research cannot move forward without you. Every donation directly supports this critical work and brings hope to families searching for answers. Together, we can help advance better treatments — and move closer to one day finding a cure.
The project combines several key components:
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International Clinical Collaboration: Systematic collection of patient data to improve understanding of disease progression and prognosis
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Human Neuronal Model: Generation of nerve cells from patient-derived cells to study the disease directly in a human neuronal system for the first time
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Analysis of Disease Mechanisms: Investigation of how TNPO2 mutations disrupt essential cellular and neuronal processes.
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Development of New Therapeutic Approaches:
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Testing already approved medications (drug repurposing)
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Evaluation of innovative therapies, including mutation-specific ASO therapies
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