Resources
About KDM5C
KDM5C disorder, also known as Claes-Jensen syndrome, is a rare genetic condition caused by a mutation in the KDM5C gene. It is an X-linked neurodevelopmental disorder that leads to a range of symptoms affecting development, behavior, and physical health. Key features often include intellectual disability, developmental delays, seizures, and behavioral problems.
What is an ASO?
An ASO—“antisense oligonucleotide”—is a precisely designed genetic molecule that helps correct how a gene sends its message. For children like Birdie, ASOs have the potential to restore some of the function lost due to the mutation, improving development, cognition, behavior, and overall quality of life.
Our Partners
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We are partnering with n-Lorem to fund and support the research necessary to determine if there is a therapeutic strategy for Birdie’s mutation, and if successful to support the development of an ASO medicine to treat her.
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Rare Village’s goal is to empower families as treatment advocates by providing education, connections and tools to help them simplify their rare disease treatment work. We are proud to partner with them on this journey.
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We are proud to be a part of the RTW Foundation’s Rare Disease Advisory Program. The RTW Foundation’s mission is to power rare disease research, medical innovation, and local community collaborations to improve the health of underserved populations.
