RNU4-2 Emerges as a Leading Cause of Rare Neurodevelopmental Disorders – Renewing Hope for Families
ReNU syndrome is a spliceosomal disorder with a defined mutational hotspot and growing global dataset. Currently ~250 confirmed cases worldwide (14 in Italy), though the true number of undiagnosed cases is estimated to be much higher: pathogenic variants are concentrated in just 13 positions of our 3 billion base-pair genome!
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Parent Connection
You're not alone! Find hope and community with parents worldwide.
Research
Participate now to accelerate research and the development of new therapies!
Scientific Committee
The Scientific Committee ensures scientific rigour and authority, collaborating with families and professionals.
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Promoting research, building community, and spreading awareness. Every contribution matters!
More Information
Learn about how ReNU occurs, typical features and how development is affected.
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Spread awareness of ReNU Syndrome and help reach undiagnosed families.
"Together, we make a difference"
Our association is finally a reality and can count on the support of those who, like you, want to make a difference. You can now contribute with a concrete gesture to help children and families affected by ReNU Syndrome in Italy.
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"Slow, strong and determined: the ReNU turtle represents the journey of those who never give up and reach their goal one step at a time."Reny is the turtle mascot of Sindrome ReNU Italia APS. With energy and a smile, she accompanies children, families and friends in all association initiatives.
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Our children and families
Discover the faces and stories of Italian children with ReNU Syndrome and their families.
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Italy & World Map RNU4-2
RNU4-2 families mapped in Italy and 38+ countries worldwide. Add yourself to the map and help strengthen research.
See MapStories from ReNU Families
Real stories from around the world, from the ReNU Syndrome United community.
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Share your storyStories from the international community
The International ReNU Network
National partner associations worldwide