CNBC Cures Initiative: Tackling Rare Diseases Like Synap One
CNBC TelevisionJanuary 15, 20267 min2,683 views
13 connections·22 entities in this video→Understanding Synap One
- 💡 Synap One is a rare genetic disease characterized by a deficiency in the SynGap protein, impacting the development and function of synapses in the brain.
- 🧠 The disease affects the binary system of synapses, which are crucial for brain function, plasticity, and processes like seeing, feeling, and love.
- ⚠️ A significant portion of epilepsy cases are traced back to Synap One, making it a more common cause of seizures than initially thought.
- 🌍 While only 177 cases are identified globally, it's believed that the actual number of affected individuals is much larger, indicating a potential underdiagnosis.
Challenges and Potential Therapies
- 🔬 Researchers face challenges in supplying the missing SynGap protein, partly due to its rapid breakdown in the body and the difficulty of crossing the blood-brain barrier.
- 🧬 Gene therapy is considered a promising
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CNBC CuresRare DiseasesSynap OneSynGap ProteinSynapsesEpilepsySeizuresGene TherapyBlood-Brain BarrierGenetic DiseaseCNBCSquawk Box
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