STXBP1 #sciencefather #researchawards #STXBP1 #GeneTherapy #Neurogenetics

Neuron-targeted gene therapy for STXBP1-related disorders represents a promising breakthrough in treating severe neurodevelopmental conditions such as early infantile epileptic encephalopathy. STXBP1 mutations disrupt synaptic vesicle release, leading to seizures, developmental delays, and cognitive impairments. In this study, researchers used an AAV-based neuron-specific gene therapy to restore STXBP1 function in mice, which rescued multiple phenotypes including seizure frequency, motor coordination, and cognitive deficits. Importantly, the therapy was also well tolerated in nonhuman primates, showing no major safety concerns and paving the way for future clinical trials. This work highlights the therapeutic potential of precise, neuron-specific gene delivery for rare genetic epilepsies and neurodevelopmental disorders.

Event Name : International Molecular Biologist Awards
Website Link: molecularbiologist.org/
Contact Mail ID : support@molecularbiologist.org
Nomination Link : https://molecularbiologist.org/award-nomination/?ecategory=Awards&rcategory=Awardee

Follow On:
Twitterhttps://x.com/Camilla532645
Blogger https://molecularconference.blogspot.com/
Youtube https://www.youtube.com/channel/UCehrwFGWKbQa0mKDDNJCwvA
Pinterest https://in.pinterest.com/molecularbiologistawards/
Linkedin https://www.linkedin.com/feed/?trk=onboarding-landing
Instagram https://www.instagram.com/molecularawards
#STXBP1 #GeneTherapy #Neurogenetics #EpilepticEncephalopathy #SynapticFunction #NeurodevelopmentalDisorders #RareDiseaseResearch #PrecisionMedicine #AAVGeneTherapy #NeuronTargetedTherapy #Neuropharmacology #GeneticEpilepsy #Neurotherapeutics #BrainDisorders #SeizureControl #MolecularNeuroscience #Neurobiology #Neuroplasticity #TranslationalNeuroscience #Neurodegeneration #SynapticHealth #GeneDelivery #NeurogeneticDisorders #PediatricNeurology #Neurotherapy #PreclinicalResearch #AnimalModels #NonHumanPrimateResearch #CognitiveRescue #NeuroscienceInnovation

Видео STXBP1 #sciencefather #researchawards #STXBP1 #GeneTherapy #Neurogenetics канала Molecular Biologist Research