Exon-skipping approach boosts levels of key Rett syndrome protein
thetransmitter.org
Exon-skipping approach boosts levels of key Rett syndrome protein
Deleting a small region of the MECP2 gene partially restored function in neurons derived from people with Rett-associated variants.
4 weeks ago
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A genetic mutation on the MECP2 gene causes Rett syndrome, but what do we mean by “mutation?” Learn more about how genes are mutated and how mutations affect cell functions in this explanatory video. | Rett Syndrome Research Trust
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A genetic mutation on the MECP2 gene causes Rett syndrome, but what do we mean by “mutation?” Learn more about how genes are mutated and how mutations affect cell functions in this explanatory video. | Rett Syndrome Research Trust
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Having a child with MECP2 Duplication Syndrome (MECP2 DS) changed Jessica’s perspective on parenthood. Read about her son Jackson’s journey with MECP2 DS and how Phoenix Children’s vast team of pediatric specialists work closely together with Jackson’s family to provide seamless care: https://bit.ly/3y3KWpT Jackson's Journey MECP2 Duplication Foundation | Phoenix Children's
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Having a child with MECP2 Duplication Syndrome (MECP2 DS) changed Jessica’s perspective on parenthood. Read about her son Jackson’s journey with MECP2 DS and how Phoenix Children’s vast team of pediatric specialists work closely together with Jackson’s family to provide seamless care: https://bit.ly/3y3KWpT Jackson's Journey MECP2 Duplication Foundation | Phoenix Children's
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She counted to ten. Something so small for most, but for a girl with Rett syndrome, with an MECP2 deletion, it’s a miracle. The gene doesn’t promise this. Doctors don’t promise this. But Val did it anyway. Proof that even when the science says “can’t,” she whispers back “watch me.” #RettSyndrome #RettStrong #MiracleMoments #UnstoppableVal #MECP2 #RareButMighty #HopeLivesHere | Rett syndrome
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She counted to ten. Something so small for most, but for a girl with Rett syndrome, with an MECP2 deletion, it’s a miracle. The gene doesn’t promise this. Doctors don’t promise this. But Val did it anyway. Proof that even when the science says “can’t,” she whispers back “watch me.” #RettSyndrome #RettStrong #MiracleMoments #UnstoppableVal #MECP2 #RareButMighty #HopeLivesHere | Rett syndrome
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Here is a reminder of the potential of Gene Therapy in #RettSyndrome These mice are male "Rett" mice. The mouse moving around was given gene therapy treatment and received healthy MECP2 gene. The immobile mouse did not receive treatment. The video was taken 4 weeks after treatment. This work was done in the lab of Gail Mandel in collaboration with Adrian Bird and was financially supported by Reverse Rett via RSRT. #RettSyndrome #ReverseRett #ChangeisPossible https://www.youtube.com/watch?v=eBxPU
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Here is a reminder of the potential of Gene Therapy in #RettSyndrome These mice are male "Rett" mice. The mouse moving around was given gene therapy treatment and received healthy MECP2 gene. The immobile mouse did not receive treatment. The video was taken 4 weeks after treatment. This work was done in the lab of Gail Mandel in collaboration with Adrian Bird and was financially supported by Reverse Rett via RSRT. #RettSyndrome #ReverseRett #ChangeisPossible https://www.youtube.com/watch?v=eBxPU
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A genetic mutation on the MECP2 gene causes Rett syndrome, but what do we mean by “mutation?” Learn more about how genes are mutated and how mutations affect cell functions in this explanatory video. | Rett Syndrome Research Trust
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She counted to ten. Something so small for most, but for a girl with Rett syndrome, with an MECP2 deletion, it’s a miracle. The gene doesn’t promise this. Doctors don’t promise this. But Val did it anyway. Proof that even when the science says “can’t,” she whispers back “watch me.” #RettSyndrome #RettStrong #MiracleMoments #UnstoppableVal #MECP2 #RareButMighty #HopeLivesHere | Rett syndrome
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Dr. Ronald Emeson is using his RNA editing expertise to explore whether this approach could help address certain MECP2 mutations in Rett syndrome. An IRSF research grant helped make this work possible, and hearing from parents at IRSF’s annual Scientific Meeting made the science feel far less abstract—underscoring why his work matters. In this video, Dr. Emeson shares what drives his research and why families should feel hopeful as scientists work toward the safest and most effective ways to tre
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