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How Mutations in the MECP2 Gene Cause Rett Syndrome | Rett Syndrome Research Trust
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- čas přidán 15. 06. 2013
- A paper was published on June 16, 2013, in Nature Neuroscience describing key steps in how mutations in the MECP2 gene cause Rett Syndrome. The paper describes two crucial domains in the protein: the well known methyl binding domain and the newly described NCoR/SMRT Interaction Domain (NID). Mutations in either of these domains cause Rett Syndrome. This work was done via the MECP2 Consortium in the labs of Adrian Bird at University of Edinburgh in collaboration with Michael Greenberg at Harvard Medical School.
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The Rett Syndrome Research Trust is singularly focused on a cure for Rett syndrome. Achieving success takes a deep understanding of the relevant science, an environment built for scientific collaboration, and experience with drug and business development. Today we are building on incredible scientific and industry momentum by implementing six genetic-based strategies that tackle Rett from every angle. Every single company pursuing a cure for Rett is able to do so because they leveraged discoveries and resources that were generated with RSRT funding. RSRT is the home of the Rett cure community, and we are confident that together we will cure Rett syndrome.
I really like the narrator’s voice.. calm and soft
This is so clear and easy to understand! This PhD student THANKS YOU!!!
Wonderfully clear! Thank you so much.
If the mutation of Cytosine to Thymine is caused by inadvertent methylation of C, followed by spontaneous deamination, perhaps inhibitors of DNA C methyltransferase, like Decitabine, could slow down the disease. Also, maybe if the gene encoding the correct glycosilase could be expanded, maybe more repair enzymes could fix the mutation before it is permanent.
Thank you soo much
Hi Monica, Can I get a English transcription for this video? This is a valuable material I want to share with other RTT parents in Korea.
wow, thank you, made it found easy
if i had 100 thumbs-up function on CZcams, i'd be more than glad to give it 100 times
Poland loves Monica Coenraads :) Ps. Still good job.
My question is that my daughter is diagnosed rett syndrom with svere cp and all physical disabilities of function she dont hv sens to do things by herself what test and how i start from which level . Don know what to do or not.
Trofinetide & Blarcamesine as a possible solution?
4:04 if you in bis183
Epigenetics Medicine gives hope. Changing Environment can change expression of genes.
- Dawson Church
Book, 'The Genie in your genes' (2014)
Foreword by Prof. Bruce Lipton
Meditation, EFT & various other Energy Psychology techniques can improve quality of life.
Read books.google.com/books/about/Genie_in_Your_Genes.html?id=gemGDwAAQBAJ