Search results for #TimothySyndrome
Drs. @XiaoyuChenxy, @fikribirey, and a team in Dr. @Sergiu_P_Pasca's lab developed antisense oligonucleotides to treat #TimothySyndrome! 🧠 @Nature paper: go.nature.com/3Qi2t9c Discussion: bit.ly/3QpDVLb
#EpigeneticTherapy for #TimothySyndrome? Researchers rescued neuronal function in organoid and rodent models by using antisense oligonucleotides to change how TS gene was spliced. Could be new therapeutic option via @Nature #biotech #RareDisease nature.com/articles/s4158…
Amazing research process for investigating a genetic disorder, in this case #TimothySyndrome npr.org/sections/healt…
NIH News Week of April 22nd: bit.ly/44m18Uv #cells #CellularDevelopment #brain #brainCells #TimothySyndrome #covid #LongCovid #RECOVER #covidResearch #malaria #antibody #ScienceNews #research #ScienceAdvancements #NIH
Stanford Medicine research on Timothy syndrome — which predisposes newborns to autism and epilepsy — may extend well beyond the rare genetic disorder to schizophrenia and other conditions. #raredisease #Timothysyndrome #autism #epilepsy #schizophrenia med.stanford.edu/news/all-news/…
Using a multilevel in vivo and in vitro stem cell model-based approach, scientists rescue neuronal function in cortical organoids derived from patients with #TimothySyndrome –a severe, multisystem disorder. @XiaoyuChenxy @fikribirey @Sergiu_P_Pasca ow.ly/PClR50RnFVx
🎧 Put this in your earbuds: Vilcek Creative Promise Prizewinner @Sergiu_P_Pasca speaks with @NPR on the discovery of an intervention for #TimothySyndrome, a #genetic disorder that affects #braindevelopment and is linked to some incidences of #autism. npr.org/2024/04/24/124….
Nature Open Access: Antisense oligonucleotide therapeutic approach for #TimothySyndrome nature.com/articles/s4158… #ASD #Autism #Epilepsy #MentalHealth #Genetics #CdnPoli #SciComm #SenCA
⚡️ The latest issue of @Nature includes new research by @Stanford #neuroscientist @Sergiu_P_Pasca on #TimothySyndrome. Born in Romania, Pasca received a @Vilcek Prize for Creative Promise in 2018. 🔗 nature.com/articles/s4158… #Immigrants #ImmigrantsinSTEM #AutismResearch
⚡️ The latest issue of @Nature includes new research by @Stanford #neuroscientist @Sergiu_P_Pasca on #TimothySyndrome. Born in Romania, Pasca received a @Vilcek Prize for Creative Promise in 2018. 🔗 nature.com/articles/s4158… #Immigrants #ImmigrantsinSTEM #AutismResearch
Gene-based therapy restores cellular development and function in brain cells from people with Timothy syndrome - please check the link for more information ow.ly/zOAw50RofEf @NIMHgov #RareDiseases #TimothySyndrome #Neuroscience #BrainFunction
#TimothySyndrome #RareDiseases Thank you for all your efforts @Sergiu_P_Pasca @fikribirey @XiaoyuChenxy @RebeccaJLevyMD @JFGUnderwood
Excited to have contributed to this work by Dr Chen, @fikribirey @Sergiu_P_Pasca and so many others to try to discover a way to help #timothysyndrome and thankful always to @tsa_charity @TimothySyndrome and the TS Foundation
Excited to have contributed to this work by Dr Chen, @fikribirey @Sergiu_P_Pasca and so many others to try to discover a way to help #timothysyndrome and thankful always to @tsa_charity @TimothySyndrome and the TS Foundation
It was a privilege today to host the amazing @panagiog from @IcahnMountSinai, and learn about development of cortical neurons, and alternative #splicing of #CACNA1C #calcium #ionchannel involved in #TimothySyndrome.
During a genetic test, a sample of DNA (saliva or blood sample) is then analysed in a laboratory to look for specific changes or variations in genes that are associated with certain conditions or traits. #CACNA1C #TimothySyndrome #LongQT8 #RareDiseases
Os testes genéticos são exames médicos que examinam o DNA de uma pessoa para procurar alterações ou variações em seus genes. Esses testes podem ajudar a identificar condições genéticas, incluindo #CACNA1C #TimothySyndrome #LongQT8 #somostodosraros #doencarara #raros
This month, we are taking a journey of our rare disease, from identification to diagnosis and symptoms, through to our community (focusing on Brazil) and the support it offers, to advocacy and research. #CACNA1C #TimothySyndrome #LongQT8 #RareDiseases
Este mês, vamos levá-lo em uma jornada de doenças raras, desde a identificação até o diagnóstico e os sintomas, passando pela comunidade e o apoio que ela oferece, até a defesa e a pesquisa. #somostodosraros #doencarara #raros #CACNA1C #TimothySyndrome #LongQT8
I’ve been spending a lot of time since Theodora lost her battle with #TimothySyndrome on the hiking trail. Moments like this seem to calm my soul, even for a moment #sads #RareDisease #grief
