Timothy Syndrome Alliance (TSA) @tsa_charity
We're dedicated to improving the diagnosis, treatment and care of those living with #CACNA1C-related disorders including #TimothySyndrome and #LongQT8. timothysyndrome.org Joined November 2020-
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Excited to announce our first published journal article now online in @TARareDisease as part of its special issue for #rare #epilepsy research. It highlights the clinical trial readiness work spearheaded by the Foundation that support research for all #CACNA1A disorders.
Embarking on their charity tour, AJ & @CurtisPritchard , joined by Calvin & Sophie from @tsa_charity , saddled up for a day of horse riding, mixing fun with learning about the rare disease charity, with some of the squad showing off their riding skills while others were total…
Sophie Muir's personal experience, witnessing her son Calvin struggle with a CACNA1C-related disorder without adequate resources or knowledge, propelled her to become the CEO of the @tsa_charity , driven by a brave determination to ensure improved support and awareness for…
@tsa_charity @Sergiu_P_Pasca @fikribirey @XiaoyuChenxy @JFGUnderwood Thank you for supporting TS and CRD families and researchers! There is still much work to be done to work towards improving diagnosis, care, and treatment for everyone
🔴 Un parche genético corrige un síndrome con autismo en un cerebroide humano injertado en una rata elpais.com/ciencia/2024-0…
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
Un parche genético corrige un síndrome con autismo en un cerebroide humano injertado en una rata. Un revolucionario avance de @Sergiu_P_Pasca, comentado por @SilviaM_Velasco, @ira_espuny y @tsa_charity 👇 elpais.com/ciencia/2024-0…
Timothy Syndrome Alliance has seen its community triple in size in recent years, showcasing the global impact of unity and collective support for individuals affected by the rare disease. With a focus on raising awareness, funding research, and providing resources, Timothy…
Meet Vicente, age 3 yrs 5 mths. Motor delays, ASD, stereotypies, hypotonia, doesn't speak a word, epilepsy, hypoglycaemic & autonomic system crises, tachycardia. The protein coded by the #CACNA1C gene functions in many different tissues and organs. #ThinkCACNA1C
Conheça o Vicente, com 3 anos e 5 meses de idade. Atrasos motores, TEA, estereotipias, hipotonia, ausência de fala, epilepsia, crises de hipoglicemia e do sistema autônomo... a proteína codificada pelo gene #CACNA1C funciona em muitos tecidos e órgãos diferentes. #ThinkCACNA1C
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
Please advertise the following Funded PhD on Determining the genetic and circadian basis of bipolar disorder with @AliceisnotFren1 @GurpritLall @CircadianMHNetw findaphd.com/phds/project/f…
Durante um teste genético, uma amostra de DNA (saliva ou amostra de sangue) é então analisada em um laboratório para procurar alterações ou variações específicas nos genes que estão associadas a determinadas condições ou características. #somostodosraros #doencarara #CACNA1C
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
Sergiu P. Pasca @Sergiu_P_Pasca
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These two scientists are incredible 👏
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
Excited to announce our first published journal article now online in @TARareDisease as part of its special issue for #rare #epilepsy research. It highlights the clinical trial readiness work spearheaded by the Foundation that support research for all #CACNA1A disorders.
Honored to be a part of the work being done at the @cacna1a foundation.
Excited to announce our first published journal article now online in @TARareDisease as part of its special issue for #rare #epilepsy research. It highlights the clinical trial readiness work spearheaded by the Foundation that support research for all #CACNA1A disorders.
In our @Nature paper published last week, we identified a potential therapeutic for Timothy Syndrome (TS) using human neural #organoids, #assembloids and neurons from TS patients transplanted into rats. Here’s a more detailed description of what we found 👇
Embarking on their charity tour, AJ & @CurtisPritchard , joined by Calvin & Sophie from @tsa_charity , saddled up for a day of horse riding, mixing fun with learning about the rare disease charity, with some of the squad showing off their riding skills while others were total…
En @elnacionalcat_e @GMarfanyN nos habla del “notición”, explica el síndrome #Timothy, el de #Brugada, para entender la nueva terapia publicada en @Nature Es una enfermedad ultrarara, un gen causativo con isoformas distintas y la historia fascinante de una terapia antisentido,…
@tsa_charity @Sergiu_P_Pasca @fikribirey @XiaoyuChenxy @JFGUnderwood Thank you for supporting TS and CRD families and researchers! There is still much work to be done to work towards improving diagnosis, care, and treatment for everyone
Targeting RNA opens therapeutic avenues for Timothy syndrome dlvr.it/T608QX
Such a thrill to see our work on developing genetic theraputics for Timothy Syndrome on the cover of @Nature today. One of the most gratifying projects i've ever worked on, alongside @XiaoyuChenxy with @Sergiu_P_Pasca at the helm. Excited for what lies ahead for dev. theraputics!
Today, I’m thrilled have our lab’s work featured on the cover of @Nature In this article, we have developed a therapeutic approach for a severe condition called Timothy syndrome. This has been a long journey. It started with making hiPS cell-derived neurons in 2D cultures 15…
🔴 Un parche genético corrige un síndrome con autismo en un cerebroide humano injertado en una rata elpais.com/ciencia/2024-0…
Today, I’m thrilled have our lab’s work featured on the cover of @Nature In this article, we have developed a therapeutic approach for a severe condition called Timothy syndrome. This has been a long journey. It started with making hiPS cell-derived neurons in 2D cultures 15…
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
Today, I’m thrilled have our lab’s work featured on the cover of @Nature In this article, we have developed a therapeutic approach for a severe condition called Timothy syndrome. This has been a long journey. It started with making hiPS cell-derived neurons in 2D cultures 15…
Un parche genético corrige un síndrome con autismo en un cerebroide humano injertado en una rata. Un revolucionario avance de @Sergiu_P_Pasca, comentado por @SilviaM_Velasco, @ira_espuny y @tsa_charity 👇 elpais.com/ciencia/2024-0…
Timothy Syndrome Alliance has seen its community triple in size in recent years, showcasing the global impact of unity and collective support for individuals affected by the rare disease. With a focus on raising awareness, funding research, and providing resources, Timothy…
Please advertise the following Funded PhD on Determining the genetic and circadian basis of bipolar disorder with @AliceisnotFren1 @GurpritLall @CircadianMHNetw findaphd.com/phds/project/f…
AJ & Curtis Pritchard are gearing up for their next adventure on their Charity Spotlight tour. Their latest stop? Timothy Syndrome Alliance @tsa_charity is a charity dedicated to supporting individuals and families affected by CACNA1C-related disorders, including Timothy…
@Stanford_Neuro @StanfordMed @StanfordChild @tsa_charity @TimothySyndrome and the Timothy Syndrome Foundation are amazing advocates for this disorder