Top Tweets for #Timothysyndrome
Hoy es Día Mundial del Síndrome de Timothy
Aquí uno de los últimos trabajos de investigación, la esperanza 💚💜, en los casos de trastornos ligados a #CACNA1C #TimothySyndrome #LongQT8.
Gr. @Sergiu_P_Pasca 👍💪
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 years ago when I was a postdoc and continued with later creating in the lab #organoid and then #assembloid models of this disease caused by a mutation in a calcium channel.
Over time, these human cellular models and the biological insights we gained enable us to design a therapeutic strategy, which we validated in vivo following circuit integration of patient-derived organoids into the rat brain.
Grateful for the incredible work led by @XiaoyuChenxy and @fikribirey in the lab! And the many close collaborators who participated to this line of research over the years.

💙 El Síndrome de Timothy es una condición genética muy rara, con poquísimos casos en el mundo.
Hoy, 1 de octubre , me uno para crear conciencia y dar visibilidad a quienes vivimos esta realidad con amor y esperanza.
#TimothySyndrome #RaroPeroReal #SindromeDeTimothy #Inclusión

💛 “Connection turns isolation into action.” Together we’re building a future where CACNA1C disorders are better understood.
#CACNA1C #TimothySyndrome #HopeInAction @tsa_charity
As a #RareDisease charity social media algorithms do not work in our favour. Liking & RT posts with #CACNA1C effectively works like a breadcrumb trail for families & individuals looking for support, community & knowledge 📢 @tsa_charity #TimothySyndrome #LongQT8 #tuesdaytakeover
Always a trip speaking with @Sergiu_P_Pasca about the exciting future of developmental neuroscience! Congrats to his team on their remarkable progress identifying potential treatment for #timothysyndrome using lab-grown human brain cells!
In this week’s podcast episode, Stanford psychiatrist Sergiu Pasca, MD, @Sergiu_P_Pasca explains how growing human brain cells in the lab is leading to potential treatments for disorders of brain development.
https://t.co/3B94NjIdFR

"Learning how (and remembering) to constantly adjust my own mindset over time to manage hope with reality in a positive way."
#CACNA1C #TimothySyndrome #LongQT8 #StrongerTogether #RareDisease #Awareness #MentalHealth #MentalHealthSupport

"Knowledge is power. The more information you receive, the more you can help your child."
#CACNA1C #TimothySyndrome #LongQT8 #StrongerTogether #RareDisease #Awareness #MentalHealth #MentalHealthSupport

One of the best ways that you can look after someone else, is to look after yourself. This can be challenging as a carer. Try some of the following #CACNA1C #TimothySyndrome #LongQT8 #StrongerTogether #RareDisease #Awareness #MentalHealth #MentalHealthSupport

"I’ve gotta keep moving forward and keep doing the best I can do for her."
#CACNA1C #TimothySyndrome #LongQT8 #StrongerTogether #RareDisease #Awareness #MentalHealth #MentalHealthSupport

"Sometimes you feel like your own cheerleader, the nurse, the doctor, the teacher, the researcher." #CACNA1C #TimothySyndrome #LongQT8 #StrongerTogether #RareDisease #Awareness #MentalHealth #MentalHealthSupport

"Keep a good routine, slow down when you can and lean on other people where possible." #CACNA1C #TimothySyndrome #LongQT8 #StrongerTogether #RareDisease #Awareness #MentalHealth #MentalHealthSupport

"Everyone needs someone to vent to and to know you are not alone in this journey." #CACNA1C #TimothySyndrome #LongQT8 #StrongerTogether #RareDisease #Awareness #MentalHealth #MentalHealthSupport

This month we will be focusing on the perspective of being a carer to an individual(s) diagnosed with a CACNA1C related disorder. Our aim is to keep increasing the number of individuals that join our community. With your help we can do this.
#CACNA1C #TimothySyndrome #LongQT8

This week’s #journalclub was #EP-focused: Rodrigo dos Santos on #biopacemaker induced by Tbx18 mRNA, and @ThassioMesquita on #ASO for #Timothysyndrome. Both papers elegant but not fully convincing…but visit by talented ex-postdoc @YenNienLin1 enhanced the discussion!

Using 3D brain tissue structures called organoids, researchers tested a potential new therapy for a rare disorder called #TimothySyndrome. The results suggest that antisense oligonucleotides could form the basis for new treatment approaches. Read more: https://t.co/C7bKxKVw1U
🧠 Une étude de @Stanford sur des #rats a mis en lumière une maladie rare du #cerveau (#TimothySyndrome) et des traitements potentiels.
🐀 Cette étude a permis de développer une technologie où la transplantation d'#organoïdes cérébraux à partir de #cellules souches pourrait inverser génétiquement les anomalies.
@Sergiu_P_Pasca #RechercheAnimale
https://t.co/A9Rp5Wx6mR

🧠A @Stanford study in #rats has shed light on a rare #BrainDisease (#TimothySyndrome) & potential treatments.
🐀 It developed a technology where transplanting brain #organoids from #StemCells could genetically reverse the defects. @Sergiu_P_Pasca
https://t.co/Fqit3BCdb2
🧠A @Stanford study in #rats has shed light on a rare #BrainDisease (#TimothySyndrome) & potential treatments.
🐀 It developed a technology where transplanting brain #organoids from #StemCells could genetically reverse the defects. @Sergiu_P_Pasca
https://t.co/Fqit3BCdb2
Drs. @XiaoyuChenxy, @FikriBirey, and a team in Dr. @Sergiu_P_Pasca's lab developed antisense oligonucleotides to treat #TimothySyndrome! 🧠
@Nature paper: https://t.co/izRX7iWnzS
Discussion: https://t.co/jTbkUTw4oq

NIH News Week of April 22nd: https://t.co/sLY0c7mSzM
#cells #CellularDevelopment #brain #BrainCells #TimothySyndrome #covid #LongCovid #RECOVER #CovidResearch #malaria #antibody #ScienceNews #research #ScienceAdvancements #NIH
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