Exclusive: First test of gene therapy for rare form of autism is underway Two years ago, a small biotech startup got permission to test a gene therapy for a rare and disabling form of autism. The plan: Deliver a gene that’s vital for ...

Jaguar Gene Therapy is testing a treatment for a debilitating form of #autism caused by a broken or missing #SHANK3 gene. Early results from six children are expected later this year. My latest for @endpts.com dives into the backstory of the science and the company.
endpoints.news/first-test-o...

Dado que con la segunda no he coincidido en este año, en los próximos días le irá un encargo a su tienda. Conozco a un niño con una mutación en el gen #SHANK3 implicado en este síndrome, pero él sólo es autista (mucho más afectado que yo).

A new promising path to research of new Phelan-McDermid syndrome treatments #SHANK3

Resumen en español del Congreso Internacional del Síndrome de Phelan-McDermid, celebrado en Barcelona del 26 al 29 de junio de 2025. youtu.be/-M-ibCxk9u8?... #SHANK3 #PhelanMcDermidSyndrome #CureSHANK

Join our Cloud HD Video Meeting Zoom is the leader in modern enterprise cloud communications.

Mañana domingo 6 de julio a las 12h estaré online para contar un resumen de los temas más interesantes que se trataron en el III Congreso internacional del Síndrome de Phelan-McDermid y el II simposio de @cureshank.bsky.social sobre desarrollo de fármacos para Phelan-McDermid #SHANK3 goo.su/ANLyN8

Wedding Cake (& Other Poems) by SHANK3

#poetry #SHANK3 #Bristol #goodreads #readingcommunity #writingcommunity #publishingcommunity

www.bristolnoir.co.uk/wedding-cake...

Neuren Pharma announces agreement with FDA on #PhelanMcdermidSyndrome co-primary endpoints for Phase3:
➡️ Receptive communication (measured with Vineland)
➡️ Global improvement (measured with PMS-anchored CGI)

Phase 3 to start mid-2025 ⭐

www.neurenpharma.com/showdownload... #PMS #SHANK3

Here is a "starter pack" to quickly find/follow other accounts interested in #SHANK3 #Phelan-McDermid syndrome.

Contact Ana Mingorance @cnsdrughunter.bsky.social if you would like to be included in the starter pack!

go.bsky.app/5LKoxop

Here is a Starter Pack if you want to quickly find other accounts interested in #SHANK3 Phelan-McDermid syndrome 👀

Let me know if you would like to be included!!

go.bsky.app/5LKoxop

Attention #SHANK3 #Phelan-McDermid syndrome scientists and advocates: at CureSHANK we are planning to make a Starter Pack here in 🦋 so that it will be very easy for new members to follow the community. Let me know if you want to be added!!! ☑️ ☑️ ☑️ ☑️ ☑️

Damien Huzard, PhD on LinkedIn: #autismresearch #wholeorganism #sensoryprocessing #neuroscience #innovation 🚨 Preprint Alert🚨 Excited to Share Our Latest Research on Autism, Sensory Deficits, and Non-invasive Therapeutic Insights! What started as a side…

Results preview from our recent Preprint available here: www.linkedin.com/posts/dhuzar...
#neuroskyence #autism #preclinical #research #itch #pain #shank3
🧪🧠📈🐁🐾

11/n
I posted the same thread on X before, but I'm happy to share it here again. #SHANK3 #stemcells #drugdiscovery

Investigating social orienting in children with Phelan-McDermid syndrome and ‘idiopathic’ autism - Journal of Neurodevelopmental Disorders Background Phelan-McDermid syndrome (PMS) is a rare genetic syndrome characterized by developmental delay/intellectual disability, absent or delayed speech, physical dysmorphic features and high rates...

Eva Loth and team examined orienting to social versus non-social stimuli in children with #Phelan-McDermid, caused by a deleterious variant in #SHANK3, compared to autistic (idiopathic) and neurotypical children.

Full paper here:
jneurodevdisorders.biomedcentral.com/articles/10....

Embryo editing of #SHANK3 #autism being tested in marmosets #CRISPR #CAS9>@TechReview

technologyreview.com/featuredstory/…

Embryo editing of #SHANK3 #autism being tested in marmosets #CRISPR #CAS9>@TechReview

technologyreview.com/featuredstory/…

Embryo editing of #SHANK3 #autism being tested in marmosets #CRISPR #CAS9>@TechReview

technologyreview.com/featuredstory/…

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#Shank3 gene dysfunction, one of those associated with #ASD, has been explained and reversed in rodents www.facebook.com/Dr.Yasser.AdDabbagh/post...