(1/3) Our Junior Research Fellow @sallysansom.bsky.social gave a talk at the @stannescollege.bsky.social AGM & Alumni Dinner reflecting on her personal experience of rare disease #AngelmanSyndrome, her academic journey, the science of genomic medicine, & the importance of careful evaluation
🎄 An end of year message from EBiSC.
Thank you to all our partners, collaborators and Users! Wishing you a peaceful festive season and a successful year ahead in 2026.
distribution.ebisc.org/2025/12/2025...
#iPSCs #UKDRI #CureCMD #Angelmansyndrome #Alzheimer's
Angelman syndrome is rare (~1 in 15,000) but one of the most *actionable* neurogenetic conditions. Thanks to collaboration between FAST, Yale University & EBiSC, a curated iPSC panel now reflects the full range of AS genotypes.
🔗 ebisc.org/search?q=Yui
#AngelmanSyndrome #iPSC #RareDiseases
@ionispharma, not on Bluesky, on the designation for their investigational medicine for #AngelmanSyndrome (AS) ir.ionis.com/news-release...
FYI: LucidQuest Views >>> Rare Diseases Weekly News – July 17th 2025 #News #als #AngelmanSyndrome #clinicaltrials #Glioma Comment below!
ICYMI: LucidQuest Views >>> Rare Diseases Weekly News – July 17th 2025 #News #als #AngelmanSyndrome #clinicaltrials #Glioma Comment below!
LucidQuest Views >>> Rare Diseases Weekly News – July 17th 2025 #News #als #AngelmanSyndrome #clinicaltrials #Glioma Comment below!
Click Subscribe #Ultragenyx #FDA #AngelmanSyndrome #BreakthroughTherapy #StockMarket
In #HappinessFalls, a family whose dad goes missing must deal with “cryptic ways of referring to things you don’t want to say out loud.” #AngieKim explores how family secrets & the struggles of a child with #AngelmanSyndrome cause division & ultimate understanding.
Actor Colin Farrell discusses placing his son with Angelman Syndrome in a long-term care facility for better support and care. Join the conversation using . #AngelmanSyndrome https://fefd.link/ZvWIj
Congratulations 🥳 @taeseonwoo.bsky.social 📷 from the @margolislabnyu.bsky.social on a successful talk on the #GI issues in the Angelman Syndrome mouse model at the @gatlinburg.bsky.social in San Diego, CA! #GatlinburgCon #AngelmanSyndrome gatlinburg.lsi.ku.edu #NYU #NYUpainresearchcenter #NYUdental
Elizabeth in the bunch bike with parents Russell & Jeannie standing alongside. Mom and daughter are wearing Angelman Syndrome Foundation t-shirts!
Delighted to share this gorgeous #FirstRide pic from Elizabeth, Jeannie and Russell - winners of this year's giveaway.
Family biking is for everyone - all ages, all abilities! Read their story here: bunchbike.com/blogs/the-bu...
#cargobike #bunchfam #angelmansyndrome #inclusion
I’m so pleased and thrilled to share with you that my fabulous friend Chief Scout and adventurer DwayneFields is joining me on my Mount Meru trek 💜
It is going to be amazing and we are both super excited for the challenge
Please support us if you can, Thx x
#AngelmanSyndrome
gofund.me/da616349
Text: What is Angelman Syndrome? Image: Two parents hugging their son with Angelman Syndrome.
Angelman Syndrome (AS) has been added to the Brain Diseases A–Z section of our website. This is a rare neurogenetic disorder causing developmental delays and lifelong disability. But research may find a cure. #AngelmanSyndrome Read more: buff.ly/SSKerJW
Want to learn more about the clinic?
https:www.mrcc.org.uk/clinical-diagnostics/oth... #AngelmanSyndrome
#rarediseaseday2025
#rarediseaseday
In Sept 2023, a new multidisciplinary clinic launched in collaboration with Manchester FT, Manchester Rare Conditions Centre, & AngelmanUK, becoming the UK’s only specialist Angelman Syndrome clinic. It offers expert, patient-centered care nationwide. Learn more: www.angelmanuk.org #AngelmanSyndrome
Read more about Allison and Amy in the Concord Monitor: concordmonitor.com/angelman-
syndrome-rare-genetic-disorder-governor-proclamation-news-Concord-59431451
#AngelmanSyndrome #InternationalAngelmanDay #AngelmanSyndromeAwareness #RareDiseaseMonth #DisabilityAdvocacy
[Totally heartwarming.]
#ColinFarrell Opens Up About His Son With #AngelmanSyndrome | PEOPLE youtu.be/JDiD8Z3lWQk?... via @YouTube
#AngelmanDay #HopeForCures #SupportMatters #angelman #angelmansyndrome #support #awareness #angelmanawareness
Today is #InternationalAngelmanDay!
I love working with this patient population and am so proud to be part of a specialty clinic to support patients with #AngelmanSyndrome and #Dup15q.
youtube.com/shorts/3LE2k...
#AngelmanDay2025 #Medsky #NeuroSky #PsychSky
UCLA Receives $5.8 Million to Enhance Gene Therapy for Angelman Syndrome #United_States #Los_Angeles #AngelmanSyndrome #GeneTherapy #UCLA
“Someone who inherits only the version of the gene [ #Chromosome15] fr their dad will develop #AngelmanSyndrome, while someone who has only the version of the gene fr their mom will develop #PraderWilliSyndrome": https://buff.ly/3LSripi via @discovermag @theconversation.com #genes #genetics
Register for FREE for this event from ASGCT's Ethics Committee on Feb. 18!
🗓️ Register for FREE for this event from ASGCT's Ethics Committee on Feb. 18!
Join us next month for this virtual event moderated by Jodi Wolff, PhD + speakers Ryan Fischer (Foundation for #AngelmanSyndrome Therapeutics) and Andrew McFadyen (The Hospital for Sick Children). lnkd.in/gEKW_7U8
As we approach the end of 2024 my thoughts move towards ticking off the first challenge on my Bucket list, travelling to Tanzania with P.A. Jacob and Smiler and summiting Mount Meru in my wheelchair in September 2025
It’s so exciting 😁
#AngelmanSyndrome
#MelissasMeruChallenge
Dear Santa, The only gift I would really like is a voice of my own so I can sing along with my friends and my little Christmas pup🎄Thank you love Melissa xx
#AngelmanSyndrome
#MelissasSmileyChristmas
Melissa wearing a red xmas jumper and halo sitting in front of a Christmas tree
Oops I keep forgetting to post on here so …..
A hearty welcome to Day 8 of #MelissasSmileyChristmas and I hope a peaceful, restful day for all after the storm yesterday, sending kind thoughts and wishes x
#AngelmanSyndrome
#melissassmileychristmas
#AngelmanSyndrome Foundation in #India! angelmanfoundation.in
A great initiative to spread awareness, create a community of caregivers and prompt further research in India.
Super recent publication:
AAV vector-derived elements integrate into Cas9-generated double-strand breaks and disrupt gene transcription
#AngelmanSyndrome
doi.org/10.1016/j.ym...
It’s metamorphosis 😁
It’s a tough chair but it scrubs up well, all ready for my next adventure 🗻
#AngelmanSyndrome
#MelissasMeruChallenge