Rare BMAL1 variants reveal hidden genetic links to neurodevelopmental disorders! Unraveling brain mysteries one gene at a time. 
#Genomics #Neuroscience #RareDisease https://emmecola.github.io/genomics-daily
Child walks again after experimental treatment for genetic condition
In what experts are calling a “dream come true,” scientists used a recent biochemical discovery to help an…
#NewsBeep #News #Genetics #AU #Australia #Neuroscience #raredisease #research #Science
https://www.newsbeep.com/au/5560/
Patient dies in Sarepta gene therapy trial, adding to safety concerns
A 51-year-old man died last month after receiving an experimental gene therapy developed by Sarepta Therapeutics for an…
#NewsBeep #News #Topstories #Biotechnology #drugdevelopment #Headlines #raredisease #STAT+ #TopStories
https://www.newsbeep.com/4463/
UConn, Connecticut Children’s trial gene-editing for rare disease
Julieta Bonvin Sallago is constantly plagued by the worry that she will not wake up in the middle…
#NewsBeep #News #Genetics #AU #Australia #clinicaltrial #connecticut #connecticutchildrens #cornstarch #courant #CRISPR #ctnews #geneediting #glycogenstorage #gsd1a #localnews #raredisease #research #Science #study #treatment #uconn #universityofconnecticut
https://www.newsbeep.com/au/1541/
July 2025 WikiPathways release: 531 edits by 15 contributors and 2 new pathways.
An apple a day won't keep the doctors away, but being a too-mysterious-to-figure-out patient might do the trick.
I'm writing a horror novel called "My Doctor Had To Google My Rare Disease And Now I'm Dead"
#Raredisease research boost for lysosomal scientists backed by Chiesi [Advocacy Lab Content] https://www.euractiv.com/section/health-consumers/news/rare-disease-research-boost-for-lysosomal-scientists-backed-by-chiesi/?utm_source=dlvr.it&utm_medium=mastodon
https://www.europesays.com/us/52622/ Child walks again after experimental treatment for genetic condition #Genetics #Health #Neuroscience #RareDisease #research #UnitedStates #UnitedStates #US
DATE: July 08, 2025 at 05:30PM
SOURCE: BioWorld MedTech
Direct article link at end of text block below.
UK industry encourages renewal of #raredisease framework
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Articles can be found by scrolling down the page at https://www.bioworld.com/topics/85-bioworld-medtech .
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One Man. 10 Days. An epic challenge.
At 7am on 28 July, PKU dad Ian Spriggs will jog out of the car park at Southmead Hospital, Bristol and point his battered trainers north.
Ten days, 110-ish hours of foot‑time, and roughly 370 miles later, he hopes to trot through the doors of the Royal Victoria Infirmary, Newcastle, the hospital that has supported his daughter Molly since birth.
Please support Ian’s quest!
https://www.pigpen.page/bristol-to-newcastle-2025/
Pipeline release! nf-core/raredisease v2.6.0 - 2.6.0 - Cacofonix!
Please see the changelog: https://github.com/nf-core/raredisease/releases/tag/2.6.0
I wish more people knew about the use of food restrictions as a medical treatment.
Many see the word 'diet' or food restrictions as a lifestyle choice, to be ignored or dismissed.
In truth, many medical conditions are treated through the use of food restrictions.
You never know what someone else is dealing with, but you can choose how you react to their requests.
What do you wish people knew more about?
Just released my new PKU books. An ABC reader and a colouring book 
- Designed especially for children with Phenylketonuria
- Full of foods which are considered protein-free for PKU in the UK,
- and have been checked by PKU clinicians.
Let me know what you think, or grab your copy here:
Just emailed to PigPen Subscribers. It is free to join, and you get a free book!
https://www.pigpen.page/june-2025/
News and views from the world of rare disease. This month:
exciting news on future rare disease treatments; a look at the revision of the ESPKU Guidelines on PKU (plus, a primer on what they are!) Recipe of the month: Low-Protein Waldorf salad
Catch up on our LinkedIn Live! And much more
I was at a conference today run by a support group of a particularly rare disorder, and while I was standing at the front outlining current advocacy efforts and discussing engagement with David Seymour (Assoc. Min of Health with responsibility for Pharmac) someone piped up with "Don't you just love him?"
To which my answer was, "No."
I then politely moved on to the next topic of discussion.
Catch up on this great discussion about creativity and rare disease.
Rare Creatives’ Lives: Storytellers on Rare Disease In the Arts, delving into:
1. Who first inspired them to become creatives?
2. What are their creative processes like now?
3. How their storytelling shares rare disease lived experience?
4. Advice for those who dream of a creative career?
5. Why storytellers can spark advocacy in a rare disease community?
Fun chatting with this inspiring creative panel for "Rare Creatives' Lives: Storytellers on Rare Disease in the Arts" - now up on Youtube here 
: https://www.youtube.com/watch?v=miuzmwNEGHs #Health #PKUAwareness #PKU #RareDIsease #Bookstodon Have a look and share with a friend to spark your art
... and maybe even activism!
https://www.alojapan.com/?p=1282245 Man In Japan Diagnosed With Rare Dropped Head Syndrome After Excessive Smartphone Use: Doctor Issues Warning #CellPhoneSideEffects #DroppedHeadSyndrome #Japan #JapanMan #JapanNews #news #RareDisease #RareHealthCondition #SmartphoneSideEffects A 25-year-old man in Japan was diagnosed with rare ‘Dropped Head Syndrome’ after excessive smartphone use. Doctors warn youth about tech neck and posture damage. Man In Japan Diagnosed With Rare ‘Dropped…
