U01.01.063 Trinucleotide repeat expansion diseases Test your clinical knowledge of U01.01.063 Trinucleotide Repeat Expansion Diseases. Practice identifying repeat sequences, inheritance patterns, and the phenomenon of anticipation with this expert-curated MCQ set.

🔄 The Growing Mutation: Master the Trinucleotide Repeats! 🔄

Trinucleotide repeat expansion disorders are unique because the mutation "grows" as it is passed from one generation to the next.
#USMLEStep1 #MedEd #MedicalStudent #Genetics #Step1Prep #HighYield #MedSchool #HuntingtonDisease #FragileX

500 litres of kerosene cost us £322 in late December. 500 litres last week cost us £773. With two disabled young people in the house we need to keep it warm. #autism #FragileX #epilepsy

Our heating oil provider's website has crashed. We probably have enough to last until next month but T needs to keep warm and we can't have free-standing heaters as he has no awareness of danger. #FragileX #epilepsy

A screenshot of "Continue watching" list from iPlayer. The Celebrity Traitors, In The Night Garden, Postman Pat, Baby Jake, Alphablocks, Raa Raa the Noisy Lion, Hey Duggee, The Traitors.

Can you tell who's watching which programme? E or T? #autism #FragileX

Their Mutated Genes Were Supposed to Be Harmless “Carriers” of certain genetic diseases, who have just one affected gene, can have symptoms too.

Because of #fragileX premutation phenotypes such as FXPOI and FXTAS, we are familiar with the idea that “carriers” for some genetic conditions can have symptoms too. @roxannek.bsky.social explores the biological breadth of this phenomenon in The Atlantic. www.theatlantic.com/health/2026/...

Donate to Stockholm Marathon 2026!, organized by Mariana Edward I am running the Stockholm marathon on the 30th of May, in support of the Fragile X Society! … Mariana Edward needs your support for Stockholm Marathon 2026!

#FragileX always a family cause, happy to share
www.gofundme.com/f/stockholm-...

My 14-year-old son (he has #FragileX and #Autism) decided to tuck out Great Dane in for a little nap today, even gave her his Mr. Bear.

#greatdane #danelife #dog #autismsky

A terracotta pot (coil-built) with black, brown, white and orange glaze. There are black musical notes painted on it.

A lovely start to the new series of @potterythrow.bsky.social. To mark its return, here's E's latest creation - a coil-built terracotta pot to hold the hammers used to play sounding bowls. #autism #FragileX

Part 6:
CDC Autism and Fragile X opportunity (CDC RFA DD 26 0025), “resources and opportunities… across the lifespan.” Application period expected to begin Feb 2026. Estimated post Feb 24, due Apr 24. #CDC #Autism #FragileX #Disability #FederalGrants

a blue and brown cartoon dog is holding a baby in a sandbox ALT: a blue and brown cartoon dog is holding a baby in a sandbox

Kids are home! I love our kid free time, but man I miss the buggers.

Let the chaos resume!

#parenting #autism #downsydrome #fragilex

Callum Cup IX Brings Community Together, Raising $20,000 for Fragile X Research Callum Cup IX brought the Millburn FC community together, raising $20,000 for the FRAXA Research Foundation in support of Fragile X research.

My annual reminder that I have surrounded myself with compassionate, thoughtful, caring, first class people throughout my life.
#autism #fraxa #fragilex #charity

A missense variant in the KH0-domain of FMRP downregulates the protein in a patient with the clinical hallmarks of fragile X syndrome - European Journal of Human Genetics European Journal of Human Genetics - A missense variant in the KH0-domain of FMRP downregulates the protein in a patient with the clinical hallmarks of fragile X syndrome

📢 Fragile X without the repeat expansion? 🧬
A rare FMR1 missense variant (p.Gln167Pro) may cause #FragileX features. ⬇️

www.nature.com/articles/s41...

I see Leadbeater is having a go at the Lords for tabling amendments to her Bill. She's called some of those amendments "cruel". Perhaps if the Bill weren't so appallingly drafted and if disabled people hadn't been excluded from the process things would be different. #autism #FragileX #epilepsy

Yesterday Elizabeth Berry-Kravis was at Emory giving a talk about #fragilex #angelman #rett syndrome therapeutics -- the mind-blowing part was videos of children before + after ASO treatment -- example (from earlier this year) youtu.be/Xo5zsRsHDCY?...

We are looking forward to hear Elizabeth Berry-Kravis, leading #fragilex clinician and researcher today #neuroscience #clinicaltrials #autism

Make Your Giving Tuesday Matching Gift Now Make 2x the difference today! This Giving Tuesday we are thrilled to announce a very exciting challenge, but we need your help to make it happen!

If you’re thinking of donating today on Giving Tuesday, FRAXA & their ongoing mission to find a cure for Fragile X is a worthy cause & all donations get matched today! #Autism #FragileX www.fraxa.org/givingtuesday/

Utterly brilliant thread on carers & sleep (or lack of). Hypervigilance is utterly exhausting -it's no wonder some carers experience higher levels of stress than combat troops. The long-term health impacts are terrifying yet we're just told to "make time for yourself". #FragileX #epilepsy #autism

Elizabeth Berry-Kravis will be our 2025 Warren Distinguished Lecturer on December 4 -- Especially appropriate b/c EBK is leading clinician studying #fragilex syndrome

When it comes down to it, people with LD are seen as less worthy of treatment than their neuro-typical peers. DNRs being slapped on any other group in society would provoke outrage. #autism #FragileX #epilepsy

www.itv.com/news/2025-11...

Come again? Another day, another inquest. George Julian in court in Croydon. Her commitment to shedding light on the horrors embedded within our health and social care systems is extraordinary. This week, it’s…

Another life lost in a "care" home. And people wonder why we don't consider a residential placement for T. #FragileX #epilepsy

mydaftlife.com/2025/11/11/c...

Love creating soccer jerseys for our annual charity soccer match. This year, it’s Scotland vs 1950s USA. #FragileX #FRAXA #CallumCupIX

Today is International #FragileX Awareness Day. Here's a thread a wrote a while ago about how it affects our family.

#LegacyContent: Strategic Implementation of #FragileX Carrier Screening in China: A Focused Pilot Study.

Free in the #OpenArchive: www.jmdjournal.org/article/S1525-1578(24)00...

A grey-y/cream bowl with the imprint of a large leaf in it. The leaf shape has a blue glaze.

T has made (with help, obvs) the most beautiful bowl at college. I adore that you can see his fingerprints on it where he's moulded it. #FragileX #epilepsy

A photo of a clay and twig hedgehog. The caption says "T made a beautiful clay and stick hedgehog in his nature studies session...he stripped the leaved off branches before helping snip them into lengths with secateurs. He then used the snipped twigs to make his hedgehog"

T's hedgehog made last Winter. #FragileX #SundayPixPerfection

Servier bets $450m on Fragile X syndrome drug Servier has pushed its emerging neurology pipeline into the clinical trials stage by licensing a drug for Fragile X syndrome from the UK's Kaerus.

#Servier has advanced its emerging #neurology pipeline into the clinical trials stage by #licensing a drug for the rare genetic disorder #FragileX syndrome (FXS) from UK biotech #KaerusBioscience.

pharmaphorum.com/news/servier...

Fragile X Syndrome and Speech Apraxia: Unpacking the Connection Fragile X syndrome is the most common cause of inherited learning disability and a leading single-gene cause of autism. Expressive language difficulties are almost universal, but recent research shows...

Fragile X is the most common inherited cause of learning disability & autism and speech apraxia is often part of the picture. Disrupted brain connectivity affects speech planning, leading to expressive language challenges. #autism #cas #speech #FragileX #Apraxia speechapraxia.co.uk/about-sauk/f...

I started making my breakfast (toast and marmalade) at 9. I've just managed to eat it. Cold, obvs. Caring is fun. #FragileX #autism #epilepsy

A deep blue sky above with wispy moonlit clouds and a full moon. Below, a pale blue/grey sea with the moon reflected in it. To either side of the horizon are yellow hills - based on those framing the view from the cottage we go to.

E's felted night scene with the moon shining on the sea. Based on the view from the cottage which we go to on our hols. #SundayPixCoast #autism #FragileX

A screenshot from the easy read report of The Hat's evidence. People with LD "more likely to go to hospital with COVID, LESS LIKELY TO GET TREATMENT WHEN THEY WERE IN HOSPITAL, much more likely to die from COVID than people without LD".

A screenshot from the easy read report of The Hat's evidence. People with LD "more likely to go to hospital with COVID, LESS LIKELY TO GET TREATMENT WHEN THEY WERE IN HOSPITAL, much more likely to die from COVID than people without LD".

From Prof Chris Hatton's evidence to the COVID 19 Public Inquiry focussing on the impact on people with Learning Disabilities. Screenshots from the Easy Read version and a photo of the whiteboard at No 10 saying "Who do we not save?" #autism #FragileX