Seven members of a UC Davis research team stand together outdoors on campus in front of a building and a landscaped garden area.
Advancing research for the fragile X community at UC Davis!
Dr. Randi Hagerman and her team at the MIND Institute are leading clinical research on fragile X–related disorders, supported by a longstanding CTSC partnership.
#TranslationalScience #CTSC #FragileX
🔄 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
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/...
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
Kids are home! I love our kid free time, but man I miss the buggers.
Let the chaos resume!
#parenting #autism #downsydrome #fragilex
My annual reminder that I have surrounded myself with compassionate, thoughtful, caring, first class people throughout my life.
#autism #fraxa #fragilex #charity
📢 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
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...
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 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 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
