mymedschoolMar 26

🔄 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

https://mymedschool.org/portfolio/u01-01-063-trinucleotide-repeat-expansion-diseases/?utm_source=mastodon&utm_medium=jetpack_social

U01.01.063 Trinucleotide Repeat Expansion Diseases MCQs: Huntington, Fragile X & Friedreich Ataxia

Master the molecular genetics and clinical presentation of dynamic mutations with our U01.01.063 Trinucleotide Repeat Expansion Diseases question set. This high-yield MCQ collection covers the mechanisms of genetic anticipation, slippage during DNA replication, and the specific repeat sequences for Huntington Disease (CAG), Fragile X (CGG), Myotonic Dystrophy (CTG), and Friedreich Ataxia (GAA). Designed for medical students, these free medical questions on mymedschool.org provide essential preparation for USMLE Step 1 and neurology assessments.

mymedschool.org
Saba SalmanJul 6, 2023

An intro for anyone new here:

Hi!

I'm a journalist, author and editor.
My book Made Possible is influenced by my sister Raana (pictured!): an anthology on success, by people with learning disabilities: SUCCESS!
I chair Sibs, the charity for people who've grown up with disabled brothers/sisters. I’m an ambassador for the non-profit National Development Team for Inclusion.

#LearningDisability #fragilex #autism #diversity #equality #inclusion #humanrights #carer #siblings
http://sabasalman.com

Kelli 🐝🍄🍀🌈🍸🩵Jun 9, 2023
It didn’t occur to me until recently that i am the mother of some deeply neurodivergent teenagers. Picking out their very particular foods, exact clothing qualifications, getting the right meds into the right kid….. it’s not “normal” and it’s not easy. And i need to be nicer to myself as the mama. #neurodivergent #autism #FragileX #SpecialNeeds #LGBTQ #2020
Kelli 🐝🍄🍀🌈🍸🩵Apr 18, 2023
https://fragilexnewstoday.com/news/trial-psilocybin-microdose-therapy-fragile-x-cleared-canada/ Very cool. #science #fragilex #psilocybin
Trial of psilocybin microdose therapy in fragile X cleared in...

The Canadian government has cleared KGK Science's Phase 2a trial testing NM-1001, a psilocybin microdose therapy, in fragile X syndrome.

Fragile X News Today
Saba SalmanApr 12, 2023

Sharing this shot for the recent National Siblings Day: me on the right, with my sister Raana.

We were debating the merits of coffee and, typically, whether I’d get her another!

The sibling experience is unique - tricky, fun and everything inbetween.

The UK charity Sibs supports siblings and the unique relationship they have with their disabled brothers or sisters. Sibs knows this role needs to be recognised.

More: https://www.sibs.org.uk

#NationalSiblingsDay2023 #SiblingStrengths #fragilex

Sibs - for brothers and sisters

Sibs is the UK charity for people who grow up with a disabled brother or sister.

Sibs
PLOS BiologyJan 27, 2023
The RNA-binding protein #FMRP binds the Csw/SHP2 transcript, in turn regulating presynaptic MAPK/ERK signaling & #neurotransmission. This mechanistically links two cognitive disorders; #NoonanSyndrome & #FragileX syndrome #PLOSBiology https://plos.io/3JjpqG0
FMRP activity and control of Csw/SHP2 translation regulate MAPK-dependent synaptic transmission

This study shows that the RNA-binding protein FMRP binds the Csw/SHP2 transcript, which in turn regulates presynaptic MAPK/ERK signaling and neurotransmission. This mechanistically links previously two previously unconnected cognitive disorders, Noonan syndrome and Fragile X syndrome.

PLOS BiologyJan 27, 2023
The RNA-binding protein #FMRP binds the Csw/SHP2 transcript, in turn regulating presynaptic MAPK/ERK signaling & #neurotransmission. This mechanistically links two cognitive disorders; #NoonanSyndrome & #FragileX syndrome #PLOSBiology https://plos.io/3JjpqG0
FMRP activity and control of Csw/SHP2 translation regulate MAPK-dependent synaptic transmission

This study shows that the RNA-binding protein FMRP binds the Csw/SHP2 transcript, which in turn regulates presynaptic MAPK/ERK signaling and neurotransmission. This mechanistically links previously two previously unconnected cognitive disorders, Noonan syndrome and Fragile X syndrome.

PLOS BiologyJan 27, 2023
The RNA-binding protein #FMRP binds the Csw/SHP2 transcript, in turn regulating presynaptic MAPK/ERK signaling & #neurotransmission. This mechanistically links two cognitive disorders; #NoonanSyndrome & #FragileX syndrome #PLOSBiology https://plos.io/3JjpqG0
FMRP activity and control of Csw/SHP2 translation regulate MAPK-dependent synaptic transmission

This study shows that the RNA-binding protein FMRP binds the Csw/SHP2 transcript, which in turn regulates presynaptic MAPK/ERK signaling and neurotransmission. This mechanistically links previously two previously unconnected cognitive disorders, Noonan syndrome and Fragile X syndrome.

Show threadSue Fletcher-WatsonJan 20, 2023

...this one led by @[email protected] with @[email protected] on building supportive communities for people with #RareSyndromes like #fragilex #syngap and #WilliamsSyndrome

And you'll have the first chance to see the neurodivergent stories - submit yours here: https://docs.google.com/document/d/1Nnl0JsX37m8lukyPqiBkYiUIYir1h0aR/edit

ITAKOM call for stories v2.docx

[click here for an audio recording of this document and then scroll to the bottom of this page for the submission link] Call for Stories The It Takes All Kinds Of Minds (ITAKOM, for short) conference is looking for stories from real life to be shared during the conference. You can submit a s...

Google Docs
Saba SalmanJan 1, 2023

Hello 2023.

The traditional focus on the new at this time of year isn't always ideal.

Continuity, familiarity and routine - at a gentle pace - are as valuable.

My family got back to a familiar festive routine after Covid/lockdowns forced a break..a gentle stroll along the seafront.

Here's a collaborative selfie by my sister Raana (I held the camera, she pressed the button).

Hope 2023 is kind and treats everyone well.

#family #newyear #siblings #sisters #learningdisability #fragilex