Groundbreaking geneticist Huda Yahya Zoghbi, MD, recently visited Feinberg to give a lecture about her work on #RettSyndrome and other neurological disorders.

https://t.co/hyXA2KVxT4

Happy #MedicineMonday! The #FDA just approved the first treatment for #RettSyndrome, a rare, genetic, neurological disorder affecting brain development. This condition affects about 1:10,000 females, males to a far rarer extent and leads to a loss of language and motor skills developed earlier in life.

The medication Daybue (trofinetide) is for people 2 or older, delivered orally or via gastrostomy tube.

#DrugDevelopment #RareDisease

RT @MarilenaMelas
Always excited to see new therapies for genetic disorders uncurable till now! This adds more value to the #geneticdiagnosis! 💪🧬#GeneticSyndromes #MedicalGenetics #rettsyndrome https://www.rettsyndrome.org/trofinetideapproved/

This is a beautiful piece of writing from Catriona Moore https://makingchromosomescount.co.uk/2022/11/14/just-the-way-she-is-rett-syndrome/

Shifting from doing to being - solid way for all of us to live by IMO

"Slowing down to make the world work better for Amy has made it work better for me too. I love her company and her reactions to things, and the way she lights up when something really delights her. She has shown me the value of simply being here, together".

#RettSyndrome #LearningDisability

I'm putting my daughter to bed for the last time as a 22 year old. Every year she ages, she gets farther past the life expectancy of 17 that was on the pamphlet the neurogist gave me the day she was diagnosed with #rettsyndrome. If I had 2 million characters, I still couldn't put into words how that haunts me. Let's try and get a few more trips round the sun, kid.