#raredisease — Public Fediverse posts

So much has gone into getting hold of this little cardboard box of pills; upending my life, moving countries, the endless tests. But then it will also mean a halt to the degeneration of my eyesight, hearing, heart, kidneys, and nervous system (and that's pretty great!) so I'm feeling a tad emotional looking at this little box. I can't believe I've actually got it.

Of course, it *is* ludicrously expensive (1 month supply costs $28,000 AUD, although I only pay 25 bucks. Public healthcare baby!)

I'm now something of a celebrity at the local Amcal for having the most expensive drug they dispense 🙂

#RareDisease

So much has gone into getting hold of this little cardboard box of pills; upending my life, moving countries, the endless tests. But then it will also mean a halt to the degeneration of my eyesight, hearing, heart, kidneys, and nervous system (and that's pretty great!) so I'm feeling a tad emotional looking at this little box. I can't believe I've actually got it.

Of course, it *is* ludicrously expensive (1 month supply costs $28,000 AUD, although I only pay 25 bucks. Public healthcare baby!)

I'm now something of a celebrity at the local Amcal for having the most expensive drug they dispense 🙂

#RareDisease

So much has gone into getting hold of this little cardboard box of pills; upending my life, moving countries, the endless tests. But then it will also mean a halt to the degeneration of my eyesight, hearing, heart, kidneys, and nervous system (and that's pretty great!) so I'm feeling a tad emotional looking at this little box. I can't believe I've actually got it.

Of course, it *is* ludicrously expensive (1 month supply costs $28,000 AUD, although I only pay 25 bucks. Public healthcare baby!)

I'm now something of a celebrity at the local Amcal for having the most expensive drug they dispense 🙂

#RareDisease

So much has gone into getting hold of this little cardboard box of pills; upending my life, moving countries, the endless tests. But then it will also mean a halt to the degeneration of my eyesight, hearing, heart, kidneys, and nervous system (and that's pretty great!) so I'm feeling a tad emotional looking at this little box. I can't believe I've actually got it.

Of course, it *is* ludicrously expensive (1 month supply costs $28,000 AUD, although I only pay 25 bucks. Public healthcare baby!)

I'm now something of a celebrity at the local Amcal for having the most expensive drug they dispense 🙂

#RareDisease

So much has gone into getting hold of this little cardboard box of pills; upending my life, moving countries, the endless tests. But then it will also mean a halt to the degeneration of my eyesight, hearing, heart, kidneys, and nervous system (and that's pretty great!) so I'm feeling a tad emotional looking at this little box. I can't believe I've actually got it.

Of course, it *is* ludicrously expensive (1 month supply costs $28,000 AUD, although I only pay 25 bucks. Public healthcare baby!)

I'm now something of a celebrity at the local Amcal for having the most expensive drug they dispense 🙂

#RareDisease

https://www.europesays.com/ie/681410/ Blood protein profiling could improve rare disease diagnosis #blood #Éire #ExomeSequencing #Gene #Genes #Genetic #GeneticInformation #Genome #Genomic #genomics #Healthcare #IE #Ireland #Laboratory #medicine #Protein #Proteomics #RareDisease #Research #Science

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/

Am 28.2. Ist #TagDerSeltenenErkrankungen Durch den auf #SelteneErkrankungen aufmerksam gemacht werden soll. Ich habe das #EhlersDanlosSyndrom das auch unter die seltenen Erkrankungen fällt. Mein Weg zur Diagnose war -Wie bei vielen Betroffenen sehr lang- #RareDisease #RareDiseaseDay

Very disappointing news on the Duchenne muscular dystrophy front. Elevidys, the only available gene therapy for DMD has shown no significant improvement in motor function in kids receiving the treatment after 1 year. However, certain secondary outcomes showed some benefit.

It remains to be seen if FDA will allow it to stay on the market in the US, given that there are no other available treatments for DMD.

https://www.ajmc.com/view/sarepta-joins-pfizer-in-dmd-gene-therapy-trial-failures

#Duchenne #musculardystrophy #raredisease #genetherapy #elevidys #biotech #pharma

📣 Just heard that the Cilia2024 conference is almost fully booked! 😊 :happy:

Hurry and grab the last on-site spots for the world's biggest cilia meeting in beautiful Dublin!

Last-minute industry sponsors are welcome!

Online participation in this hybrid meeting is, of course, not limited.

Webpage: https://cilia2024.ie/

#Cilia2024 #Ciliopathies #RareDisease #ADPKD #PCD #BBS #NPHP #Centrosome #Centriole #CellBiology #DevelopmentalBiology #Nephrology #Neurology #EMBO @cilia @cellbiology

Zum #TagderSeltenenErkrankungen möchte ich gern Duchenne-Deutschland (ehemals Benni & Co.) vorstellen. #Muskeldystrophie #Duchenne ist auch so eine Arschlochkrankheit, die man niemandem wünscht.
https://www.duchenne-deutschland.de/

#RareDiseaseDay #RareDisease #AusGruenden

Noch recht frisch im Wohnzimmer. Aber ich hab ja die Kuscheldecke und #Mauszeit. Heute geht es um #SelteneErkrankungen!
#SendungMitDerMaus #Spätschicht #Kika #RareDisease

Register now for the amazing hybrid centrosome conference in Istanbul, hosted by Elif Nur Firat-Karalar!

Sharing this announcement on the fediverse. Unsure if Elif has joined Mastodon yet…

Some of us might see this as the basal body meeting 😉

@cilia
#Centrosome2023
#cilia #centrosome #centriole #Embo #EmboWorkshop #Science #zilien #RareDisease #ScienceMastodon #Zentrosom #developmentalbiology #biology @nephrology #CellBiology #Ciliopathy

@BazziLab

Hisham, welcome to #ScienceMastodon! :happy:

Great to see more and more faces from Cologne here! :koeln: :dom:

#centrosome #cilia #hedgehog #raredisease #dermatology #cecad #uniklinikköln

@cilia

📣📣📣
Okay, here it is, the #Cilia group:

@cilia

My first attempt didn't work, most likely because of the "&" within the former group-name.

The way I understand this: everyone can now follow this group. If the group is mentioned in a post " @cilia ", this is shared with everyone in the group.

Deeply sorry that the name is now only "cilia" - it is meant for maximum inclusion!!!

It should include everyone:
#raredisease #ciliopathies #centrosome #centriole #devbiol

Please join!!! 🙂🙂🙂

#HelloMstdn

Hello fellow Mastodons!

I'm a graduate student amazed by the entanglement of intuition, imagination and science! 😁 I work on #cilia #centrosome dynamics in the #skeletal #muscle at Jyotsna Dhawan's lab at CSIR-CCMB, India.

In support of #raredisease research and communities.