#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

Veranstaltungstechnik und -orga bei der Familienkonferenz des Vereins "Hand in Hand gegen Tay-Sachs, Sandhoff und GM1" für den deutschsprachigen Raum (und darüber hinaus). In diesem Jahr feiert der Verein sein Zehnjähriges.

https://tay-sachs-sandhoff.de/2025/09/04/grosse-familienkonferenz-zum-zehnjaehrigen-bestehen/

#SelteneErkrankung #RareDisease #Selbsthilfegruppe #TaySachs #MorbusSandhoff #GM1 #Würzburg

Ugh, my face started hurting after taking my sister's trash out 😭 late fall & winter is always so hard cuz cold air is my biggest trigger. I was only outside for like 45 seconds too.

#TrigeminalNeuralgia #RareDisease #NEISvoid

Familienkonferenz #TaySachs, #Sandhoff und #GM1 für den deutschsprachigen Raum. Emotionale Achterbahnfahrt, tonnenweise Infos, Austausch von Betroffenen und Familien. Und ich darf Technik machen.
https://tay-sachs-sandhoff.de/
#SelteneKrankheiten #RareDisease #TaySachsSandhoff #Selbsthilfegruppe #Würzburg

📣 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

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

Zum Tag der seltenen Erkrankungen sei auf die Podcast-Folge "Seltene Erkrankungen - zwischen Einsamkeit und geschenktem Glück" im Würzblog-Podcast hingewiesen, die vor drei Jahren aufgenommen wurde. Wie eine Familie mit der seltenen Erkrankung ihres Kinds lebt.
https://wuerzblog.de/2020/03/04/wuepod065-seltene-erkrankungen-zwischen-einsamkeit-und-geschenktem-glueck/
#SelteneErkrankung #RareDisease #RareDiseaseDay #Podacst #WüPod #TaySachs #Sandhoff

@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.