Clearly, there is still much to learn about this corner of the dark genome defined by HEATR5 proteins and their co-factors.

#Biorxiv #Preprint #MembraneTraffic #DarkGenome #DarkProteome #RareDisease #AlphaFold #AlphaFold2 #ProteinPrediction #Golgi #Clathrin #CellBiology #biochemistry #Bioscience

Registration now open for our 1st NMGN Congenital Anomalies
Cardiovascular Geneboree: From Cardiac Gene Variant to Mouse Model 🗓️ Nov 23-34, 2023🗓️ MRC Harwell Advanced Training Centre, UK (or online)! ❤️ 🧬 🐁 #RareDisease #CongenitalAnomalies #CHD #DiseaseModels #HumanGenetics Register: https://www.eventbrite.co.uk/e/congenital-anomalies-cardiovascular-geneboree-gene-variant-to-mouse-model-tickets-707821602467?aff=oddtdtcreator A workshop for #clinicians, #ClinicalGeneticists & #DevBiologists with an interest in finding new genes for #CHD & validating them in models. We are grateful to #BHF for support. Join us!

I'm thinking about #PKU supplements, our special drink, medicine... What ever you call it!

I'm changing to a new type & wondering what affects your choice of supplement. Is it just the taste, or how easy it is to get, to take, to carry, etc.?

#LivingWithPKU #LowProtein #RareDisease #PKUProblems #Phenylketonuria

Deeply disappointed that the Government is scrapping all remaining COVID-19 restrictions while Pharmac *is still* in the process of deciding whether to widen the criteria for COVID-19 antivirals.

Access criteria for COVID-19 antivirals exclude many people who would be vulnerable to severe illness from COVID-19, including many in the rare disorder community. Why Pharmac and the government will not coordinate on this issue I can't understand.

https://www.raredisorders.org.nz/about-us/news/covid-19-restrictions-lifted-too-soon-says-rare-disorders-nz/

#RareDisease #covid

📣 Thrilled to share: Lioba and Inês' study on NUPs and the 🦛 effectors YAP/TAZ is now live at HMG - adding another puzzle piece to the role of YAP/TAZ in FSGS.

Congrats and a huge THANKS to the entire team for the fantastic work. 🙌🔬

https://academic.oup.com/hmg/advance-article-abstract/doi/10.1093/hmg/ddad135/7241341?utm_source=advanceaccess&utm_campaign=hmg&utm_medium=email

#Research #Science #Podocyte #FSGS #RareDisease #Kidney #Nephrology #Genetics #openaccess

Submit your research to our #RareDisease Special Issue by Monday 6 November!

This upcoming special issue is driven by a team of expert editors: Monica Justice #SickKidsToronoto, Monkol Lek #YaleSchoolofMedicine, Karen Liu #KingsCollegeLondon & Kate Rauen #UCDavisHealth

🎉https://journals.biologists.com/dmm/pages/rare-disease
#OpenAccess

Most people think of genetic #RareDiseases diseases as congenital severe syndromes. While more prevalent in children, many adults with late onset genetic conditions walk around unaware that they have a #RareDisease. Unexplained changes in behavior are major red flags 🚩🚩for #FTD #Huntington or #Alzheimer , often dismissed by people and resulting in major life changes and relationships loss.

The Vanishing Family https://www.nytimes.com/2023/07/20/magazine/family-genetics-frontotemporal-dementia.html

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

Guillain-Barré Syndrome: Health emergency declared in Peru

https://en.mercopress.com/2023/07/10/guillain-barre-syndrome-health-emergency-declared-in-peru

Peruvian authorities Saturday declared a 90-day nationwide sanitary emergency due to the “unusual increase” in cases of Guillain-Barré Syndrome, it was reported in Lima. As per President Dina Booluarte's decree, some US$ 3.27 million will be allocated to improving patient care, reinforcing control on the number of detections, and drafting reports for the population and health personnel.

#epidemic #raredisease #GBS #guillainbarresyndrome #investigation #nationalemergency

🚂 Traveling back to :dom: after intense discussions on primary cilia and ciliopathies - in close proximity to the 'mother of all cilia' 😉

A huge THANK YOU to Sophie Saunier, Alexandre Benmerah & colleagues for organizing this fantastic workshop and meeting.

@cilia #Cilia #Ciliopathies #RareDisease

Met Gavin O’Donnell, the new chair of @PKU_Ireland, today to discuss the #pharmastrategy and how we can better address unmet medical needs for people living with a #RareDisease https://t.co/HLV1sUBHVP

🐦🔗: https://n.respublicae.eu/BillyKelleherEU/status/1674010476349386752

A small group of us have been writing poetry, as part of a university project, to explore our lives living with our children who have rare genetic conditions or remain undiagnosed.
#poetry #poetrycommunity #rare #raredisease #carer #disabled #swan

These poems are set to be published soon, but if anyone would like to listen to a small sample of our collection then you can tune into West Wiltshire Radio this Sunday at 3pm, link here... (shares appreciated x)
https://westwiltsradio.com/

Not dead. Just resting. Have announcements soon though! #writerscommunity #writing #writingcommunity #sff #thriller #poetry #poetry #disability #disabled #rare #raredisease #ctbp1

🎉 We are launching our 2024 Special Issue on #RareDisease 🎉

This is driven by a team of expert editors - Monica Justice , Monkol Lek , Karen Liu & Kate Rauen - and will include breakthrough #translational science

Submit your Rare Disease research now!

https://journals.biologists.com/dmm/pages/rare-disease
#OpenAccess

To be fair #vasculitis is a #rareDisease. My own primary cerebral vasculitis form is about 1 case per million people. But in a crisis, and especially out of hours, patients should be able to get urgent and appropriate help. And not be dismissed as hypochondriacs and sent away too readily without help. Timely treatment is vital to save organs from further damage. But too often getting that help is hard. #NHS #hospitals

Myasthenia Gravis is a #raredisease and today marks the 1st EU #MGAwarenessDay🇪🇺

Thanks to the impressive #VirtualReality stand, I was able to experience first-hand some symptoms of #MG & its impact on the daily lives patients.

Thanks @istvan_ujhelyi & @TomislavSokol👏

🐦🔗: https://n.respublicae.eu/SeanKellyMEP/status/1664218504940208128

#Exomiser ranks potential rare Mendelian disease-causing #variants from whole-exome or whole-genome sequencing data. Learn more here: https://youtu.be/tzwvWkb3s8A

#RareDisease #OpenScience #BigData #Collaborative #TranslationalScience #Disease #Genomics #Healthcare

@humantechnopole @Nature@mstdn.social @nature@sciencemastodon.com @Nature@press.coop

What would life be without trains?! 😉

Fantastic work!

@cilia #Cilia #RareDisease

Just a friendly reminder- ⏱️ONE WEEK⏱️left to apply for our MRC National Mouse Genetics Network funded 3yr postdoc as part of our Congenital Anomalies cluster developing #DiseaseModels for #RareDisease #Ciliopathies for #DiseaseMechanisms & #GeneticTherapies!

Be part of our team: could you be that talented, curious and collaborative colleague we are looking for: 👉https://elxw.fa.em3.oraclecloud.com/hcmUI/CandidateExperience/en/sites/CX_1001/job/7216

Closes: 24/05/2023

Reach out to discuss more! Boosts welcome!

RT @Primary_Immune
A tour-de-force 🆕 review
on Autoimmunity in Inborn Errors of Immunity
https://www.sciencedirect.com/science/article/abs/pii/S2213219823004580 #bioinformatics #openscience #raredisease #itrtg #immunology