MCDuncanLab · @MCDuncanLab
250 followers · 1613 posts · Server mstdn.social
Mill_lab · @Mill_lab
548 followers · 492 posts · Server mstdn.social

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)! ❤️ 🧬 🐁 Register: eventbrite.co.uk/e/congenital- A workshop for , & with an interest in finding new genes for & validating them in models. We are grateful to for support. Join us!

#bhf #devbiologists #clinicalgeneticists #Clinicians #humangenetics #diseasemodels #CHD #congenitalanomalies #raredisease

Last updated 1 year ago

poconnor · @poconnor
21 followers · 262 posts · Server pkutalk.com

I'm thinking about 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.?

#pku #livingwithpku #lowprotein #raredisease #pkuproblems #phenylketonuria

Last updated 1 year ago

Kōtare · @jdmcg
200 followers · 794 posts · Server mastodon.nz

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.

raredisorders.org.nz/about-us/

#raredisease #covid

Last updated 1 year ago

Bernhard Schermer · @cilib
597 followers · 802 posts · Server social.cologne

📣 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. 🙌🔬

academic.oup.com/hmg/advance-a

#Research #science #podocyte #FSGS #raredisease #kidney #Nephrology #genetics #openaccess

Last updated 1 year ago

DMM Journal · @DMM_Journal
341 followers · 10 posts · Server biologists.social

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

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

🎉journals.biologists.com/dmm/pa

#raredisease #sickkidstoronoto #yaleschoolofmedicine #kingscollegelondon #ucdavishealth #openaccess

Last updated 1 year ago

Claudia Gonzaga-Jauregui 🧬 · @cgonzagaj
179 followers · 121 posts · Server genomic.social

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

The Vanishing Family nytimes.com/2023/07/20/magazin

#RareDiseases #raredisease #FTD #huntington #Alzheimer

Last updated 1 year ago

Bernhard Schermer · @cilib
591 followers · 789 posts · Server social.cologne

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

@nephrology

#centrosome2023 #Cilia #centrosome #Centriole #embo #emboworkshop #science #zilien #raredisease #ScienceMastodon #zentrosom #developmentalbiology #biology #cellbiology #ciliopathy

Last updated 1 year ago

OccuWorld · @OccuWorld
41 followers · 399 posts · Server kolektiva.social

Guillain-Barré Syndrome: Health emergency declared in Peru

en.mercopress.com/2023/07/10/g

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

Last updated 1 year ago

Bernhard Schermer · @cilib
582 followers · 785 posts · Server social.cologne

🚂 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

Last updated 1 year ago

Billy Kelleher MEP · @BillyKelleherEU
17 followers · 1921 posts · Server respublicae.eu

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

🐦🔗: n.respublicae.eu/BillyKelleher

#pharmastrategy #raredisease

Last updated 1 year ago

Paul L. Arvidson · @realarvo
247 followers · 379 posts · Server wandering.shop

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.

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)
westwiltsradio.com/

#poetry #poetrycommunity #rare #raredisease #carer #disabled #swan

Last updated 1 year ago

Paul L. Arvidson · @realarvo
245 followers · 378 posts · Server wandering.shop
DMM Journal · @DMM_Journal
289 followers · 60 posts · Server mstdn.science

🎉 We are launching our 2024 Special Issue on 🎉

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

Submit your Rare Disease research now!

journals.biologists.com/dmm/pa

#raredisease #translational #openaccess

Last updated 1 year ago

Vivienne Dunstan · @vivdunstan
799 followers · 1116 posts · Server mastodon.scot

To be fair is a . 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.

#hospitals #nhs #raredisease #vasculitis

Last updated 1 year ago

Seán Kelly MEP · @SeanKellyMEP
22 followers · 1709 posts · Server respublicae.eu

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

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

Thanks @istvan_ujhelyi & @TomislavSokol👏

🐦🔗: n.respublicae.eu/SeanKellyMEP/

#raredisease #MGAwarenessDay #virtualreality #mg

Last updated 1 year ago

Bernhard Schermer · @cilib
571 followers · 780 posts · Server social.cologne

#Cilia #raredisease

Last updated 1 year ago

Mill_lab · @Mill_lab
548 followers · 492 posts · Server mstdn.social

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 for for & !

Be part of our team: could you be that talented, curious and collaborative colleague we are looking for: 👉elxw.fa.em3.oraclecloud.com/hc

Closes: 24/05/2023

Reach out to discuss more! Boosts welcome!

#genetictherapies #diseasemechanisms #ciliopathies #raredisease #diseasemodels

Last updated 1 year ago