poconnor, to Futurology
@poconnor@pkutalk.com avatar

ICYMI: The June newsletter from PigPen 🐷🖋️ went out last week.

➡️ Why bother registering even if you don't intend to vote

➡️ Reports from the

➡️ Help out with

➡️ Update on

https://buff.ly/4bIm6jg

poconnor, to Bulgaria
@poconnor@pkutalk.com avatar

Next report from the held May 2024, a juicy update on the review of the Guidelines for

This session touched on , , , recommendations, the of PKU, and much more!

https://buff.ly/4byUGfD

poconnor, to random
@poconnor@pkutalk.com avatar

Update on future for

From the NSPKU conference held May 2024 here are my notes from the sessions on , , , solute carrier 6, and oral options for /

https://buff.ly/4awqcJP

cilib, to bbs
@cilib@social.cologne avatar
poconnor, to random
@poconnor@pkutalk.com avatar

Good morning @NSPKU Conference. Metabolic dietitian Suzanne Ford kicks us off with a look at the treasure trove of information on the NSPKU webpage.

the research page has open access to relevant studies, while the documents page is a rare resource of helpful information.

Plus, full page copies of the News & Views!

image/jpeg

poconnor, to india
@poconnor@pkutalk.com avatar

🇮🇳 Achievement unlocked. Just sold in ! 🥳 This book is now helping people in 13 countries.

Plus, if you are in the , you can now buy direct via Shopify. This helps you with 10% off, and helps me with more support (££!)

Thanks all, looking forward to seeing some of you at the this weekend

cilib, to bbs
@cilib@social.cologne avatar

📣 Exciting update from the Nephrolab :koeln: Cologne:

This preprint marks our debut in the BBS research area, presenting work of Emilia Kieckhöfer on cystic kidney disease in Bbs8 and potential mechanisms.
A heartfelt thank you to Helen May-Simera and her team, along with all other contributors, for their invaluable support!

https://www.biorxiv.org/content/10.1101/2024.03.07.583949v1


@cilia

Nike_Leonhard, to random German
@Nike_Leonhard@literatur.social avatar

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

petra_sitte, to random German

Im Krankenhausreformgesetz der Bundesregierung kommen derzeit seltene Erkrankungen nicht vor. Das muss geändert werden, um Zentren für seltene Erkrankungen und bestehende Forschungsverbünde nicht zu gefährden.

IHI, to random
@IHI@social.network.europa.eu avatar

📢 IMI projects are ! 👧 Children with are set to benefit from a game-changing platform that is being set up using the results of IMI project EU-PEARL by the Children's Tumor Foundation and Global Coalition for Adaptive Research
Find out more 👉 http://europa.eu/!CMX9nW

pcublogue, to random
@pcublogue@pkutalk.com avatar

Soon available on my channel, my presentation on the challenges of living with at the Educational day of the RQMO.

Take a moment to subscribe in advance. 😊 https://youtube.com/@pcublogue

jdmcg, to disability
@jdmcg@mastodon.nz avatar

Kia ora good mastodon folk. A rare plug from me for you to fill something in. The Rare Disorders NZ survey is open now and we need as many respondents as possible.

If you have a rare disorder, or care for someone who does, please fill this out. The survey results have real significance, and are used to influence decision making across government.

Here's more information: https://www.raredisorders.org.nz/about-rare-disorders/voice-of-rare-disorders-survey-2023/

technewslit, to news
@technewslit@journa.host avatar

An alliance of academic labs and venture investors is starting a new research enterprise to speed development of treatments for rare diseases in the U.S. and U.K.

https://sciencebusiness.technewslit.com/?p=45287

technewslit, to news
@technewslit@journa.host avatar

A new company developing treatments for neurological and psychiatric diseases from aberrant immune system activity is raising $58 million in seed funds.

https://sciencebusiness.technewslit.com/?p=45199

IHI, to environment
@IHI@social.network.europa.eu avatar

🔔 The deadline for IHI call 4 is TWO months today!
📚 Translational knowledge in minipigs
🩸Patient-centric
🏥Inclusive
🧍Better trials for
🌱Improving the impacts of
Details: http://europa.eu/!CYj638

poconnor, to random
@poconnor@pkutalk.com avatar

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.?

IHI, to random
@IHI@social.network.europa.eu avatar

🔎Can you improve for ?
🧬The biology of rare diseases is poorly understood
🩺Tiny numbers of patients make it hard to run clinical trials
➡️Apply now to create trial designs that speed development of treatments
👉https://europa.eu/!CYj638

brittanytrang, to Biotechnology
@brittanytrang@newsie.social avatar

A Jason Mast must-read for catching up on today's big gene therapy question:

It's biology's century, but who's gonna pay for it?

[finding out who was in this room over the course of the story felt like watching the Avengers (of gene therapy) assemble]

https://www.statnews.com/2023/07/31/gene-therapy-crisis-rare-disease-car-t/

Mill_lab, to science

Hi Mastodon community! I am a MRC Investigator and group leader at the MRC Human Genetics Unit at the University of Edinburgh. Very glad to be here...

A certified ' on an organismal scale' fanatic- we believe seeing is believing! We ❤️ hacking ways to 'see' biology happen in real time across scales in health and disease!

Imaging addict. Genome wrangler. Developmental biologist at heart.

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