What would you do if your child was struck with an incredibly rare disease? My friend #GingerIrvine and her husband founded a patient's advocacy organisation to fund research into the #Parkinsons-like disease #neuroacanthocytosis and support patients - like their daughter Alex - who live with #NA. Ginger's been recognised with a major award by the International Parkinson and Movement Disorder Society... its first recipient since Michael J Fox: https://www.mdscongress.org/2023-Awardees#public #rareDiseases #advocacy

Looking for old friends and new in the field of #rarediseases #cellbiology #redox #medicine #science. Still kind of #newhere

🔎Can you improve #ClinicalTrials for #RareDiseases?
🧬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 #RareDisease treatments
👉https://europa.eu/!CYj638

Visualization of automatically combined disease maps and pathway diagrams for rare diseases. https://doi.org/10.3389/fbinf.2023.1101505 #PathwayDiagrams #SystemsBiomedicine #RareDiseases #DiseaseMaps #GeneDiseaseAssociation

✒ Get started on your application for Call 4!
Topics include:
💡 Expanding knowledge of #minipigs
💉 Patient-centric blood sampling
👩‍⚕️ Improving trials for #RareDiseases
🌳 #SustainablePackaging & circular manufacture

⏰Deadline: 8 November 2023
👇https://europa.eu/!CYj638

My small company www.collaborationspharma.com works on rare and neglected diseases like Batten Disease CLN1 not because it’s profitable or likely to lead to blockbusters but because it is the right thing todo. Families need to know someone is working on their child’s disease #RareDiseases

We are #hiring! 🎓🔬

Interested in #brain development and #rarediseases ? 🧠🧬Know anyone who might be interested?

Recruitment open King's College London https://tinyurl.com/neurodev Exciting project on #chromatin remodelers in human development with models of Neurodevelopmental Disorders.

#postdocposition #postdoc #neurodevelopment #London #academicmastodon #neuroscience

Commentary: The #FDA is ignoring patients in #clinicaltrials https://thehill.com/opinion/healthcare/4020838-the-fda-is-turning-a-blind-eye-to-patients-in-clinical-trials/ "Rare disease studies are at a disadvantage because of the small patient population sizes and the lack of previously validated clinical endpoints and knowledge about these conditions. The accelerated approval pathway is vital ..." #RareDiseases

Pharma Company Gains Precise Gene Edits in $2B Biotech Deal

A global drug maker is acquiring access to a #biotechnology company's precise #genome editing techniques to develop new #therapies for rare and cardiometabolic disorders.

https://sciencebusiness.technewslit.com/?p=44824

#News #Science #Business #Genomics #GeneEditing #Crispr #Enzymes #Chemistry #BasePairs #BaseEditing #Collaboration #Licensing #RareDiseases

Join #ScienceWebinars as we present our series on advocacy in #RareDiseases with @fondationIpsen

Broadcasting on 4 May at 12 p.m. ET, we present
Surveying the landscape

Register today and join us on 4 May! https://scim.ag/2s5 #press

Innovative therapies bring hope for German myeloma patients https://www.euractiv.com/section/health-consumers/news/innovative-therapies-bring-hope-for-german-myeloma-patients/?utm_source=dlvr.it&utm_medium=mastodon #cancer #multiplemyeloma #rarediseases

Duchenne Data Platform #biocuration2023 #FAIRdata #rarediseases
https://duchenne.nl/duchenne-data-platform-english/

Marco Roos presents the Duchenne Parent Project #FAIRdata https://fairdata.systems/home/duchenne-parent-project/
Overall 7% of the population is affected by rare diseases. Delay to time of diagnosis estimated at 4-5 years. #rarediseases #duchenne
@biocuration2023 #biocuration2023

RT @Melina_Gee
What an unexpected treat! I got to read about the work of @jodieingles27 in the @FinancialReview while out to brunch this morning 📰❤️

An impt article on why the @GarvanInstitute team are increasing the diversity of ethnic groups among their genome sequencing 🧬#rarediseases

A great trimester with amazing master's students at the University College Dublin, School of Psychology, exploring Neurodevelopmental Disorders!🧠

#NDDs #CNVs #RareDiseases #PSY40930 #Genomics #ethics #genetics

@neuroscience @cogsci

Please share with your position-seeking young scientists in stem cell research, thanks! @Lund_Stem @IcahnMountSinai @CedarsSinaiMed @UNIMORE @CuSTOMOrganoids @CIRMnews @McEwenInstitute @NeuralStemCells @IRM_UPenn @UniMelb @DevStem_Pasteur
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RT @marmara_amu
📢 A Junior Professor Chair is available ! Applications open on 11/04. The successful candidate will conduct a #research program on innovative models on #rarediseases, participate i…
https://twitter.com/marmara_amu/status/1644239322193833984

The Sickle Cell Reproductive Health Education Directive's (SCRED) mission is unique in that it specifically focuses on addressing the particular and extremely neglected sexual and #ReproductiveHealth care needs of people with #SickleCellDisease.

I'm thrilled to see the National Governors Association highlight my trailblazing colleague Teonna Woolford, co-founder and CEO of SCRED, in this blog post on improving #HealthEquity for #RareDiseases. https://www.nga.org/news/commentary/improving-health-equity-for-rare-diseases/

Referenced link: https://medicalxpress.com/news/2023-03-genetic-previously-unexplained-rare-diseases.html
Discuss on https://discu.eu/q/https://medicalxpress.com/news/2023-03-genetic-previously-unexplained-rare-diseases.html

Originally posted by Phys.org / @physorg_com: http://nitter.platypush.tech/medical_xpress/status/1636396920141643778#m

RT by @physorg_com: Genetic causes of three previously unexplained #rarediseases identified @NatureMedicine https://medicalxpress.com/news/2023-03-genetic-previously-unexplained-rare-diseases.html

Agreed.

#FDA needs to #removeBarriers for #drugTrials #clinicalTrials of #rareDiseases to give sufferers and their loved ones a #rayOfHope

https://www.statnews.com/2023/02/28/fda-needs-to-build-in-more-flexibility-for-rare-disease-clinical-trials/

DID YOU KNOW?
🔹️25 million people suffer from PH in 🌎?
🔹️3 in 4 pts have advanced dz by the time of dx
🔹️cost of therapies $100k/yr
#phaware #RareDiseaseDay #ShowYourStripes #ShareYourColours
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RT @PHAssociation
More than 25 million people in the U.S. and 300 million people worldwide are impacted by a rare disease. #Pulmonaryhypertension is often associated with other #rarediseases such as #scleroderma, #HHT, idiopathic #pulmonary…
https://twitter.com/PHAssociation/status/1630572366739718146