📌 Coming up on 10-11 OCT! #RareDiseases conference in #Bilbao
🇪🇺 EU needs a strategy to fight +7000 rare diseases affecting 8% of population > 36 million people @EESC_TEN #EuropeanReferenceNetworks #EU2023ES
ℹ️ https://europa.eu/!3WvDdT 📩 Press contact: press@eesc.europa.eu

🐦🔗: https://n.respublicae.eu/EESC_PRESS/status/1688561782753726464

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

Talked to Wellcome Connecting Science about the challenges and opportunities of doing #RareDiseases research in Mexico & Latin America. The need to increase local/regional access to genomic sequencing and diagnostics to offer better opportunities to patients & families.

https://coursesandconferences.wellcomeconnectingscience.org/news_item/genomic-medicine-in-latin-america-supporting-a-complex-road/

🇪🇺 The EU needs a strategy to fight +7000 #RareDiseases affecting 8% of EU population > 36 million people
👉 EESC will discuss the way ahead on 10-11/10 in #Bilbao @EESC_TEN @Gob_eus #EU2023ES #EuropeanReferenceNetworks
📌 https://europa.eu/!3WvDdT
▶️ Media: press@eesc.europa.eu https://t.co/LIqrdSPRpu

🐦🔗: https://n.respublicae.eu/EESC_PRESS/status/1677311680512917509

Exchange of knowledge on diagnosis and treatment of rare diseases can improve the quality of life of patients
The 2023 #HorizonEU #health call dedicated to the European Partnership on #rarediseases is still open!
📅Apply by 19 September 2023
https://hadea.ec.europa.eu/calls-proposals_en?f%5B0%5D=oe_call_proposals_opening_date%3Alt%7C2023-03-01T13%3A02%3A27%2B01%3A00&f%5B1%5D=oe_call_proposals_status%3Aupcoming&f%5B2%5D=programmes_programme%3A52 https://t.co/oa0eS6TxcJ

🐦🔗: https://n.respublicae.eu/EU_HaDEA/status/1677218475687784448

RT STOA Panel
🔴Taking place today at 14h CET
Info & watch online: https://www.europarl.europa.eu/stoa/en/events/details/eu-collaborative-models-to-tackle-childh/20230420WKS05221
#STOAevent #cancer #rarediseases @weisspernille
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STOA Panel: LAST DAY TO REGISTER!
🗓 Wed, 5 July from 14:00 CET
#STOAevent on EU collaborative models to tackle childhood cancer
👇👇👇
https://www.europarl.europa.eu/stoa/en/events/details/eu-collaborative-models-to-tackle-childh/20230420WKS05221 https://t.co/uYLa0xeJ9A
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🐦🔗: https://n.respublicae.eu/EP_ScienceTech/status/1676497776140492801

I haven't posted about my work in rare disorder advocacy for awhile, mostly because I have been dealing with some adverse health of my own.

The work goes on, however, and I'll be meeting the Minister of Health next week to discuss progress towards a national strategy for rare disorders. Personal challenges only add to my conviction in, and provide insight to, the need for change.

I'm feeling very thankful for the support of my lovely family, and a great specialist.

#RareDiseases #healthcare

Hey #sundpol ⛑️
Det er mit initiativ. Faktisk. Sammen med blandt andre @Rigshospitalet ‘s børnekræfteksperter og deres samarbejdespartnere.
Kom med 🙏🏻
#eudk
#sjældnesygdomme
@cancer_dk @Lene_Jensen_DK https://n.respublicae.eu/EP_ScienceTech/status/1671817408078544896
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STOA Panel: ❗#RareDiseases affect less than 5/10 000 people in 🇪🇺
❗#cancer is a leading cause of death among children
How could #biosensors help treat #RareDiseases?
👉https://www.europarl.europa.eu/RegData/etudes/ATAG/2023/747441/EPRS_ATA(2023)747441_EN.pdf
#STOAevent on EU collaborative models to tackle childhood cancer
👉https://www.europarl.europa.eu/stoa/en/events/details/eu-collaborative-models-to-tackle-childh/20230420WKS05221 https://t.co/8BCPVmIWwr
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🐦🔗: https://n.respublicae.eu/WeissPernille/status/1671824990390329346

I was happy to talk to #ASHG about the impact that the Human Genome Project had in my interest to pursue a scientific career in human genetics & genomics and our efforts to facilitate access to genomic sequencing for patients living with #RareDiseases in Mexico 🇲🇽🧬
#ReMexER #LIIGH_UNAM

https://www.ashg.org/discover-genetics/perspectives-from-the-field/

Join us in celebrating our new #collaboration with the Critical Path Institute! Learn more about our work to improve #drugdiscovery for #rarediseases here:
https://link.medium.com/Qkc22sufjAb

#teamscience #translationalscience #healthcare

RT @eurordis: The new #RareBarometer survey on newborn screening is now live!

In your opinion, what are the benefits or possible disadvantages related to newborn screening of rare diseases?

Available in 24 languages! 👉https://t.co/OI6UOVHESJ

#NewbornScreening #Diagnosis #RareDiseases https://t.co/WKhDmtA4j8

🐦🔗: https://n.respublicae.eu/EMA_News/status/1664206434865750019

EU and international collaboration is indispensable to advance progress in the area of rare diseases.

Check out the #HorizonEU #health call dedicated to the European Partnership on #rarediseases

📌 19 September 2023

https://hadea.ec.europa.eu/calls-proposals/horizon-europe-health-calls-2023-european-partnership-rare-diseases-destination-3_en

🐦🔗: https://n.respublicae.eu/EU_HaDEA/status/1662360490662858753

RT @EP_ScienceTech: 🗓24/5 17h
#STOAstudy presentations to @EP_Environment on #pharmapackage:
✅Creation 🇪🇺#publichealth body
✅Drug accessibility #AMR #rarediseases
✅#IP rights
✅#Research coherence

👉https://www.europarl.europa.eu/stoa/en/home/news/details/stoa-study-presentation-at-envi-committe/20230131CDT11042

@rosadamato634 @MicheleRivasi @linagalvezmunoz @weisspernille @woelken

🐦🔗: https://n.respublicae.eu/linagalvezmunoz/status/1660644394662350849

RT @iiea: Kicking off @ 1pm today: our next event on the EU Health Union and Ireland, we'll be talking about #RareDiseases with @BillyKelleherEU Vicky McGrath of @RareDiseasesIE Prof Seán Gaine and Jennifer Lee of @JanssenIE - join online here https://iiea.zoom.us/webinar/register/WN_Y3LYpBTuREaiOPnPCldRZQ https://t.co/5GwDllFLXL https://t.co/VJztk769qg

🐦🔗: https://n.respublicae.eu/BillyKelleherEU/status/1653734611376119809

RT @shahida_moosa
Prof Marquardt: To be successful in #RareDiseases you need: enthusiasm, curiosity, tenacity and time...
We @RareGenomicsRSA in #Africa add
more #access #equity #Genomics
It's in German, pls use your favorite translator! Well worth a read and watch the video!
@SuMBHG @SUhealthsci https://twitter.com/se_atlas/status/1653421592490418181

" EHDS is a real game changer for healthcare. And it's a must, especially for #RareDiseases

The European #HealthData Space will revolutionise how we use health data in a safe & trusted way. "

- @SandraGallina on the #EHDS this morning.

#HealthUnion
RT @eu40: 📺We're going live now!
Join our event: European Health Data Space!

Hosted by MEP @sara_saracerdas!

🔷️Link: https://europarl.webex.com/mw3300/mywebex/default.do?service=1&siteurl=europarl&nomenu=true&main_url=%2Fmc3300%2Fe.do%3Fsiteurl%3Deuroparl%26AT%3DMI%26EventID%3D1771248932%26UID%3D875003482%26Host%3DQUhTSwAAAAaNey0CdkJfR-hYcZloo0qfRsLP34Savz8szPiGRviBME4Q9bl6Q5AitLAD9mW2OoE3ngj35TJYwdCBVqk5WWlJ0%26FrameSet%3D2%26MTID%3Dm4ab458c75962199f8ab4852148b282f2 https://t.co/FmswHPsORm

🐦🔗: https://n.respublicae.eu/EU_Health/status/1651508043551588353

Graphic to help understand #wilsondisease #raredisease #RareDiseases

New Friedreich's Ataxia mouse model may aid research, therapy development

Mice house largest reported number of GAA repeats in Frataxin gene

#Neuroscience #Brain #Neurology #NeurologicalDiseases #NeurodegenerativeDiseases #Neurodegeneration #Neurogenetics #NeurogeneticDiseases #GeneticDiseases #RareDiseases #Ataxia #FriedreichAtaxia #Frataxin

https://friedreichsataxianews.com/news/new-fa-mouse-model-may-aid-research-therapy-development/

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

Applications session: Talk

5. Leigh C Carmody talks about MAxO - a structured vocabulary for medical procedures, interventions and treatments for diseases - its development, and tools for the annotation of Rare Diseases

#biocuration2023 #Applications #MonarchInitiative #rarediseases