Accelerating Diagnosis for Rare Disease Patients Through Genetic Newborn Screening and Artificial Intelligence
Joined October 2021
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Screen4Care retweeted
Today we hosted @Screen4Care’s Newborn Screening (NBS) Forum, brining together experts to explore the implications of genetic NBS.
As a core partner in #Screen4Care, we are ensuring that the patient voice is at the forefront of these vital discussions.⏬
go.eurordis.org/4qpRco
ALT Meeting participants stand on the steps of the venue.
Screen4Care retweeted
No child should be deprived of early diagnosis and care that can improve or save lives.
Support a harmonised European approach to newborn screening.
Read the 11 Key Principles, available in 13 languages: go.eurordis.org/Jakheu
#NewbornScreening #RareDiseases #EqualCare
ALT "Children with rare diseases should not be discriminated, as they too have the right to quality treatment, care and support." Dainius Puras, Special Rapporteur on the Right to Health (OHCHR)
Screen4Care retweeted
Early genetic checks being developed by researchers with EU and industry funding will accelerate treatments for illnesses that affect millions of people in Europe.
Read more ➡️ europa.eu/!wRCmQ8
#ResearchImpactEU #HorizonMagazine
Screen4Care retweeted
🤝 Siamo felici di annunciare la collaborazione tra OMaR e @Screen4Care, il progetto di ricerca europeo sullo screening genetico neonatale.
Un accordo che mette al centro scienza e comunicazione!
Tutti i dettagli ⤵️
#NewbornScreening #RareDiseases
osservatoriomalattierare.it/…
Screen4Care retweeted
Looking forward joining this event as a speaker tomorrow morning to provide a snapchat of EU-funded research on rare diseases @Kympouropoulos @SMAEurope @Screen4Care @IHIEurope
Screen4Care retweeted
🗓️Save the Dates!
Please reserve October 9-10, 2024, for our third annual International Conference on Newborn Sequencing (ICoNS), #ICoNS24, cohosted with #ScreenPlus in New York City, U.S.A. at the prestigious @NYAMNYC.
Registration opens in Spring 24': iconseq.org/icons-24
Screen4Care retweeted
On March 20, I am hosting an event ‘Navigating Diagnostics Through the Lens of the Pharmaceutical Package and Beyond’ in the European Parliament.
Experts from @EU_Commission, @SMAEurope and
@Screen4Care will discuss the importance of early screenings for the identification of rare diseases and addressing unmet medical needs.
Join our event on 20 March.
Register here: eventbrite.be/e/navigating-d…
Screen4Care retweeted
Wanted to enter the poster competition at #ECRD2024 but ran out of time? It’s your lucky day! ⭐
Submissions are now open until 4 March 2024!
Submit your abstract 👉 go.eurordis.org/iXWrFI
#ActRare2024 #EU2024BE
ALT ECRD 2024 orange background with a photo of 3 people posing in front of a board of posters. Reads "Deadline Extension!"
Screen4Care retweeted
[Magazine] A European collaboration called @Screen4Care bets on genetic testing and new tech to speed up diagnoses for rare diseases #RareDisease euobserver.com/health-post-p…
Screen4Care retweeted
#Newbornscreening holds tremendous promise to propel breakthroughs in disease genes discovery and can positively impact the #raredisease diagnostic journey. We're proud to be involved in this project.
Please read more below about the @Screen4Care approach.
🎉New #Screen4Care publication in the PLoS ONE journal!
✍ Genetic Newborn Screening and Digital Technologies: A Project Protocol Based on a Dual Approach to Shorten the Rare Diseases Diagnostic Path in Europe
#RareDisease #NewbornScreening #OpenAccess
journals.plos.org/plosone/ar…
ALT Screenshot of the Screen4Care publication on the publisher's website.
Screen4Care retweeted
Together with @CBS, we are proud to organize the co-creation activities in #Screen4Care and look forward to continuing the process.
🚀 Exciting update! Our 1st co-creation process with healthcare experts and patient advocates to integrate federated data systems and #AI-based tools in #raredisease diagnosis has been invaluable. Thanks to all participants for making a meaningful impact!
#Screen4Care
Screen4Care retweeted
#Podcast: @Julia_Karow, @WendyKChung, @RobertCGreen, & @jbuchanan_ox discuss takeaways & next steps that arose out of the recent 'International Conference on Newborn Sequencing' (#ICoNS23) that took place in Oct' 23 at @Ri_Science, London.
🔊: mendelspod.com/p/newborn-seq……
Newborn Sequencing 2023 Part II: What Evidence Is Enough?
mendelspod.com/p/newborn-seq…
#ICoNS23 @Julia_Karow @WendyKChung @jbuchanan_ox @RobertCGreen @ICoNSeqOrg
#newbornsequencing
Screen4Care retweeted
Thanks to the European Reference Networks (#ERNs) for #RareDiseases, we're making a difference to the lives of around 36 million people across Europe who are living with a rare disease.
Find out more: europa.eu/!RjvMcY
#HealthUnion
Screen4Care retweeted
At the @Screen4Care Newborn Screening Forum yesterday, we got together with experts from the RD patient community and the Screen4Care partners, talking about the landscape of genetic NBS, the challenge of NBS research vs implementing NBS into health systems and more topics
Great conversations held today with over 40+ participants at our forum on newborn screening with our @screen4Care partners!
ALT The participants stand on the steps outside the conference hall.
ALT The participants sit in rows facing a speaker giving a presentation at the front of the room.
Screen4Care retweeted
At the beautiful @santpaubcn for the @Screen4Care @eurordis Forum on Newborn Screening - looking forward to discussing the tricky problem 'actionability' when considering conditions to screen for.
More on our @GenomicsEngland Generation Study approach at genomicsengland.co.uk/initia…
ALT The Recinte Modernista de San Pau
Screen4Care retweeted
Drs. Alessandra Ferlini & Nicolas Garnier are currently updating us on the progress made at @Screen4Care!
Screen4Care retweeted
@Screen4Care offers an innovative research approach to accelerate rare disease diagnosis, which is based on two central pillars: genetic newborn screening and digital technologies.
Screen4Care retweeted
To celebrate #NewbornScreeningAwarenessMonth, we're introducing the @Screen4Care project! The goal is to use #GeneticScreening🧬and #AI 🤖 to help speed up the rapid diagnosis of #RareDiseases in👶.
Find out more ➡ europa.eu/!3cCK3f
#2023NBS
ALT Newborn yawns. Image by Vasiuk Iryna via Shutterstock
Screen4Care retweeted
Fighting for a diagnosis ✊
Tune in to the latest #EurordisRareOnAir to gain an insight into the results of the recent #RareBarometer survey on diagnosis and hear first-hand why fast and accurate diagnosis is so vital for our community. @Screen4Care
🔗go.eurordis.org/0AhtQC
Screen4Care retweeted
Today, with colleagues from @SMAEurope, @Screen4Care and #ERN clinicians, our Public Affairs Director met @SKyriakidesEU to present a united call from our community for greater EU-wide collaboration and adequate policies for equitable access to newborn screening across Europe. 🇪🇺
ALT A group stand in a row smiling in front of a photo of the European flag.
ALT People sit around a table looking at their laptop screens.