lnkd.in/eaq_yW29
So honored to be working with Samantha Taylor and serving as Editor-in-Chief
Tiina Urv retweeted
FDA’s Division of Drug Information is here and excited to participate in today’s #RareDiseasesChat!
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Tiina Urv retweeted
New article online from @TuftsUniversity
End-stage crystalline maculopathy with retinal atrophy in Sjögren-Larsson syndrome: a case report & review
bit.ly/3DmZ0k1
@SAGEJournals @Urvalind
#TARareDisease #RareDisease #SjögrenLarssonSyndrome #CaseReport #OpenAccess
Tiina Urv retweeted
Infrastructure like this can be supported in programs like @rarediseasesnet led by @ncats_nih_gov @DRDRI_NCATS or even modeled after.
This cannot progress one RO1 at a time. Need a large multicenter study, with implementation experts, etc. @nih_nhlbi @NHLBI_LUNGDir @ThreeLakes_TLF
Tiina Urv retweeted
📝Registrations are open for the Third International Summit on Human Genome Editing which will take place 6-8 March 2023 at the Francis Crick Institute. Register now to attend in person or online and see the agenda
ℹ️More information: irdirc.org/registration-open…
Tiina Urv retweeted
First Analysis of #Neuromyotonia and #AxonalNeuropathy in Lithuania Leads to Implications for Treatment Strategies
New in @ojrarediseases w/the Inherited #Neuropathy Consortium (INC): ojrd.biomedcentral.com/artic…
Tiina Urv retweeted
The CMTA's Dr Katherine Forsey @DrBiol and Amy Gray were selected to present at the @rarediseasesnet fall meeting today. Here is our poster on CMT and COVID-19, a global study in partnership with the INC @IowaMed and the Italian ACMT-RETE @ecmtf.
#CMTASTAR #CMTresearch #RDCRN
Tiina Urv retweeted
Have you seen this new review article from our sister Journal @TAOphthalmology 👀
#RareDisease #TASeries #RNA #InheritedDiseases #RareEyeDiseases #Ophthalmology #PrecisionMedicine #OpenAccess #FOAMed
We have a new Review online!
RNA-based therapies are a novel #PrecisionMedicine approach to #RareDisease.
Here, Aniz Girach and colleagues review the prospects of RNA-based therapies in inherited retinal diseases: 🔓
journals.sagepub.com/doi/10.…
@TARareDisease #sepofarsen #ultevursen
Tiina Urv retweeted
We are excited for #WODC next week!
Are you attending the World Orphan Drug Congress? Send us a DM if you want to have a chat!
If you haven't signed up there is still time to get discounted tickets here: buff.ly/3wtAzNp
Use our code SAGE20 to get 20% off!
Tiina Urv retweeted
Jennifer Puck, MD, of @UCSFPediatrics & principal investigator of the #PrimaryImmuneDeficiency Treatment Consortium (PIDTC), is leading a clinical trial for #GeneTherapy in patients with Artemis-#SCID. Watch to follow trial participant HT's journey: youtube.com/watch?v=pL5U9pqN…
Tiina Urv retweeted
Meet Michelle Giannotto, our #GlobalAdvocacyAlliance Member Spotlight of the Month. Michelle is the VP of Auto-Brewery Syndrome Information and Research, Inc. Read more about Michelle and what led her to the rare disease community: go.globalgenes.org/aug-allia… #ABS #CareAboutRare
Tiina Urv retweeted
Want to learn about @rarediseasesnet-sponsored research, connect with #RareDisease researchers, and stay up to date with the RDCRN community? Join our Contact Registry: rdcrn.org/registry
youtube.com/watch?v=QfvFmwCN…
Tiina Urv retweeted
New research from the #LysosomalDisease Network (LDN):
✅ New Method Reveals Insights on #Podocyte GL3 Accumulation in Female Patients with #FabryDisease
Listen & read more: rarediseasesnetwork.org/news…
ALT New Method Reveals Insights on Podocyte GL3 Accumulation in Female Patients with Fabry Disease
Tiina Urv retweeted
How are inequities in newborn screening impacting rare disease communities?
Join us for this special Equity in Newborn Screening panel during Newborn Screening Bootcamp: bit.ly/3R4u3EJ
#SystemNotATest #NewbornScreeningSavesLives #nbsbootcamp
Tiina Urv retweeted
Have you heard? We've launched a new podcast! 🎉 Rare Research Report features summaries of recent #RDCRN-funded scientific publications. Join us for new episodes each month! Search “Rare Research Report” on your favorite podcast app to listen & subscribe! spreaker.com/show/rare-resea…
Tiina Urv retweeted
New funding opportunity! Clinical Research Training Scholarship in #AmyotrophicLateralSclerosis (#ALS) and Related Disorders
✅ Funded by @CReATeRDCRN and @ABFbrain in collaboration with @AANMember
✅ Application deadline: September 1, 2022
Learn more: www1.rarediseasesnetwork.org…
ALT Clinical Research Training Scholarship in ALS and Related Disorders
Tiina Urv retweeted
Exciting opportunity in translational neuroscience! Rosamund Stone Zander Translational Neuroscience Center @BostonChildrens and @harvardmed has an ongoing search for new faculty member. Deadline is October 10th, 2022. For more info, please see nature.com/naturecareers/job…
Tiina Urv retweeted
What are the competencies and resources that your patient organisation should have to plan and implement meaningful patient engagement activities?
Be prepared to make patient engagement in medicines development easier for all with this online course!
👉cutt.ly/gZEriSR
Parent's of children with rare diseases are important members of research teams - Listen to their voices! Here is one opportunity to do so.
journals.sagepub.com/doi/pdf…
Tiina Urv retweeted
We are ready for #ECRD2022 are you? 🦓
It's a new dawn, it's a new day...for #ECRD2022, and we're feeling good. And we hope so do you! Get ready for the first day of ECRD 2022, and join our opening plenary session at 2 pm CET.
🕝 Time is ticking! Register now if you haven't done so yet: rare-diseases.eu/
