lnkd.in/eaq_yW29
So honored to be working with Samantha Taylor and serving as Editor-in-Chief
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Tiina Urv
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Tiina Urv retweetledi
FDA’s Division of Drug Information is here and excited to participate in today’s #RareDiseasesChat!
NCATS@ncats_nih_gov
Welcome to the Twitter chat on rare diseases! We’re excited to answer your questions on topics in the rare disease space. Ask them using #RareDiseasesChat. ✅ #GeneTherapy ✅ #DrugDevelopment ✅ #ClinicalResearch ✅ The diagnostic odyssey ✅ #Advocacy ✅ The patient experience
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Tiina Urv retweetledi
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
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Tiina Urv retweetledi
Infrastructure like this can be supported in programs like @rarediseasesnet led by @ncats_nih_gov @DRDRI_NCATS or even modeled after.
Naftali Kaminski@KaminskiMed
@KerriBerriKerri @LidaHariri @rjhomer57 @smlungpathguy @IPFdoc @ivanorosas @Kyle_Bramley @JuliusChapiro @thakore_sanket @LachowiczMarrah This cannot progress one RO1 at a time. Need a large multicenter study, with implementation experts, etc. @nih_nhlbi @NHLBI_LUNGDir @ThreeLakes_TLF
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Tiina Urv retweetledi
📝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-o…
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Tiina Urv retweetledi
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/articles/10.11…
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Tiina Urv retweetledi
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
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Tiina Urv retweetledi
Have you seen this new review article from our sister Journal @TAOphthalmology 👀
#RareDisease #TASeries #RNA #InheritedDiseases #RareEyeDiseases #Ophthalmology #PrecisionMedicine #OpenAccess #FOAMed
Therapeutic Advances in Ophthalmology@TAOphthalmology
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/10.1177/25… @TARareDisease #sepofarsen #ultevursen
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Tiina Urv retweetledi
#ICYMI Joni Rutter, Ph.D., has been selected as the new NCATS director. Dr. Rutter penned a message where she reflects on her new role, the Center’s culture and community, and her initial priorities: bit.ly/3NV0OE6
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Tiina Urv retweetledi
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!
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Tiina Urv retweetledi
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=pL5U9p…
YouTube
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Tiina Urv retweetledi
Congratulations to Joni L. Rutter, PhD, selected as director of @ncats_nih_gov. Dr. Rutter has served as NCATS acting director since April 2021. She officially began her role as NCATS director on Nov. 6. bit.ly/3FZM9Wi
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Tiina Urv retweetledi
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-alliance #ABS #CareAboutRare
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Tiina Urv retweetledi
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=QfvFmw…
YouTube
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Tiina Urv retweetledi
New research from the #LysosomalDisease Network (LDN):
✅ New Method Reveals Insights on #Podocyte GL3 Accumulation in Female Patients with #FabryDisease
Listen & read more: #LDN" target="_blank" rel="nofollow noopener">rarediseasesnetwork.org/news/2022-08-1…
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Tiina Urv retweetledi
🚨 The LitCoin submission window is now open! 🚨
NCATS is collaborating with the #nihHEALinitiative to form a pilot program to demonstrate LitCoin’s potential to affect how research is reported. 1/2
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Tiina Urv retweetledi
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
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Tiina Urv retweetledi
Don’t risk losing it to high blood pressure. If you’re a Black man 28-45, nobody can reduce your risk of stroke and dementia like you. Take charge of your health today. #MindYourRisks mindyourrisks.nih.gov/manage.html
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Tiina Urv retweetledi
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-rese…
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