Tiina Urv

[Tiina Urv @Urvalind]

https://t.co/d6jDAKLwME
So honored to be working with Samantha Taylor and serving as Editor-in-Chief

[FDA Drugs and Biologics @FDADrugs]

FDA’s Division of Drug Information is here and excited to participate in today’s #RareDiseasesChat!

[Therapeutic Advances in Rare Disease @TARareDisease]

New article online from @TuftsUniversity

End-stage crystalline maculopathy with retinal atrophy in Sjögren-Larsson syndrome: a case report & review

https://t.co/XRFALoyd9f

@SAGEJournals @Urvalind

#TARareDisease #RareDisease #SjögrenLarssonSyndrome #CaseReport #OpenAccess

[Marrah Lachowicz-Scroggins @LachowiczMarrah]

Infrastructure like this can be supported in programs like @rarediseasesnet led by @ncats_nih_gov @DRDRI_NCATS or even modeled after.

[IRDiRC @irdirc]

📝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: https://t.co/VcAiBh2CpY

[Rare Diseases Clinical Research Network @rarediseasesnet]

First Analysis of #Neuromyotonia and #AxonalNeuropathy in Lithuania Leads to Implications for Treatment Strategies

New in @ojrarediseases w/the Inherited #Neuropathy Consortium (INC): https://t.co/n6UGC9dgEd

[Charcot-Marie-Tooth Association @cmtausa]

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

[Therapeutic Advances in Rare Disease @TARareDisease]

Have you seen this new review article from our sister Journal @TAOphthalmology 👀

#RareDisease #TASeries #RNA #InheritedDiseases #RareEyeDiseases #Ophthalmology #PrecisionMedicine #OpenAccess #FOAMed

[Therapeutic Advances in Rare Disease @TARareDisease]

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: https://t.co/42FWJlSjuU

Use our code SAGE20 to get 20% off!

[Rare Diseases Clinical Research Network @rarediseasesnet]

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: https://t.co/FFcZXhEHq8

[Global Genes @GlobalGenes]

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: https://t.co/WRwyfTxDlR #ABS #CareAboutRare

[Rare Diseases Clinical Research Network @rarediseasesnet]

Want to learn about @rarediseasesnet-sponsored research, connect with #RareDisease researchers, and stay up to date with the RDCRN community? Join our Contact Registry: https://t.co/j56YFEkxjl

https://t.co/70lM8f5onF

[Rare Diseases Clinical Research Network @rarediseasesnet]

New research from the #LysosomalDisease Network (LDN):

✅ New Method Reveals Insights on #Podocyte GL3 Accumulation in Female Patients with #FabryDisease

Listen & read more: https://t.co/unnilDaSvk

[EveryLife Foundation @EveryLifeOrg]

How are inequities in newborn screening impacting rare disease communities?

Join us for this special Equity in Newborn Screening panel during Newborn Screening Bootcamp: https://t.co/w2v07xGg73

#SystemNotATest #NewbornScreeningSavesLives #nbsbootcamp

[Rare Diseases Clinical Research Network @rarediseasesnet]

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! https://t.co/5x2HsjQkIO

[Rare Diseases Clinical Research Network @rarediseasesnet]

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: https://t.co/MzaGPNccOu

[Mustafa Sahin @sahin_m]

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 https://t.co/cKwTJEHgUw