One of our #RareImpactAwards Industry Innovators this year is Pharming Group NV, developers of the first approved treatment for Activated PI3K Delta Syndrome ( #APDS ), a rare primary immunodeficiency.

Meet the rest of our 2024 Honorees: rareimpact.org

Today is Friedreich's Ataxia Awareness Day. We'd like to take the time to thank them and spread awareness of FA to our community in hope of better treatments and, hopefully, a cure.
hubs.la/Q02xxSlS0

#FriedreichsAtaxia #RareDiseases #StemCells #BetterHumanDiseaseModels

And the #ECRD2024 has started EURORDIS-Rare Diseases Europe #rarediseases

Packed room to hear an outstanding speaker panel at the patients and experts forum during #ATS2024 | American Thoracic Society (ATS) HPS Network National Scleroderma Foundation TheLAMFoundation Cystic Fibrosis Foundation Cystic Fibrosis Research Institute Pulmonary Fibrosis Foundation FSR Vasculitis Foundation The Pulmonary Hypertension Association phaware® Allergy & Asthma Network NORD

🎓PhD done in BiotechHealth! Grateful for 4ys of learning & creativity, focusing on HDGC in Portuguese families. Thanks to my amazing supervisors Carla Oliveira’s Lab & Gustavo Mostoslavsky. Also, huge thanks to all collaborators! Excited to contribute more to #rarediseases research🧬

Excited to help co-create a #MentallyHealthy toolkit for #RareDiseases ✨ Great to see such amazing things like this come out of #ECRD2024 🤝

Thank you to Keith Choate MD, PhD for coming all the way to UW Dermatology UW Medicine to deliver the #Odland Lecture. Was fascinating to hear how his lab Yale Dermatology uncovered key mechanisms that opened new therapeutic avenues for NORD. He clearly captivated Simpson Lab @UWMedicine members 🤩

Solidarity For Brazil! This week our precious RED LATINOAMERICANA DE GENÉTICA HUMANA-RELAGH meeting on #genomics #rarediseases and #rarecancers is saddened by pain and death 🙏🙏🏽🙏🏼🙏🏾 Medical College of Wisconsin Rare Cancer Research Foundation + Pattern.org Rare Disease Advisor RarasNoInvisibles EURORDIS-Rare Diseases Europe MCW Global Ignacio Zarante Palau & Hoenicka IPER-Lab Harmony 4 Hope #BrazilFloods

Thanks to all who attended this panel at #SynBioBeta2024 and to SynBioBeta for the opportunity to share our platform approach to unlocking #tRNA ’s unique ability to scale #geneticmedicines for #rarediseases .

If you missed it, see recent podcasts here:
alltrna.com/press

Today we spotlight Policy Changemaker + #RareImpactAwards Honoree, #Minnesota Rep. Liz Reyer! @lreyer has been a staunch ally to constituents with #RareDiseases , including establishing and serving on the MN #RDAC .

Meet all our #RareImpactAwards Honorees: rareimpact.org

🏷️Revisiting the Clinical Diagnosis of #RareDiseases workshop.

Hosted by THGO and the Department of Biochemistry at MUHAS on 16-17th April 2024.

Participants gained knowledge to understand #genetictechniques for case scenarios and identify rare conditions early in pediatrics.

AB Science Announces Issuance of a European Patent for Masitinib in the Treatment of Severe Mastocytosis with Protection Until 2036 - please check the link for more ow.ly/xYHI50RFFMW AB Science #EMA #Mastocytosis #RareDiseases #Pharmaceuticals

Expanding insights and knowledge about #rarediseases is essential to improving patient outcomes. At the ISPOR 2024 Annual Meeting, we’ll share six poster presentations focused on the latest health economics research across four of our key therapeutic areas. #ISPORAnnual

Exciting times at the #ASGCT2024 27th #AnnualMeeting ! Our Founder & Executive Chairman, @HarshaRajasimha, enjoyed meeting with dignitaries discussing role of @IndoUSrare in fighting #rarediseases .

Here we share some memories from Baltimore event.

#cellandgenetherapy #indousrare

Awesome contributions from Paller Lab Edel O'Toole david kelsell Keith Choate MD, PhD Rajini Rao NiessenLab Pierre Coulombe Kowalczyk Lab + others not on X. Special thank you to NIAMS for attending & supporting NORD. Huge thanks to SID for hosting us at #SID2024 !

Join us in Dallas or on Zoom pre-SID mtg on 5/14 for the inaugural #Darier & #HaileyHailey Disease Symposium. Proud of the program we assembled w/The Green Lab Kowalczyk Lab incl scientists, clinicians & trialists to help move therapies💊 fwd for pts w/these NORD.

Early Career research forum in #rarediseases is underway Queen's University Belfast 🎓 University College Dublin UCD Research IrishResearchCouncil

We are proud to be certified as a Great Place To Work US! This recognition is a testament to our team and the culture we have created. We are driven by a shared passion to develop innovative therapies for people with #RareDiseases .
#GreatPlaceToWork #Biotech

And we continue with the day two ot #ecrd2024 .

Sofie Skoubo shared her story and presented the research she is conducting as part of her PhD studies - telepresence robot solution as a mean to reduce school absences for children with chronic diseases #rarediseases #inclusion