๐ฑโโ๏ธ Introducing Dixie, a vital support within our community!
#MSMDS #MeetTheTeam #ACTA2 #RareDisease
The City of Northglenn Proclaims April 19th CDH Awareness Day!
cdhi.org/the-city-of-noโฆ
#CDH #CDH Awareness #CongenitalDiaphragmaticHernia #CDH AwarenessMonth #April19 #CDH Charity #PediatricSurgery #RareDisease #PatientAdvocacy #proclamation #CDH Proclamation #cityofnorthglenn
Our mission is critically important. Why is it that treatments are shelved and families impacted by GM1 must endure such devastation and suffering?
curegm1.org/take-action
#curegm1 #raredisease #hope #community #advocacy #patients
$SRPT at World Orphan Drug Congress USA next week; 'Trends in the evolving landscape of early access programs' and 'Newborn screening, sequencing, and the future' plus Terri Ellsworth with myTomorrows and Jenn McNary 'Clinical Development & Regulatory' #RareDisease ๐ช terrapinn.com/conference/worโฆ
Rochester, New York Proclamation
cdhi.org/rochester-new-โฆ
#CDH #CDH Awareness #NotJustAHole #CongenitalDiaphragmaticHernia #CDH AwarenessMonth #April19 #CDH Charity #PediatricSurgery #GlobalSurgery #RareDisease #PatientAdvocacy #Donate
#raredisease #raredisease awareness 30 million Americans, 7-10,000 different rare diseases, less than 5% have an FDA treatment. The FDA is not considering our unique needs. No treatment for rare is covered without FDA approval. ๐ค๐คจ๐ง Support Protect Rare HR 6094. Ask me how?!
And it's off!
Our brand new โThis is Meโ #RarePatientPassport is winging it's way around the world ๐ to the first 571 people who signed up!
Giving our RARE community the tools to communicate their #RareCondition their way.
Have you got yours? ๐ฆ
#RareDisease
1 in 10 Americans are affected by a #RareDisease and@DavidsonFB and Uplifting Athletes are teaming up to bring hope and inspiration to the
#RareDisease community. Pledge your support as we host our Lift for Life on April 26: nam10.safelinks.protection.outlook.com/?url=https%3A%โฆ
๐Another productive HTAD Spring Meeting in the books! With a beautiful view of Paris, they discussed ongoing projects such as treatment uniformity, aortic measurement, compendium & more. Many thanks to our members for their commitment!
#rarediseases #marfansyndrome #meeting
$SRPT From 2024 Muscular Dystrophy Association Conference: 'The global statistical test supported the totality of evidence of treatment benefit with delandistrogene moxeparvovec compared with placebo (P=0.0044)' #Duchenne #RareDisease #Elevidys #GeneTherapy PDF: medically.gene.com/content/dam/pdโฆ
๐ข We want to hear from YOU, ๐จ๐ฆ #RareDisease community!
The survey only takes 1-2 minutes, is anonymous, and the data will be used to better understand our audience and make improvements.๐
Click the link to share your thoughts and ideas: survey.ucalgary.ca/jfe/form/SV_6oโฆ
#CRDN
We kicked-off the #ProDGNE International meeting on #GNEMyopathy ๐
Today's talks:
๐ #PatientPartnership in #ProDGNE & #RareDiseases Michela Onali
๐EJP RD - European Joint Programme on Rare Diseases & the upcoming ERDERA Daria Julkowska
๐The EURORDIS-Rare Diseases Europe Open Academy Roseline Favre #patientinvolvement ๐ช๐บ Ilaria Galetti ๐ธ๐ฉ
$SRPT #Duchenne #Elevidys #GeneTherapy #RareDisease Jason James Howard, MD Nemours Children's Health (Delaware): ๐ชyoutu.be/n7-T1ZrDWsU?t=โฆ
We're hoping to revolutionise how children like Sarah, who are living with a #RareDisease , can gain access to life-changing treatments, by exploring how we can make GOSH the holder of market authorisation, or licence, for a gene therapy drug.
Learn more:
gosh.nhs.uk/news/new-plan-โฆ
One workout. One cause. One community. One lift to make a difference for the #RareDisease community! Davidson Football is teaming up with Uplifting Athletes for their Lift for Life on April 26! Pledge your support at: charity.pledgeit.org/davidsonfblfl24
๐กFinding non-coding disease causing variants is like finding needles in a haystack. Solution? Bring a magnet! Here we present BRAIN-MAGNET, an AI model trained on functional genomics that allows to interpret effects of SNVs in enhancers (1)
#genetics #bioinformatics #raredisease
This is going to be a great day! Come along to hear and take part in discussions and networking with the #RareDisease community.