🤸♀️ We’re excited to be organising a session at #BIO2024 in San Diego! Join us and our all-star speakers for a discussion on ‘Breaking the Rare Disease Deadlock through Multi-Stakeholder Collaboration’.
📅 Weds June 5 at 11:00
📍 Room 26A, San Diego Convention Center
🌐 https://bit.ly/3xFTbx9 #IHITransformingHealth#RareDiseases
Discussion au sujet du patient-partenaire.
📌 Qu'est-ce que c'est?
📌 Comment en devenir un?
No subtitles on the YouTube video. English subtitles available automatically if your Facebook profile is set in English here: https://fb.watch/qr6gcE5-_2/
Le mois de la sensibilisation aux maladies rares se poursuit. Je viens de tomber sur cet article qui parle de mon passage à la Journée éducative du Regroupement québécois des maladies orphelines en octobre.
Si vous voulez voir ça, la vidéo est sur mon blogue.
Continuez à partager à fond avec le hashtag #affichetonzebre pour contribuer à la sensibilisation du public. ☺️🙏🏻
Did you know that February is the Rare diseases awareness month?
Saviez-vous que le mois de février est le mois de la sensibilisation aux maladies rares?
Time for another #introduction since I just moved here. This instance looks great, so I'm hoping it will be my last move.
I'm a #Christian woman first of all. My #faith has been a little shaken by all the #chronicIllnesses I've dealt with, but I'm still a Christian. I'm also #asexual and #aromantic. I've just recently figured this out so I'm still getting used to it.
I'm totally blind, #ActuallyAutistic, and have a very long list of health issues including multiple #RareDiseases. I also live with anxiety.
I'm currently studying for a certificate in #Braille transcription. I originally wanted to be an #accessibility tester, but the course to teach this is more intensive than my health will allow, and I thought I might be good at working with Braille.
My interests include working with #technology, reading both Braille #books and #audiobooks, and #gaming.
I live in Texas, not far from San Antonio, with my Mom, stepdad, 6 #dogs, and lots of #cats. I have a 9-year-old #MiniaturePinscher named Squeaker who I'm very attached to. He's the #dog in my header photo.
🔎Can you improve #ClinicalTrials for #RareDiseases?
🧬The biology of rare diseases is poorly understood
🩺Tiny numbers of patients make it hard to run clinical trials
➡️Apply now to create trial designs that speed development of #RareDisease treatments
👉https://europa.eu/!CYj638
✒ Get started on your application for Call 4!
Topics include:
💡 Expanding knowledge of #minipigs
💉 Patient-centric blood sampling
👩⚕️ Improving trials for #RareDiseases
🌳 #SustainablePackaging & circular manufacture
Official #introduction Toot:
I am a human geneticist and genomicist that studies the causes of Mendelian genetic disorders and #RareDiseases#GeneHunter
I also work on identifying variants of medical relevance in population cohorts to enable #PrecisionMedicine especially in low- and middle-income countries #LMICs
#NewPI Assistant Professor at the International Laboratory for Human Genome Research #LIIGH#UNAM