As someone living with HoFH, I know firsthand the challenges we face and the critical importance of dedicating a day to shine a light on this genetic #RareDisease
Let's #Unite4HoFH & amplify our voices. Every action moves us closer to unity and understanding.
A study has demonstrated how 3D printing can be used to manufacture tailored, safe, and effective treatments for patients with rare diseases via pharmaceutical compounding - European Pharmaceutical Review
europeanpharmaceuticalreview.com/news/227640/be…
#3DPrinting #healthcare #RareDiseases
Pleasure to share my recent chat with Nancydi 💙🖤💙 from the GBS|CIDP Foundation as GBS|CIDP Awareness Month kicks off. Nancy is a remarkable #raredisease advocate and support to those with #GBS , #CIDP and #MMN .
Full episode at buzzsprout.com/2128106/episod… and all major podcast platforms😀
Pancreatic Cancer Is Difficult to Treat. University of Wisconsin Researchers Think Nano-drugs Hitching a Ride on Bacteria Could Help - please check the link for more ow.ly/JIzE50RvzfF UW–Madison #NanoDrugs #PancreaticCancer #CancerResearch #RareDiseases
What causes Canavan disease? Learn more about the causes as we dissect its genetic roots and the mechanism by which it affects individuals. #myrtelle #canavandisease #RareDisease
bit.ly/44gFFw8
It all started with 1 #RareDisease patient with #PrimaryCiliaryDyskinesia (PCD) in whose #WholeGenomeSequencing identified one missense variant in TUBB4B, not in her parents. Together we found 11 more patients with often recurrent variants. Different to #LCA blindness allele /3
morning — for those who, like me, need some respite (soft)
finding it in nature
Cardigan Bay ( #OTD )
I return to the sea
#blues
#dawn #firstlight #landscapephotography #seascape
#Mindfulness
#neurodegenerative #raredisease #CBD #PSP
#CardiganBay
💻 Next Thursday, join our #webinar on the new #Call4Projects by Share4Rare, aiming to kickstart research projects on #rarediseases within our platform.
📆 May 9th
🕰️ 4:00 PM (CEST)
More information and registration ✍️ share4rare.org/news/share4rar…
Yuki Ohnishi, MD presented TAFRO syndrome on The Clinical Problem Solvers 3/17 VMR which is a rare and complex disorder.
This multisystem inflammatory condition poses a diagnostic challenge and requires a multidisciplinary approach for effective management. #TAFROSyndrome #RareDiseases #MedTwitter
Nicola's Ty Beanie sloth arrived safely in Italy 🇮🇹
Love the matching T shirt!
Very cute 🧡🦥
#FindYourTribe
#PompeDisease #NewBornScreening #RareDisease #PompeItaly
🎓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🧬
InFocus
#Precisionmedicine #molecular #Diagnostics #rarediseases #infectiousdiseases #NGS #genetics #affordability #Accessibility
nextedge.in/infocus/leadin…
🎊 OUR BIGGEST FUNDRAISING EVENT OF THE YEAR IS HERE!!
💰Register: ecs.page.link/WEqLL
➡️How to Register tutorial: ecs.page.link/aivvU
🙌Team up: ecs.page.link/gsJf9
#cancerpatients #appendicealcancer #rarecancer #raredisease #appendixcancer
Help little Eli and Easton get the gene therapy needed to fight Spinal Muscular Atrophy. A one-time infusion costing 1-2.5 million dollars per child. ❤ #HelpEliAndEaston #RareDisease #DonateOrShare #gofundmecampaign #help gofund.me/d682163f