Rare Autoinflammatory Conditions Community - UK®️

“Patient Experiences and Challenges in the Management of Autoinflammatory Diseases—Data from the International FMF & AID Global Association Survey” (2024) #patientexperience #autoinflammatory

Happy Holidays from all of us to you! Unfortunately, we have to pause all support services as we shall be moving in the New Year. More information will be shared in January / February. #announcement #HappyHolidays2025 #moving

How you and your local care team can prepare for referral acceptance to the Fever Clinic, National Amyloidosis Centre in London #autoinflammatoryaware #referrals #medicalevidence #medicalhistory

The Importance of Research and Awareness Increased awareness can lead to earlier diagnosis, more effective treatments, and improved patient outcomes #research #genetics #autoinflammatoryaware

Diagnosis Diagnosis typically involves a combination of clinical evaluation, family history, and genetic testing to identify specific mutations associated with the disorder #diagnosing #genetics

Treatment approaches These therapies, referred to as Interleukin-1 blockers, help prevent the consequential damage to the body's tissues, offering relief and improved quality of life for individuals with these disorders #treatment #qualityoflife

Role of Cytokines Cytokines play a significant role in the body's immune responses, particularly in inflammation and infection control. #cytokines

Understanding Autoinflammatory Conditions Autoinflammatory conditions represent a group of disorders characterized by seemingly unprovoked inflammation caused by the innate immune system. #autoinflammatoryaware

Lets help to create a better understanding of Autoinflammatory conditions, roles of cytokines, treatment approaches, symptoms and diagnosis, the importance of research and awareness #autoinflammatoryaware #treatment #research #diagnosis #cytokines

Interview has now been published on .@FMFandAID YouTube Channel youtu.be/I0vI3Lo1RlI?si…

📣 Join us over on Youtube 📣 Rachel is going live with Darth Pyrin aka Chris Walker in 15 minutes! youtube.com/live/PNcF-5ECQ… #AutoinflammatoryAware #MevalonateKinaseDeficiency 💚 🩷 💙

Interview has now been published on .@FMFandAID YouTube Channel youtu.be/I0vI3Lo1RlI?si…

Elevated serum levels of interleukin-18 discriminate Still's disease from other autoinflammatory conditions. Sera from 53 mSAID, 220 guSAID, 49 controls show IL-18 signif increased in Still's Dz; free IL-18 levels were selectively higher in Still's disease. buff.ly/WrD9LQk

Updating my articles on NLRP3 and glutamate receptors with this study: cell.com/cell-reports/f… The researchers showed that mice with an NLRP3 gain of function mutation (found in people with autoinflammatory conditions) have repetitive behaviors, like stimming, when the inflammasome is activated by lipopolysaccharide. The NLRP3 activation resulted in the upregulation of glutamatergic signaling through the NMDA receptor.

#MevalonateKinaseDeficiency #Immunometabolism #AutoinflammatoryAware 📣 New Publication📣 Mevalonate Kinase Deficiency Information Booklet (A4) canva.com/design/DAGx8qE…

📣 Shining a spotlight on Jack Drda 📣 Research interest is immunometabolism, with an emphasis on hepatic cholesterol biosynthesis and isoprenoid metabolites in rare autoinflammatory disorders, such as MKD and the newly described PMVK #research #immunometablism 💚 🩷 💙

Jack Drda, Rami Ballout MD, Lyna-Nour Hamidi MD MSc, Sylvain Lanthier MD, Ezgi D Batu MD MSc, Robert D Steiner MD FAAP FACMG. Mevalonate kinase deficiency. In: Lewis SL, Editor-in-Chief. MedLink Neurology. San Diego: MedLink, LLC. Available at medlink.com. Update 2025

We need worldwide patients registries to help inform research and a better understanding of these conditions, globally. #AutoinflammatoryAware #patientregistries #prevalence

#RareDiseaseCommunity Without worldwide #registries, how do we get around being able to estimate the prevalence of conditions? This is making it difficult for #researchers & non profits to apply for #funding. Have you experienced this challenge? How did you overcome it?