Filippo Cossalter’s Post

Today's observance of #RareDiseaseDay underscores the importance of patience and resilience for those affected by rare diseases. It's a journey filled with waiting—for the correct diagnosis, the right treatment, and breakthroughs that can offer new hope. At Johnson & Johnson, we’re advancing the science and chasing down breakthroughs in a variety of rare diseases such as PAH, AL amyloidosis, myasthenia gravis, rare inherited retinal diseases, rare maternal-fetal diseases, and rare blood disorders and cancers. Today, with our team, we spent time to reflect on our collective commitment to deepening our knowledge and empathy towards the rare disease community. This session was more than just an awareness opportunity—it was a moment for our team to come together, reflect on the challenges faced by those living with rare diseases, and reinforce our commitment to making a difference in their lives. #RareDiseaseDay #mycompany

Did you know? MASH, or metabolic dysfunction-associated steatohepatitis, is a serious, progressive, metabolic disease affecting the liver, which can be fatal if not managed properly. It is often described as a ‘silent disease’ due to the lack of specific symptoms in the early stages of the disease, which often contributes to a delay in diagnosis. 13 June is Global #FattyLiverDay 🌎 Learn more about living with the condition and the impact of a late diagnosis from Tania. Watch Tania’s story here: https://lnkd.in/dAw55qZV At Novo Nordisk, we are committed to continuing our research with the ambition of developing innovations that can help address the underlying cause of this disease. We hope to double diagnostic rates for people living with moderate to advanced MASH by 2027 💙

"Happy" Rare Disease Day! Today, we bring attention to the importance of supporting those with rare conditions, like Idiopathic Inflammatory Myelitis. As someone who was diagnosed almost 7 years ago, I understand the need for more research, trials, and access to better medicine. That's why I'm grateful for organizations like The Siegel Rare Neuroimmune Association for shedding light on rare diseases and advocating for patients like me. As Han Solo once said, "Never tell me the odds." or if I'll walk again. My case of myelitis is idiopathic, or of unknown origin, making it even more rare. In fact, only about 1400 cases are reported each year, making me one in a million! By learning about rare diseases and raising awareness, we can all help support those who are affected. Let's continue to shine a brighter spotlight on rare conditions and work towards better outcomes for all. #raredisease #rarediseaseday2024 #myelitis #unicorn

Congrats to @Adam Bodansky, Mark Anderson and Joseph DeRisi for this exciting science! Last year, the team led by Olivia G. Thomas showed how antibodies against Epstein-Barr nuclear antigen 1 (EBNA1) target alpha-crystallin B, explaining how Epstein-Barr virus infection is a prerequisite to developing multiple sclerosis https://lnkd.in/g85nQDwe. My lab in India developed alpha-crystallin B as a therapeutic molecule to treat demyelination diseases in animal models. Later, our Stanford collaborator Larry Steinman's lab showed elegantly how alpha-crystallin B works in treating demyelination diseases. Their paper is here. https://lnkd.in/gt6wh4Ch. How is an autoantigen alpha-crystallin B is therapeutic? We have yet to find the answer.

#CTICares: We will show our stripes for Rare Disease Day on February 29th to advocate for research, education, and support for the ~300 million individuals living with a rare disease. The National Organization for Rare Disorders (NORD) is looking for you to #ShowYourStripes too!  CTI is proud to be a leader in rare and orphan disease research, navigating complex and unique trial designs across 40 countries. At CTI, we’re committed to #MovingMedicineForward for patients diagnosed with rare diseases. We strive to bring awareness to the importance of advancing treatments for patients diagnosed with rare diseases. Who will you be showing your stripes for?  #MovingMedicineForward #AdvancingHealthcareSolutions #CRO #ThinkGlobalActLocal #ClinicalResearch #ShowYourStripes #CareAboutRare #RareDisease 

Today and every day, we stand in solidarity with the brave individuals battling sickle cell disease. Their strength and resilience inspire us to take action and break the cycle of this hereditary condition. Awareness and education are crucial. Knowing your genotype empowers you to understand your risk and make informed decisions about your health and family planning. Testing is simple and can have a profound impact on your future and the future of your loved ones. By getting tested and understanding your genetic makeup, you take a vital step towards a healthier life and a brighter future. Let's join hands to spread awareness, support sickle cell warriors, and work towards eradicating sickle cell disease. Together, we can create a world where no one has to suffer from the effects of this condition. Take control of your health today. Get tested, know your genotype, and encourage others to do the same. Together, we can make a significant difference and end the struggle against sickle cell disease for good! #SickleCellAwareness #EndSickleCell #GenotypeTesting #HealthEmpowerment #SupportSickleCellWarriors #GeneticHealth #BrighterFuture #TakeControl

Save the date! Our next Family Conference will be in Fort Worth, Texas in collaboration with Cook Children’s on May 31st – June 2nd. Register early at https://bit.ly/42BrWzl If you would like to stay in-the-know about future conferences, you can subscribe to our mailing list at https://bit.ly/chi-mail #hyperinsulinism #raredisease #congenitalhyperinsulinism #hypoglycemia | Hyperinsulinism | Congenital | HI | Hypoglycemia | Rare Disease

🌟Today is #RareDiseaseDay, a time to raise awareness for all rare conditions, including systemic sclerosis (SSc).🌟 SSc is a rheumatic disease that impacts the connective tissues, causing fibrosis and hardening of the skin and internal organs. Despite its rarity, its impact is profound, often presenting challenges beyond visible symptoms in daily life. #TeamZura is advancing our lead candidate, tibulizumab, to initiate a Phase 2 trial for SSc later this year. Together, let's continue to raise awareness and make a positive difference in the lives of those affected by rare diseases. #SystemicSclerosis #rarediseaseday

Today, on the rarest day of the year, join Takeda in recognizing the 300 million people worldwide living with a rare disease. Takeda is working to accelerate diagnosis and access to care for rare disease patients, with a focus on lysosomal storage disorders (LSDs). The LSD community may be small, but Takeda believes that together, we can speak up to raise awareness for rare diseases, and help patients get referred as early as possible for potentially life-changing testing. Use the hashtag #RareDiseaseDay to spread the word! To learn more about the LSDs in our portfolio, visit the links below: Gaucher disease: https://lnkd.in/eTcyiTQZ Hunter syndrome: https://lnkd.in/eTAq3-VR #RareDiseases #RareDisorders #LysosomalStorageDisorders #HunterSyndrome #GaucherDisease

With over 300 million people affected by rare diseases, it is more important than ever to continue the research that leads to treatments for these individuals. On this Rare Disease Day, CMIC Group reflects on the challenges faced by those with rare diseases and the critical need for increased awareness and collaboration, delving into the intricate history of rare diseases in clinical trials and providing essential guidance for sponsors navigating these complex studies. Explore these insights and more on Rare Disease Day in our latest blog post, “Navigating Rare Disease Research: CMIC Groups’ Commitment to Breakthroughs and Sponsor Guidance.” https://lnkd.in/e6Ykivcp #RareDiseaseDay #rarediseaseday2024 #ClinicalResearch #CMIC