Rare Disease Advisor Takes Silver in the National Azbee Award! We are excited to announce that RDA won the National Silver AZBEE award for conference coverage! This award comes after the RDA team won the Regional Gold AZBEE last month for conference coverage, qualifying them for the finals. The RDA team provided extensive on-the-ground coverage of the 2023 Muscular Dystrophy Association (MDA) Clinical & Scientific Conference, one of the most prominent medical conferences for the rare disease community. Rare Disease Advisor serves healthcare providers, particularly those who may detect, diagnose, and/or treat rare diseases. We publish news, insights, columns, resources, and interactive features to help clinicians decrease the time to diagnosis and treatment of patients with rare diseases. Many of these patients experience misdiagnosis and have the treatment they need delayed for years, negatively affecting their health outcomes. Learn more about RDA’s Winning Submission here: https://lnkd.in/e4qn3VzJ ASBPE #MDAConference #RDAatMDA Haymarket Medical Network MM+M Haymarket Media US

“ITP can change your life, but it doesn’t have to dictate everything you do. Finding ways to still enjoy life and the things that make you happy is key. ITP is not a death sentence, even though it may feel like one in the beginning. It’s just that you have to alter a few things going forward. I didn’t have this mindset in the first year or so of my diagnosis. It’s come over time.” Kristy Coleman has been living with Immune Thrombocytopenia (ITP) since 2019. Since then, she has been committed to sharing her experience in an effort to make those affected by ITP feel supported. Now, as we enter the thick of summer, Kristy opens up about how she manages the effects of ITP during hot weather. Her story goes beyond medical challenges; it's about finding moments of joy and adapting to a new normal as best as you can. 💙Read more from Kristy here: https://brnw.ch/21wLadD #RareDisease #RareDiseaseAdvocate #RareDiseaseAwareness #Zebra #CareAboutRare #FindACure #OrphanDrug #NotThatRare #RareDiseasesMatter #RareDiseaseFighter

In Cureus Journal of Medical Science, physicians presented the rare case of a male patient with primary biliary cholangitis and overlapping autoimmune hepatitis. A 41-year-old man was known to have a 7-year history of elevated liver enzymes, fatigue, pruritus, and Raynaud’s disease. The patient expressed that he only drank socially and denied smoking and illicit drug use. There was no family history of chronic liver disease. Read more: https://brnw.ch/21wL9KG #CaseReport

The FDA has approved crovalimab-akkz (brand name, #PiaSky®) for the treatment of paroxysmal nocturnal hemoglobinuria in adults and pediatric patients aged 13 years and older weighing at least 40 kg. Read more: https://brnw.ch/21wL9gX #FDAApproval #RareDisease

Patients with early Huntington disease (HD) have saccadic, pupil, and blink abnormalities as shown by eye tracking during free-viewing. 📚 Journal of Clinical Neurophysiology Read more: https://brnw.ch/21wL8ZY #RareDisease #HuntingtonDisease

Today, as we celebrate the spirit of independence, let's remember the strength and resilience of those facing rare diseases. On this special day, we honor the brave souls who inspire us with their unwavering determination and extraordinary courage. We are dedicated to raising awareness, providing support, and driving research to improve the lives of those affected by rare diseases. Just as the fireworks light up the night sky, may the spark of hope ignite in every heart. Together, we can create a brighter future for everyone impacted by rare diseases. Wishing you a safe, joyful, and inclusive Independence Day! #RareDiseaseAwareness #IndependenceDay #StrongerTogether #HopeInEveryHeart #RareDisease

New genetically modified induced pluripotent #StemCell lines for Friedreich ataxia have been created to help investigate the pathophysiology of the disease and test therapeutic options, 📚 Stem Cell Research Read more: https://brnw.ch/21wL6YZ #RareDisease

Patient advocacy groups have long sought to raise awareness by putting faces to any number of rare diseases unknown to most people. Beyond the Diagnosis takes that challenge quite literally. The Rhode Island-based charity arranges for artists to paint—at no charge—portraits of children with diseases ranging from cystic fibrosis and spinal muscular atrophy to Prader-Willi syndrome—and some much rarer than these. Its mission, in fact, is to create a portrait for every single rare disease known to humanity. “These kids are not disposable," says Patricia Weltin, founder and CEO of Beyond the Diagnosis. "We wanted to find a way for the medical community to connect with rare-disease children in the hopes it would lead to better care but also treatments and more research funding for these kids.” The exhibit is now up to 150 portraits—and still growing. Read more here: https://lnkd.in/eJiHzQ6K Thank you to the Nizar and Papzoiglou families for sharing your stories with us. #RareDisease #RareDiseaseAdvocate #RareDiseaseAwareness #Zebra #CareAboutRare #FindACure World Orphan Drug Congress USA Jennifer Gillooly Cahoon Dr. Neena Nizar

Inter-alpha-trypsin inhibitor heavy chain H3 (ITIH3) could serve as a pathophysiological-relevant biomarker of disease activity in myasthenia gravis, according to a new study published in the journal Acta Neuropathologica. Read more: https://brnw.ch/21wL6MZ #RareDisease

An increase in oxidative metabolism triggers intracellular fumarate accumulation in mesenchymal stromal cells in #myelofibrosis and drives cellular senescence and the onset of fibrosis, according to a study presented at the European Hematology Association 2024 hybrid congress. Read more: https://brnw.ch/21wL6Eu #RareDisease #EHA2024