Rare Disease Advisor

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

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

TU7710, a long-acting recombinant activated factor VIIa developed by TiumBio to treat #hemophilia, showed an extended half-life compared with the recombinant human coagulation factor VIIa #NovoSeven® RT, a conventional hemophilia treatment. Read more: https://brnw.ch/21wL5Jo #RareDisease #BloodDisorder

📣A cutting-edge immunotherapy most often used in #BloodCancer treatment, CAR T-cell therapy is generating growing interest among researchers for its potential to treat patients with systemic sclerosis, multiple sclerosis, and other rare #AutoimmuneDiseases. “There has been a huge amount of excitement, and I think appropriately so,” Dr. Dinesh Khanna who is preparing to lead several trials of CAR T-cell products in patients with SSc at the University of Michigan, Ann Arbor, where he serves as director of the scleroderma program, said. “But the data needs to be validated on the effectiveness, on whether it’s effective in a subset of patients or majority of the patients, and on the durability of remission.” 💥Read more about the use of CAR T-Cell therapy as a treatment for those with rare autoimmune diseases: https://lnkd.in/eDtZCtzP  #CARTCellTherapy Kyverna Therapeutics Peter Maag Cabaletta Bio Cartesian Therapeutics Sana Biotechnology, Inc. Bristol Myers Squibb

#PNS2024: Thromboembolic events and opportunistic infections appear uncommon in patients receiving #IgPro20 for chronic inflammatory demyelinating polyneuropathy (#CIDP) or for #immunodeficiency. “IgPro20 [marketed as #Hizentra® by CSL Behring] is a subcutaneous human immunoglobulin approved since 2010 for the treatment of primary and secondary immunodeficiency, and since 2018 for maintenance therapy in CIDP,” wrote Ceri Sawyer, MPH, of CSL Behring and abstract coauthors. Read more: https://lnkd.in/e2D-bj99 Peripheral Nerve Society

📝 Quiz Time! Test your knowledge about the treatment of primary biliary cholangitis (PBC). Vote in the poll below & check your answer here: https://lnkd.in/eW2ERAc5 #RareDisease