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

#ACAAI24: Several factors, including symptom severity and psychological distress, may contribute to elevated disease burden in patients with hereditary angioedema and their caregivers. Read more: https://bit.ly/3C4Ec21 American College of Allergy, Asthma and Immunology (ACAAI)

Patients with acute lymphoblastic leukemia (ALL) could benefit from a novel treatment presentation soon to be available to the pediatric population, according to a press release by Shorla Oncology. “This approval follows JYLAMVO’s successful use in adult patients and represents a critical step forward in addressing the unmet needs of pediatric care in oncology and autoimmune diseases,” said Sharon Cunningham, chief executive officer of Shorla Oncology. Read more: https://lnkd.in/e39cXGGr

Pacemaker implantation appears to correlate with a higher sudden death risk in patients with transthyretin amyloid cardiomyopathy. Read more: https://bit.ly/3NIAKN9

Myopathic changes seem to be a critical pathophysiological component associated with fatigue in patients with myasthenia gravis (MG), according to a new study published in the journal Heliyon. Read more: https://bit.ly/4f1JsSt #RareDisease

💡 Among pediatric patients with achondroplasia, MRI analysis of brain structures may help to provide a standardized value for recommending decompression surgery. Read more: https://bit.ly/3AjO3k4 #SkeletalDysplasia

“Telling your family and friends you have a disability can be tough. Telling your employer can be much tougher. When it comes to disclosing a disability or requesting an accommodation, many people with multiple sclerosis (MS) worry that they’re damned if they do but might be damned if they don’t.” Ed Tobias has seen this problem from both sides. In his latest patient perspective article, he writes about the challenges of disclosing a disability and tools to help guide your decision. Read more here ➡️ https://bit.ly/3YIlAhd #RarePatientVoice #RareCommunity #MSWarrior #MultipleSclerosisFighter #MSStrong #MSCommunity #CureMS

The potential of autologous hematopoietic and mesenchymal #StemCells could be game-changers in reducing multiple sclerosis recurrence and enhancing disability improvement. Read more: https://bit.ly/48ybPWc 📚 Multiple Sclerosis and Related Disorders Journals

Recent study findings highlight the importance of genetic profiling in understanding and managing immune-mediated disorders related to platelet function. Discover how genetic profiling impacts risk factors here: https://bit.ly/4hngcHA #PlateletDisorder

Neck triangle nerve enlargement appears to correlate with autonomic nervous system dysfunction indicative of transthyretin amyloidosis polyneuropathy in patients with hereditary ATTR. Read more: https://bit.ly/3Upa9s9 #RareDisease