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
Rare Disease Advisor
Book and Periodical Publishing
Rare Disease Advisor is a dedicated resource for healthcare professionals to better understand and diagnose rare disease
About us
Rare Disease Advisor is an online resource for health care professionals who treat patients with rare diseases. Company Overview Haymarket Media offers a wide range of authoritative publications and services for the professional medical community. Rare Disease Advisor is an online resource that provides health care professionals with comprehensive information on important principles of care in rare diseases as well as up-to-date clinical news on the diagnosis and treatment of these conditions. Website features include: • Daily news • Feature articles on key issues in rare disease • Live conference coverage • Expert opinion articles, including exclusive guest editorials from leading rare disease experts • Concise drug monographs • Medical slideshows • Videos • Continuing medical education (CME) activities • And more...
- Website
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https://www.rarediseaseadvisor.com/
External link for Rare Disease Advisor
- Industry
- Book and Periodical Publishing
- Company size
- 11-50 employees
- Type
- Privately Held
- Specialties
- Rare Disease, Pompe Disease, Alagille Syndrome, Neuromyelitis Optica Spectrum Disorder, Pulmonary Arterial Hypertension , Cold Agglutinin Disease, Spinal Muscular Atrophy, Duchenne Muscular Dystrophy, Hemophilia, Sickle Cell Disease, Myasthenia Gravis, Long Chain Fatty Acid Oxidation Disorder, Gastrointestinal Stromal Tumor, Lysosomal Acid Lipase Deficiency, Multiple Sclerosis , Cholangiocarcinoma, Medullary Thyroid Carcinoma , Alpha-1 Antitrypsin Deficiency, Cystic Fibrosis , Idiopathic Pulmonary Fibrosis, Systemic Mastocytosis, Hereditary Angioedema, Hereditary Transthyretin Amyloidosis, Diffuse Large B-Cell Lymphoma, Huntington Disease, and Wilson Disease
Employees at Rare Disease Advisor
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Thomas Bartlett
Myasthenia Gravis Patient Digital Technology Advisor/MGFA National Patient Ambassador - Research and MG Registry/Life Science Technology Advisor
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Juliette Siegfried, MPH
Director, Medical Editing, Writing, and Translating (ES and PT to EN)
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Özge Özkaya
Science Writer at Rare Disease Advisor
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Tara Keith
Freelance Writer
Updates
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Monitoring sleep patterns in the long term using wrist-worn wearable devices can be a potential symptom management strategy in patients with Huntington disease, according to a new study published in the Journal of Clinical Sleep Medicine. Read more: https://brnw.ch/21wLn9E #Neurology
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❓What happens when a rare disease patient works in healthcare? For Danielle Alstat, a primary biliary cholangitis (PBC) patient perspective contributor and respiratory therapist, it means creating a safe, supportive environment with plenty of understanding. “My number one goal with each patient I work with is to ensure they feel safe and comfortable in my testing room. I am very consciously aware of others’ anxieties and fears, so I go out of my way to create a relaxing environment.” Read more in Danielle’s latest column➡️ https://brnw.ch/21wLn9o #RareDisease #Pulmonology #CareAboutRare #StrengthInRare #chronicillnessawareness #spooniesupport #AutoimmuneDisease
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A literature review exploring the main challenges and controversies regarding hematopoietic #StemCell transplantation for patients with #myelofibrosis has been recently published in the journal #Oncology. Read more: https://lnkd.in/ex4VByR7 #Hematology Paola Ranalli
Challenges Found in MF Allogeneic Transplantation
https://www.rarediseaseadvisor.com
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Patients with Lennox Gastaut syndrome appear to experience a significant clinical and economic burden, further illustrating the need for more therapeutic alternatives. The study used closed-claims data to match over 9000 patients with LGS to healthy controls on a 1:1 basis, accounting for age and sex. Read more: https://brnw.ch/21wLmXD
Patients With LGS Could Benefit From Therapeutic Alternatives
https://www.rarediseaseadvisor.com
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Myasthenia gravis should be considered in patients who develop unexplained pharyngeal dysphagia, according to a new study published in the journal The Laryngoscope. Read more: https://lnkd.in/eSQdcxth #RareDisease
Unexplained Pharyngeal Dysphagia Could Be Linked to MG
https://www.rarediseaseadvisor.com
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💡 An international panel of physicians with expertise in myelofibrosis (MF) together with a diverse extended faculty developed new recommendations addressing the critical gaps in the management of MF. There were 5 consensus themes encompassing 25 key clinical questions. These were defining the thresholds for anemia, and when to initiate or modify treatment, defining the threshold for thrombocytopenia and when to begin or adjust therapy, characterizing Janus kinase (JAK) inhibitor failure and what would call for switching therapy, when and how to evaluate prognosis in patients with MF, and unmet needs in MF clinical trials. Read more: https://lnkd.in/efQyMSDF #RareDiseaseResearch
New Recommendations Aim to Address Key Gaps in MF Management
https://www.rarediseaseadvisor.com
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At the age of 15, a German girl named Anna began having trouble breathing and eating. She started losing weight and lost the ability to speak more than 2 or 3 words at a time. Ultimately, she needed a gastric tube to survive. She was diagnosed with FUS P525L, a nano-rare form of amyotrophic lateral sclerosis (#ALS), the debilitating, fatal neurodegenerative disease usually seen in patients 40 to 70 years old. Neil Shneider, MD, PhD, director of the Eleanor and Lou Gehrig ALS Center at Columbia University’s Department of #Neurology, accepted Anna as a patient and treated her with #jacifusen, an experimental antisense oligonucleotide (ASO) that has helped her regain some elements of a normal life. As Anna, now 19, showed the benefits of individualized treatment that targets the genetic cause of a disease, she was the proof-of-concept needed to establish the nonprofit n-Lorem Foundation. The foundation, discovers and develops individualized ASOs for people with “nano-rare” diseases, defined as those affecting fewer than 30 patients worldwide. It commits to offer that treatment at no cost for life, as long as a patient’s physician says its benefits outweigh the risks. Read more about the n-Lorem foundation here: https://lnkd.in/ed749ccK #NanoRareDisease #RareDiseaseResearch #RDAatWODC World Orphan Drug Congress USA Sarah Glass, PhD Eric Hoffman
ASOs Drive Foundation's Work to Develop Treatments for the World's Rarest Diseases
https://www.rarediseaseadvisor.com
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Subacute liver injury was reported for the first time in infants less than 4 weeks of age with spinal muscular dystrophy who received #GeneTherapy, according to #CaseReports published in the journal Molecular Therapy – Methods & Clinical Development. Read more: https://lnkd.in/e8HVXJmf
Subacute Liver Injury Identified in Infants With SMA After Gene Therapy
https://www.rarediseaseadvisor.com
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A new study published in the Journal of Community Genetics has found several key psychosocial challenges to be common among Portuguese young adults with a genetic risk for transthyretin amyloid polyneuropathy (ATTR-PN). Read more: https://lnkd.in/e3kX7RQ3 #RareDisease
Psychosocial Challenges Common in Portuguese Young Adults at Risk of ATTR-PN
https://www.rarediseaseadvisor.com