Study Highlights Epidemiological Trends of ITP in Denmark
Alleviating Dystonia in Wilson Disease Using Botulinum Toxin
Germany Needs Larger Multidisciplinary Centers for Patients With Wilson Disease
Defect-Free Graphene Increases Delivery of ERT to Pompe Disease Cells
Immunosuppression May Prevent Subglottic Stenosis Relapse in AAV
Case Report: MPO-ANCA Antibody Titer Increases, but No AAV Relapse
Kidney Transplantation May Be Safe and Effective for Patients With AAV
Case Report: GPA Complicated by Rare Retinal Detachment
FDA Grants Fast Track Designation to INBRX-101 for Treatment of AATD
Human Amnion-Derived Cells Improve Signs of DMD in Mice
CSF Involvement Linked to Higher Risk of Secondary CNS Disease in DLBCL
Biomarkers During NMOSD Attacks May Predict Disability
Case Report: Successful Free Tissue Transfer in Sickle Cell Disease
Research into a Possible New Cell Line Model for FA Is Progressing
Experimental Human System Used to Study Large-Scale FA Expansions
Ayvakit Now Available to Treat Adults With Indolent Systemic Mastocytosis
Transgenic/Chemogenetic Model Could Provide Mechanistic Insights Into FA
Perampanel Effective in Animal Dravet Syndrome Models
Novel Mouse Model Could Help Explain Pathophysiology of LGS
Molecular Therapies Under Investigation for the Treatment of FAThere are a variety of molecular approaches, including antioxidant, iron chelator, and genetic therapies, that show therapeutic potential in Friedreich ataxia (FA).
SMA Patient and Advocate Mindy Henderson Educates Others as Editor of MDA MagazineMindy Henderson, the new editor-in-chief of the Muscular Dystrophy Association’s Quest magazine, has a lifelong association with the group.
Investigating the Use of Pegcetacoplan in Patients with PNHThere is considerable evidence that the use of pegcetacoplan can alleviate some of the manifestations of PNH.
How Close Are We to a Hemophilia Cure?Hemophilia, a disease described since antiquity, has seen remarkable therapeutic advancements in recent years.
The Value of Calcitonin as a Prognostic Biomarker in MTCStudies have time and again shown that calcitonin is an important biomarker in predicting prognosis in medullary thyroid carcinoma.
Pfizer Gene Therapy Shows Huge Promise for Boys With DMD, But Questions LoomTwo boys with DMD—one in Connecticut and one in California—have shown remarkable results in the trial of a gene therapy from Pfizer.
The Expanding Power of Precision Medicine in Treating Lennox-Gastaut SyndromePrecision medicine aims to provide customized and individualized medical treatment for LGS based on a patient’s unique characteristics.
Enzyme Replacement Therapy in Pompe Disease Care ExploredEnzyme replacement therapy has revolutionzed Pompe disease treatment; however, significant limitations remain.
Exploring Current and Future Therapeutic Options in Treating CCAWhile current therapies have improved cholangiocarcinoma care, future therapies that are even more promising are emerging.
Latest Patient Perspectives
Managing Patients With AATD Who Have Complicating Diagnoses
Sober Reflections on the 7-Year Anniversary of Living With MTC
How I Incorporate Lou Gehrig’s Life Philosophy in My Life
A Rough Road for My Son Before and After ENT Surgery
Rare Care Podcast
Browse Rare Disease Advisor’s engaging “Rare Care” podcast series, featuring interviews with leading researchers, stakeholders, and influencers within the rare disease community.
Latest HCP Insights
Mental Health Toll Reported in Patients With Myasthenia Gravis
“Although rare conditions by definition affect no more than 1 in 2000 individuals, there are over 6000 known conditions so that collectively they represent a substantial health burden, with an estimated 3.5 million affected individuals in the UK,” Spencer-Tansley and colleagues wrote in BMC Health Services Research. The UK population is around 67 million; this…
Understanding Hereditary Angioedema and Associated Comorbidities
While we as clinicians often excel at focusing on the primary diagnosis, especially in the case of a rare disorder, it is important that we also treat all other comorbidities with care; this is because we know that comorbidities are often aggravated by the primary diagnosis and vice versa. This becomes more urgent as patients…
Assessing Existing NMOSD Therapeutic Strategies
Neuromyelitis optica spectrum disorder (NMOSD) is characterized by relapsing attacks, driven by inflammation of the central nervous system. This typically manifests as either optic neuritis or longitudinally extensive transverse myelitis. While some patients are known to have a monophasic disease course, they are decidedly in the minority; most patients with NMOSD experience devastating relapses that…
Tackling Misdiagnosis in NMOSD
In medicine, you cannot treat what you do not diagnose. An undiagnosed/misdiagnosed condition can lead to unnecessary tests and ineffective treatment: an unworkable set of circumstances that leads to nowhere. How common is it for diseases to be misdiagnosed? When I was a medical student, I was informed about the case of a patient with…
Assessing the Role of Occupational Therapy in hATTR
Patients with hereditary transthyretin amyloidosis (hATTR) have to contend with a range of physical and psychological symptoms that can be debilitating. Because amyloid deposition occurs throughout the body, patients are subject to multisystemic symptoms; among these are progressive polyneuropathy, which first manifests as mild autonomic dysfunction and lower limb sensory impairment and progresses to more…
The Reparative Mechanisms of the Lungs and the Future of IPF
Despite the ubiquitous threat of diseases and accidents, the human body retains a wonderful ability to repair and regenerate itself. For this, credit is primarily due to the immune system; without it, human beings would simply die from the smallest of wounds. In addition, thrombostatic agents ensure that we stop bleeding from a cut in…