A new analysis has uncovered stark differences in the rates of breast anaplastic large cell lymphoma (ALCL), a rare cancer often linked to breast implants, among women of different racial…
A recent preprint reported by medRxiv explores the complex relationship between genetic mutations and clinical presentation in Colombian patients with congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21OHD). While…
Alera Bio, a Chicago-based biotech company dedicated to rare neurological diseases, has announced a significant breakthrough in the quest to treat MCT-8 deficiency, otherwise known as Allan-Herndon-Dudley Syndrome. On September…
When Ashley Rowland’s daughter, Aubrie, was diagnosed with a rare mitochondrial disease called AARS2-related leukoencephalopathy before her first birthday, Ashley’s world changed forever. Seven years later, she continues her fight—not…
Rare cancers, defined by their low incidence, collectively constitute nearly a quarter of all cancer diagnoses in the US and Europe, and represent a significant public health challenge. Despite their…
A major new synthesis of research has confirmed that people living with antineutrophil cytoplasmic antibody (ANCA)-associated vasculitis (AAV) face a markedly increased risk of developing cancer. Published in Zeitschrift für…
Recent research has brought to light striking genetic differences in chronic lymphocytic leukemia (CLL) among African American (AA) patients, suggesting that their disease may follow a distinct course compared to…
Misfolded proteins found in motor neurons are the cause of muscle weakness and paralysis. People with Amyotrophic Lateral Sclerosis (ALS) generally live two to four years after the onset of…
A recent study published in Clinical Lymphoma, Myeloma, and Leukemia offers new hope for older adults with myelofibrosis (MF), suggesting that allogeneic hematopoietic stem cell transplantation (allo-HCT) remains a viable,…
JCR Pharmaceuticals Co., Ltd., a leader in therapies for rare and genetic diseases, has reached an important milestone in its ongoing collaboration with Alexion, AstraZeneca’s rare disease division. The achievement,…
Jazz Pharmaceuticals plc has taken a major leap in rare cancer treatment with the recent FDA accelerated approval of Modeyso (dordaviprone), the first-ever therapy for relapsed H3 K27M-mutated diffuse midline…
On September 3, 2025, the US Food and Drug Administration (FDA) introduced the Rare Disease Evidence Principles (RDEP) process, a groundbreaking step for drug development targeting ultra-rare genetic diseases. According…
A groundbreaking study from the Molecular Oncology Research Center at Hospital de Amor in Barretos, Brazil, is paving the way for more personalized and less toxic treatments for children with…
Hemolytic disease of the fetus and newborn (HDFN) stands as one of perinatal medicine’s most complex challenges. A recent systematic review, published in the Journal of Perinatology by Verweij, Lopriore,…
Learning that your child has neurofibromatosis type 1 (NF1) can be overwhelming. NF1 affects each child differently and brings uncertainty, but with the right knowledge, resources, and support, parents can…
MyOme, a Menlo Park leader in clinical whole genome analysis, has announced a significant upgrade to its rare disease testing platform, now offering tandem repeat expansion (TRE) and mitochondrial genome…
Luke McCarthy of Killybegs is preparing to take on the Galway Bay Marathon, not just as a personal fitness goal, but as a heartfelt tribute to his father, Joe, who…
On Sunday, more than 100 medical experts from across the globe gathered in Rochester for the Mayo Clinic’s four-day “Undiagnosed Hackathon”—a pioneering event dedicated to solving rare diseases that have…
After years of determined advocacy and scientific perseverance, Stealth BioTherapeutics has achieved a landmark victory with the FDA’s accelerated approval of elamipretide (now branded as Forzinity) the first-ever treatment for…
Gomekli (mirdametinib) has become the first FDA-approved treatment for both adults and children with neurofibromatosis type 1 (NF1) who have plexiform neurofibromas (PN)—tumors that often cannot be surgically removed. While…
Avacopan, a novel oral therapy for antineutrophil cytoplasmic antibody-associated vasculitis (ANCA-AAV), has changed treatment paradigms for this rare but serious disease. However, until now, a validated technique for measuring avacopan…
Neurofibromatosis Type 1 (NF1) is a genetic disorder diagnosed primarily through a set of clinical criteria established by the National Institutes of Health (NIH). Typically, a clinical diagnosis of NF1…
In our third installment from our series of reports provided by our partner TREND Community, we are bringing you several reports that analyze the effects of sleep disorders. This week…
In the heart of south Wales, a small but growing community is grappling with the devastating impact of Dentatorubral-pallidoluysian atrophy (DRPLA), a rare inherited neurological disorder that, until recently, was…
Assertio Holdings has announced the results of the first real-world evidence study evaluating patient experience with SYMPAZAN® (clobazam) oral film, presented at the 150th Annual Meeting of the American Neurological…
© Copyright 2024 Patient Worthy
Sign Up With a Patient Worthy Account and Share Your Rare Story
- OR -
Make a difference, share your experiences and get paid. Opt-in and join Patient Worthy's panel for paid opportunities such as surveys, market research, patient advisory panels and more.
- OR -
Make a difference, share your experiences and get paid. Opt-in and join Patient Worthy's panel for paid opportunities such as surveys, market research, patient advisory panels and more.
