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Every story we pull is tagged to the disease it’s about — so you can filter to your condition and read only what matters.
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colonic metastasis from breast carcinoma a case report and systematic review of a rare clinical scenario
Original title: “Colonic metastasis from breast carcinoma: A case report and systematic review of a rare clinical scenario.”
effects of high dose methotrexate on bone metabolism a narrative literature review
Original title: “Effects of high-dose methotrexate on bone metabolism: A narrative literature review.”
new insights into host dermatophyte interactions pathogenesis host defense mechanisms and emerging clinical challenges
Original title: “New insights into host-dermatophyte interactions: pathogenesis, host defense mechanisms, and emerging clinical challenges.”
approach to the patient with thyroid storm
Original title: “Approach to the Patient with Thyroid Storm.”
cd20 monoclonal antibody rituximab for the treatment of diffuse alveolar hemorrhage in children review
Original title: “CD20 monoclonal antibody‑rituximab for the treatment of diffuse alveolar hemorrhage in children (Review).”
The EU-funded DREAMS project welcomes University College London to its consortium to help fast-track new therapies for patients suffering... The EU-funded DREAMS project welcomes University College London to its consortium to help fast-track new therapies for patients suffering from rare neuromuscular disorders. ... Since its launch in 2023, the EU-funded DREAMS(opens in new window) project has been working on cutting-edge methods and tools that will be used to find new treatments for rare neuromuscular disorders with no known cure. Additionally, the rarity of these conditions hampers clinical research and drug development, leaving many patients without approved therapies. DREAMS is addressing these challenges by combining AI-based drug discovery, stem cell data and advanced phenotypic screening to speed up the discovery of promising therapeutic candidates. Its focus is on five rare neuromuscular diseases: centronuclear myopathy, Duchenne muscular dystrophy, Emery-Dreifuss muscular dystrophy type 2, Pompe disease and Danon disease. Further contributions include its specialised assays to test drug efficacy and mechanisms of action, and its deep clinical and scientific knowledge of neuromuscular disorders. These all strengthen DREAMS’ capacity to identify shared disease mechanisms and translate findings to new therapies. “We are delighted that UCL is joining the DREAMS consortium to advance research into rare neuromuscular disorders,” remark UCL researchers Francesco Saverio Tedesco and Sara Benedetti in a news item(opens in new window) posted on the project website. Permalink: https://cordis.europa.eu/article/id/463169-accelerating-discovery-of-novel-treatments-for-rare-diseases
Original title: “Accelerating discovery of novel treatments for rare diseases | News | CORDIS | European Commission”
Jiang: Our goal is to be able to treat or cure every rare genetic disease. The FDA approved CRISPR genome editing treatment for <strong>sickle cell therapy</strong> in 2023—which is quite impressive since CRISPR technology is relatively new.
Original title: “The Future of Gene-Editing Treatments for Rare Diseases | Yale School of Medicine”
The first clinical application of lentiviral-based gene therapy was for treatment of inherited metabolic disorders including X-linked adrenoleukodystrophy (Eichler et al., 2017), metachromatic leukodystrophy (Rosenberg et al., 2016), and mucopolysaccharidoses (Kinsella et al., 2020), with the aim of increasing enzyme bioavailability and brain entry (Begley et al., 2008) for correction of the neuropathological phenotype (see below in the disease sections for more details).
Original title: “Frontiers | Current and Future Prospects for Gene Therapy for Rare Genetic Diseases Affecting the Brain and Spinal Cord”
Diseases caused by alterations in the DNA can be overcome by providing the cells or tissues with a functional copy of the mutated gene. The most common form of gene therapy implies adding an extra genetic unit into the cell. However, new genome engineering techniques also allow the modification or correction of the existing allele, providing new possibilities, especially for dominant diseases.
Original title: “Curative gene therapies for rare diseases | Journal of Community Genetics | Springer Nature Link”
Most genetic diseases are considered very rare or ultrarare, defined here as having fewer than 1:100,000 cases, but <strong>only one of the 12 approved gene therapies (excluding RNA therapies) targets an ultrarare disease</strong>.
Original title: “Gene therapy for ultrarare diseases: a geneticist’s perspective | Journal of Biomedical Science | Springer Nature Link”
A similar expansion is underway with AAV9 vectors, which can cross the blood–brain barrier via intravascular delivery to treat inherited diseases of the CNS, as first demonstrated with Zolgensma for SMA. 196 , 197 , 198 , 199 , 200 For those interested in tracking marketed gene (and cell) therapies across the world, the International Society for Stem Cell Research maintains an up‐to‐date map.
Original title: “Clinical applications of gene therapy for rare diseases: A review - PMC”
Effective gene therapy approaches have been developed for many rare diseases, including <strong>inborn errors of immunity and metabolism, haemoglobinopathies and inherited blindness</strong>. Despite successful pre-clinical and clinical results, these gene therapies are not widely available, primarily for ...
Original title: “Improving access to gene therapy for rare diseases - PMC”
The technology used in this study was developed using a platform that could be tweaked to treat a wide range of genetic disorders and opens the possibility of creating personalized treatments in other parts of the body. A team of researchers at the Children’s Hospital of Philadelphia (CHOP) and the Perelman School of Medicine at the University of Pennsylvania (Penn) developed the customized therapy using the gene-editing platform CRISPR. They corrected a specific gene mutation in the baby’s liver cells that led to the disorder.
Original title: “Infant with rare, incurable disease is first to successfully receive personalized gene therapy treatment | National Institutes of Health (NIH)”
By introducing, modifying, or repairing defective genes within a patient’s cells, <strong>gene therapy has the potential to restore normal function at a molecular level. This precision can be particularly effective for rare genetic disorders, which often stem from single-gene mutations</strong>, making them ...
Original title: “Gene Therapy in Rare Genetic Disorders: Current Progress and Future Perspectives - PMC”
A 2022 study conducted by Tufts ... that <strong>Phase II and III rare disease clinical trials involved 30% more planned visits, had 23% longer start-up timelines, 19% longer treatment durations, and significantly lower completion</strong> ...
Original title: “The Hard Truth About Rare Disease and Gene Therapy Drug Development | Applied Clinical Trials Online”
Prithviraj Bose, MD, reviews the case of a 57-year-old man diagnosed with polycythemia vera. Thank you for joining us for this Targeted Oncology™ Virtual Tumor Board® focused on myeloproliferative neoplasms [MPNs]. In today’s presentation, my colleagues and I will review 3 clinical cases. We will discuss an individualized approach to treatment for each patient and review key clinical trial data that impacts our decisions. Ruben Mesa, MD: You raised some great points. It was recently Rare Disease Day. I tell my patients with PV that “rare” is in the eyes of the beholder. If you have a disease, it’s not rare. You’ve got it, so it’s clearly a problem for you. But as far as rare diseases go, I tell them that it’s somewhere in the middle. It’s not rare, but not common. This is clearly not the common cold, breast cancer, or prostate cancer, but there are also many incredibly obscure diseases people can have. There are roughly 150,000 patients in the United States. I definitely agree with you that there are probably a lot of more subtle presentations—perhaps not as extreme—because people are iron deficient. Prithviraj Bose, MD: Sure, Ruben. Thank you. The case I’m presenting is a case of polycythemia vera [PV]. We’ll walk you through the initial presentation and the disease course of this patient, with a focus on hydroxyurea resistance that eventually develops.
Original title: “Case 1: Hydroxyurea-Resistant Polycythemia Vera (P. Vera) | Targeted Oncology - Immunotherapy, Biomarkers, and Cancer Pathways”
hidden peril in the ear a case of external auditory canal cholesteatoma in a teenager
Original title: “Hidden Peril in the Ear: A Case of External Auditory Canal Cholesteatoma in a Teenager.”
venous invasion in upper tract urothelial carcinoma diagnostic features and oncologic outcomes
Original title: “Venous invasion in upper tract urothelial carcinoma: Diagnostic features and oncologic outcomes.”
correlation of biochemical and imaging markers with hepatic adenoma in patients with glycogen storage disease a retrospective single center study
Original title: “Correlation of biochemical and imaging markers with hepatic adenoma in patients with glycogen storage disease: a retrospective single-center study.”
fasciitis like primary breast pyoderma gangrenosum a rare case report
Original title: “[Fasciitis-like primary breast pyoderma gangrenosum: A rare case report].”