Organs-on-Chips as Tools for Predictive Efficacy and Toxicology Assessment of Therapeutics & The NIH Genetic Testing Registry

Video Podcast (CC)Presented by: Office of Rare Diseases Research, the National Eye Institute, National Institute of Mental Health, and the NIH Office of DirectorAired date: 4/4/2013 2:00:00 PM Eastern Time
Source: Videocast Podcasts - Category: Journals (General) Authors: Tags: Health Source Type: video

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CONCLUSION: The prevalence of ENT infections in patients with a primary immunodeficiency is increased compared to the normal population. For the ENT specialist, these findings underline the necessity of including primary immunodeficiency in the differential diagnosis and initiating targeted diagnostic methods where indicated. Interdisciplinary collaboration with rheumatologists and immunologists is highly recommended, particularly for pediatric patients. PMID: 31119330 [PubMed - as supplied by publisher]
Source: HNO - Category: ENT & OMF Tags: HNO Source Type: research
The new device was approved under the Humanitarian Device Exemption, which was created to encourage innovation in rare diseases.
Source: WebMD Health - Category: Consumer Health News Source Type: news
There ’s been an odd-sounding word circulating in the English headlines recently.The word is Orkambi; a drug created by Vertex that treats approximately 40% of people born with the genetic condition, cystic fibrosis. It is the second drug to market in a promising pipeline that targets the CFTR mutation.   True gene therapy it isn’t, but it represents a near-first for a biotech firm, by successfully altering the shape and function of a protein[1]. And priced at £105,000 per patient per year, it is the latest in a long line of medicines the NHS can’t afford.Orkambi has been licensed by the EMAsin...
Source: EyeForPharma - Category: Pharmaceuticals Authors: Source Type: news
Publication date: Available online 22 May 2019Source: TrAC Trends in Analytical ChemistryAuthor(s): Laura García-Carmona, María Cristina González, Alberto EscarpaAbstractMetabolic rare diseases present a serious clinical manifestation causing several problems such as mental retardation, liver damage, hepatocarcinoma and even death without a diagnosis in the first days of life. Additionally, there is not any final treatment for these diseases but a dietary restriction, so patients have to control their biomarkers level during their whole life. Current methods for diagnosis and monitoring are tedious, ve...
Source: TrAC Trends in Analytical Chemistry - Category: Chemistry Source Type: research
Linear IgA bullous dermatosis (LABD) is a rare autoimmune subepithelial vesiculobullous disease due to IgA autoantibodies directed against different antigens of the basement membrane zone (BMZ) of the skin and...
Source: Orphanet Journal of Rare Diseases - Category: Internal Medicine Authors: Tags: Research Source Type: research
Publication date: Available online 23 May 2019Source: Molecular Genetics and MetabolismAuthor(s): Amel Karaa, Amy Goldstein, Cristy Balcells, Kira Mann, Laura Stanley, Philip E. Yeske, Sumit ParikhAbstractThe mitochondrial medicine society (MMS) has previously highlighted the clinical landscape and physician practice patterns of mitochondrial medicine in the US and attempted to develop consensus criteria for diagnosis and management to improve patient coordinated care. Most recently, and in collaboration with US-based patient advocacy groups, we developed a clinical care network to formally unify US-based clinicians who pr...
Source: Molecular Genetics and Metabolism - Category: Genetics & Stem Cells Source Type: research
ConclusionSMA syndrome is a rare disease that can go unrecognized and undiagnosed, exacerbating weight loss in an already significantly malnourished patient population. The diagnosis of SMA syndrome must be based on clinical symptomatology correlated with radiographic information. Once diagnosed, SMA syndrome can be safely treated by conservative measures although occasionally requires invasive intervention in the form of enteral tube placement, percutaneous jejunostomy tube placement, total parenteral nutrition, ligament of Treitz lysis, or duodenojejunostomy.
Source: Abdominal Imaging - Category: Radiology Source Type: research
The lack of epidemiological and clinical data is a major obstacle in health service planning for rare diseases. Patient registries are examples of real-world data that may fill the information gap.
Source: Value in Health - Category: International Medicine & Public Health Authors: Source Type: research
AbstractDrug development for rare diseases is challenged by small populations and limited data. This makes development of clinical trial protocols difficult and contributes to the uncertainty around whether or not a potential therapy is efficacious. The use of data standards to aggregate data from multiple sources, and the use of such integrated databases to develop statistical models can inform protocol development and reduce the risks in developing new therapies. Achieving regulatory endorsement of such models through defined pathways at the US Food and Drug Administration and European Medicines Authority allows such too...
Source: Journal of Pharmacokinetics and Pharmacodynamics - Category: Drugs & Pharmacology Source Type: research
ConclusionsRaDiOS is an ontology that serves as a data repository to automatically build simulation models for the economic assessment of newborn screening for rare diseases.Graphical abstract
Source: Journal of Biomedical Informatics - Category: Information Technology Source Type: research
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