Pooling resources to make better diagnoses of rare diseases

By pooling patient data and applying state-of-the art genetic methods, EU-funded research is improving the diagnosis of rare diseases that affect the lives of tens of millions of EU citizens.
Source: EUROPA - Research Information Centre - Category: Research Source Type: news

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ConclusionsWe found a high willingness-to-pay for innovative drugs in oncology and hematology. The wide range of responses observed, however, indirectly implies a lack of consensus on the use of explicit ICER thresholds in Bulgaria.
Source: Value in Health Regional Issues - Category: International Medicine & Public Health Source Type: research
Conclusion: Automated detection of macular diseases from OCT images might be feasible using the CNN model. Image augmentation might be effective to compensate for a small image number for training. PMID: 31093370 [PubMed]
Source: Journal of Ophthalmology - Category: Opthalmology Tags: J Ophthalmol Source Type: research
Authors: Liebowitz J, Hellmann DB, Schnappauf O Abstract Three sisters of Northern European descent provided an opportunity to examine the longterm course and possible familial aspects of a rare disease, polyarteritis nodosa (PAN). Approval and consent was obtained from each patient. PMID: 31092714 [PubMed - as supplied by publisher]
Source: Journal of Rheumatology - Category: Rheumatology Tags: J Rheumatol Source Type: research
Conditions:   Rare Diseases;   Genetic Predisposition Intervention:   Genetic: WGS-Diagnostic Sponsor:   University Hospital Tuebingen Not yet recruiting
Source: ClinicalTrials.gov - Category: Research Source Type: clinical trials
Esophageal adenocarcinoma (EAC) is one of the cancers with the most rapidly rising incidence in the West. In the East, EAC is still a relatively rare disease, despite a slight increase that may be explained by a rise in obesity resulting from Westernized eating habits and by a decline in Helicobacter pylori infection.1 This is also reflected by the study by Abe and colleagues,2 including 372 patients, in 13 participating centers, over an inclusion period of 11 years, which comes down to about 2 to 3 patients with EAC treated with endoscopic resection per center per year.
Source: Gastrointestinal Endoscopy - Category: Gastroenterology Authors: Tags: Original article Source Type: research
ConclusionHealth information seeking and sharing are important aspects of rare disease patients ’ everyday life. Challenges they face could be overcome in cooperation with patient support groups, health care professionals and health information professionals.
Source: Health Information and Libraries Journal - Category: Databases & Libraries Authors: Tags: Original Article Source Type: research
Kaia Ettingoff, five, of Wayne, Pennsylvania, was diagnosed in January 2018 with juvenile dermatomyositis, a rare autoimmune disorder that leaves her with rashes and muscle inflammation.
Source: the Mail online | Health - Category: Consumer Health News Source Type: news
Imagine a country where citizens will have their genetic profiles integrated into the digital health system with individual risk scores and pharmacogenomic information, so when they go to the doctor, they will get fully personalized, genetic risk-based diagnosis, medication, and preventive measures. That’s where healthcare in Estonia will arrive soon. They started to build their digital health system 20 years ago, and within the next years, the Baltic country will start to reap the benefits of a transparent, blockchain-based, digital health system hooked on genetic data. The first fully digitized republic certainly s...
Source: The Medical Futurist - Category: Information Technology Authors: Tags: Future of Medicine Healthcare Policy analysis digital digital democracy digital health digital health strategy digital health system digital healthcare Estonia genetics genomics personalized Personalized medicine pharmacogenomi Source Type: blogs
Although it is considered a rare disease, a study by The National Socio-Environmental Synthesis Center in Maryland, reveals up to 1.83billion people may be exposed to the anthrax bacteria.
Source: the Mail online | Health - Category: Consumer Health News Source Type: news
The Orphan Drug Designation program provides orphan status to drugs and biologics which are defined as those intended for the safe and effective treatment, diagnosis or prevention of rare diseases/disorders that affect fewer than 200,000 people in the U.S., or that affect more than 200,000 persons
Source: FDA Center for Drug Evaluation and Research - What's New - Category: Drugs & Pharmacology Authors: Source Type: news
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