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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WALTHAM, Mass., Dec. 17, 2018 -- (Healthcare Sales &Marketing Network) -- PharmaEssentia, a global biopharmaceutical company focused on developing and commercializing novel treatments for treatment of rare diseases, today announced that the Committee for... Biopharmaceuticals, Regulatory PharmaEssentia, Besremi , polycythaemia vera
Source: HSMN NewsFeed - Category: Pharmaceuticals Source Type: news
For the second year in a row, Waltham-based consulting firm Trinity Partners found that orphan and ultra-orphan treatments stumbled out of the gate and have failed to find their footing after three years of sales. But some local biotechs bucked the trend.
Source: bizjournals.com Health Care:Pharmaceuticals headlines - Category: Pharmaceuticals Authors: Source Type: news
When Nikki and Danny Miller's two young sons developed strange symptoms, they began searching for a diagnosis. Their odyssey ended when a team of medical sleuths solved the case.(Image credit: Courtesy of Andrew Ross-Perry)
Source: NPR Health and Science - Category: Consumer Health News Authors: Source Type: news
Cystic fibrosis (CF) is a rare disease most commonly seen in Caucasians. Only a few Chinese CF patients have been described in literature, taking into account the large population of China. In this systematic ...
Source: Orphanet Journal of Rare Diseases - Category: Internal Medicine Authors: Tags: Review Source Type: research
Galloway-Mowat syndrome (GAMOS) is a rare autosomal recessive disease characterized by the combination of glomerulopathy with early-onset nephrotic syndrome and microcephaly with central nervous system anomali...
Source: Orphanet Journal of Rare Diseases - Category: Internal Medicine Authors: Tags: Research Source Type: research
Emerging evidence suggests that several factors can impact disease progression in transthyretin amyloid polyneuropathy (ATTR-PN). The present analysis used longitudinal data from Val30Met patients participatin...
Source: Orphanet Journal of Rare Diseases - Category: Internal Medicine Authors: Tags: Research Source Type: research
This article aims to increase awareness of IPF among cardiologists, providing an overview for cardiologists on the differenti al diagnosis of IPF from HF, and describing the signs and symptoms that would warrant referral to a pulmonologist with expertise in ILD. Once patients with IPF have received a diagnosis, cardiologists can have an important role in managing patients who are candidates for a lung transplant or those w ho develop pulmonary hypertension (PH). Group 3 PH is one of the most common cardiovascular complications diagnosed in patients with IPF, its prevalence varying between reports but most often cited as be...
Source: Advances in Therapy - Category: Drugs & Pharmacology Source Type: research
Small cell cancer involving the cervix and uterus is considered the same rare disease, but management is controversial and disparate. Patterns of care and outcomes in the United States are unclear.
Source: Brachytherapy - Category: Cancer & Oncology Authors: Source Type: research
Pancreatic ductal adenocarcinoma (PDAC), although a rare disease, has a poor prognosis. With 5-year overall survival of 8%, there is a critical need to detect PDAC early or at a premalignant stage. Current screening methods are largely imaging based, but a more focused screening approach based on modifiable and nonmodifiable risk factors may improve the efficacy and likely outcomes of screening. In addition, the pathologic mechanisms that lead to the development of PDAC are discussed in an effort to further understand the targets of pancreatic cancer screening.
Source: American Journal of Pathology - Category: Pathology Authors: Tags: Review Source Type: research
Hereditary Haemorrhagic Telangiectasia (HHT) is an autosomal dominant genetic disorder with a wide variety of clinical manifestations due to the presence of multiple arteriovenous malformations in various tiss...
Source: Orphanet Journal of Rare Diseases - Category: Internal Medicine Authors: Tags: Research Source Type: research
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