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Father who lived with rare disease for 40 years finally diagnosed after doctor see him tie his shoelaces

Butcher Ian Redfern was with his daughter Evie at The Children’s Hospital in Sheffield, for treatment for her condition Ehlers Danlos Syndrome, when he was diagnosed.
Source: the Mail online | Health - Category: Consumer Health News Source Type: news

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Pediatric brain disease patients the latest to gather data for clinical trials from the comfort of their own home.
Source: WebMD Health - Category: Consumer Health News Source Type: news
LONDON (Reuters) - Shares in Prothena, a biotech company backed by British investor Neil Woodford, plunged 70 percent on Monday after its main drug for treating a rare disease called AL amyloidosis failed in a crucial clinical trial.
Source: Reuters: Health - Category: Consumer Health News Tags: healthNews Source Type: news
When it comes to studying the genetics of the brain, Soo-Kyung Lee is a star, yet she was stunned to discover the cause of her daughter ’ s devastating disabilities.
Source: NYT Health - Category: Consumer Health News Authors: Tags: Genetics and Heredity Brain Babies and Infants rare diseases neurological disorders Source Type: news
(Wyss Institute for Biologically Inspired Engineering at Harvard) NuProbe Global will commercialize the Wyss Institute's DNA nanotechnology-based variant-detecting method as a fast, low-cost and multiplexed molecular diagnostic for different disease areas, including cancer and infectious diseases. The announcement follows a worldwide licensing agreement between Harvard's Office of Technology Development (OTD) and globally-operating NuProbe that will leverage the technology to develop clinical assays capable of simultaneously detecting multiple rare disease-related DNA variants in bodily fluids.
Source: EurekAlert! - Biology - Category: Biology Source Type: news
Tracheobronchomegaly (TBM) is a rare disease of unknown etiology, characterized by dilatation of the trachea and main bronchi. Despite its rarity, TBM has been reported to accompany several conditions, particularly Ehlers-Danlos syndrome. Herein, we report on a 15-year-old patient who was diagnosed with TBM on the basis of radiologic and endoscopic findings and with Ehlers-Danlos syndrome type IVB presenting with marfanoid features, severe kyphoscoliosis, increased skin elasticity, and ongoing hypotonia since the neonatal period.
Source: Journal of Bronchology and Interventional Pulmonology - Category: Respiratory Medicine Tags: Case Reports Source Type: research
Cambridge, MA – September 25, 2017 -- Acer Therapeutics Inc., (Nasdaq: ACER), a pharmaceutical company focused on the acquisition, development and commercialization of therapies for serious rare and ultra-rare diseases with critical unmet medical...
Source: Drugs.com - Clinical Trials - Category: Pharmaceuticals Source Type: clinical trials
Spondylodysplastic EDS (spEDS) is a rare connective tissue disorder that groups the phenotypes caused by biallelic B4GALT7, B3GALT6, and SLC39A13 mutations. In the 2017 EDS nosology, minimal criteria (general and...
Source: Orphanet Journal of Rare Diseases - Category: Internal Medicine Authors: Tags: Letter to the Editor Source Type: research
Hypermobile Ehlers-Danlos syndrome (hEDS), is probably the most common disease among heritable connective tissue disorders. It affects women more than men and causes symptoms in multiple organs. It is associat...
Source: Orphanet Journal of Rare Diseases - Category: Internal Medicine Authors: Source Type: research
The vascular type represents a very rare, yet the clinically most fatal entity of Ehlers-Danlos syndrome (EDS). Patients are often admitted due to arterial bleedings and the friable tissue and the altered coag...
Source: Orphanet Journal of Rare Diseases - Category: Internal Medicine Authors: Source Type: research
The role of physical trauma in the onset of symptoms in Ehlers-Danlos syndrome (EDS) has never been characterized. We sought to search and describe brain lesions EDS patients also having personal history of ph...
Source: Orphanet Journal of Rare Diseases - Category: Internal Medicine Authors: Source Type: research
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