Whole Genome Trio Sequencing as a Standard Routine Test in Patients With Rare Diseases - " GENOME FIRST APPROACH "

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

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Publication date: Available online 15 June 2019Source: Multiple Sclerosis and Related DisordersAuthor(s): Miljenka-Jelena Jurašić, Vanja Bašić Kes, Iris ZavoreoAbstractA common disease like multiple sclerosis (MS) usually dominates the arena of demyelinating disorders; however, when a red flag such as a first relative family history of neurologic disease other than MS is present, the diagnostics may be more challenging.Recently, we have come across an intriguing clinical and diagnostic dilemma requiring extensive literature search and finally, decision making. Namely, initial presentation in our patient was...
Source: Multiple Sclerosis and Related Disorders - Category: Neurology Source Type: research
The Food and Drug Administration Office of Orphan Products Development is launching web-based educational resources for patients and industry on rare disease topics. The page debuts on International Rare Disease Day Feb. 28; topics include how to interact with FDA.
Source: FDA Consumer Health Information Updates - Category: Consumer Health News Authors: Source Type: news
ConclusionsPersistent oral N-acetylcysteine may be an alternative treatment option for secondary PAP.
Source: Respiratory Medicine Case Reports - Category: Respiratory Medicine Source Type: research
A Chicago biotech claims in a new lawsuit that Cambridge venture capital firm Third Rock Ventures and bluebird bio CEO Nick Leschly worked to hinder its drug development efforts so it could more easily obtain a key part of its intellectual property. Errant Gene Therapeutics is suing Third Rock Ventures and Leschly three years after it sued New York-based Sloan Kettering Memorial Cancer Center over a stalled rare disease trial. In the lawsuit, filed on Friday in Suffolk County Superior Court, Errant…
Source: bizjournals.com Health Care:Physician Practices headlines - Category: American Health Authors: Source Type: news
Rare diseases specialist Swedish Orphan Biovitrum (Sobi) has agreed to buy the drug emapalumab and is reorganizing to increase focus on late-stage development in hematology and immunology.Reuters Health Information
Source: Medscape Allergy Headlines - Category: Allergy & Immunology Tags: Family Medicine/Primary Care News Source Type: news
A Chicago biotech claims in a new lawsuit that Cambridge venture capital firm Third Rock Ventures and bluebird bio CEO Nick Leschly worked to hinder its drug development efforts so it could more easily obtain a key part of its intellectual property. Errant Gene Therapeutics is suing Third Rock Ventures and Leschly three years after it sued New York-based Sloan Kettering Memorial Cancer Center over a stalled rare disease trial. In the lawsuit, filed on Friday in Suffolk County Superior Court, Errant…
Source: bizjournals.com Health Care:Physician Practices headlines - Category: American Health Authors: Source Type: news
Floating-Harbor syndrome (FHS) is a rare syndromic short stature disorder caused by truncating variants in SRCAP. Few Chinese FHS patients had been reported so far and limited knowledge regarding the benefit of g...
Source: Orphanet Journal of Rare Diseases - Category: Internal Medicine Authors: Tags: Research Source Type: research
Mucopolysaccharidosis IVA (MPS IVA) is an autosomal recessive lysosomal storage disease due to N-acetylgalactosamine-6-sulfatase (GALNS) deficiency. It results in accumulation of the glycosaminoglycans, kerata...
Source: Orphanet Journal of Rare Diseases - Category: Internal Medicine Authors: Tags: Research Source Type: research
Publication date: May 2019Source: Advances in Chronic Kidney Disease, Volume 26, Issue 3Author(s): Maria Andrievskaya, Adrienne Lenhart, Junior UdumanIn the past decade, hepatitis A has been considered a rare disease in the United States, largely due to targeted vaccination of at-risk children. Evolving epidemiology has resulted in decreasing immunity and increasing hepatitis A infections among adults who are more likely to experience severe disease. A surge in outbreaks has been noted in the past 2 years, resulting in a high volume of hepatitis A related hospitalizations and complications in otherwise healthy individ...
Source: Advances in Chronic Kidney Disease - Category: Urology & Nephrology Source Type: research
ConclusionAlthough there were anatomical issues in the present case, thrombectomy and bypass surgery were successful and no complications have occurred one year after surgery.
Source: International Journal of Surgery Case Reports - Category: Surgery Source Type: research
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