Orphan Products Natural History Grants

Orphan Products Natural History Grants supporting studies that advance rare disease product development
Source: FDA Center for Drug Evaluation and Research - What's New - Category: Drugs & Pharmacology Authors: Source Type: news

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(Centro Nacional de Investigaciones Oncol ó gicas (CNIO)) Cohesin is a protein complex that plays a key role in cell division; its role in 3D genome structure was described in recent years. Researchers at CNIO have found new functions in the peculiar 3D genome structure of mouse embryonic stem cells. Research on cohesin will help understand how its malfunction contributes to tumorigenesis in some types of cancer, as well as to rare diseases such as Cornelia de Lange syndrome
Source: EurekAlert! - Cancer - Category: Cancer & Oncology Source Type: news
Individuals diagnosed with a rare genetic disease that affects skeletal development often have physical limitations and orofacial problems that exert an impact on oral health. The aim of the present study was ...
Source: Orphanet Journal of Rare Diseases - Category: Internal Medicine Authors: Tags: Research Source Type: research
ConclusionDiamond –Blackfan anemia is a rare disease that carries significant morbidity and mortality if not diagnosed early and managed appropriately. Limited health resources, patient registries, and specialists as seen in developing countries result in a paucity of knowledge about Diamond–Blackfan anemia in Af rica. This case reminds clinicians about Diamond–Blackfan anemia as a cause for anemia in infants, the limitations in making the diagnosis in under-resourced health care systems, and the need for standardized treatment protocols applicable to resource-limited countries.
Source: Journal of Medical Case Reports - Category: General Medicine Source Type: research
Schimke immuno-osseous dysplasia (SIOD) is an extremely rare autosomal recessive pleiotropic disease. Although biallelic mutations in SMARCAL1 gene have been reported to be the genetic etiology of SIOD, its molecular diagnosis has been challenging in a relatively proportion of cases due to the extreme rarity. Here, we made a definitive SIOD diagnosis of a 5-year-old girl with an extremely mild phenotype by applying whole-exome sequencing (WES). As a result, a novel maternal mutation (c.2141+5G>A) confirmed to create a novel splice donor site combined with a known paternal mutation (c.1933C>T; p.Arg645Cys) were detect...
Source: Frontiers in Genetics - Category: Genetics & Stem Cells Source Type: research
Noma is a rare disease, which is characterized by rapid progression and a high rate of mortality; however, relatively few cases of noma infection accompanied by septic shock in children have been described. Fu...
Source: BMC Pediatrics - Category: Pediatrics Authors: Tags: Case report Source Type: research
This article is protected by copyright. All rights reserved. PMID: 31206617 [PubMed - as supplied by publisher]
Source: Clinical Pharmacology and Therapeutics - Category: Drugs & Pharmacology Authors: Tags: Clin Pharmacol Ther Source Type: research
Josep Piulats Uveal melanoma is considered a rare disease but it is the most common intraocular malignancy in adults. Local treatments are effective, but the systemic recurrence rate is unacceptably high. Moreover, once metastasis have developed the prognosis is poor, with a 5-year survival rate of less than 5%, and systemic therapies, including immunotherapy, have rendered poor results. The tumour biology is complex, but angiogenesis is a highly important pathway in these tumours. Vasculogenic mimicry, the ability of melanomas to generate vascular channels independently of endothelial cells, could play an important ro...
Source: Cancers - Category: Cancer & Oncology Authors: Tags: Review Source Type: research
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
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