Podcast Extra: The search for a rare disease treatment

Nick Sireau ’s sons have a rare genetic disease called alkaptonuria, which can lead to body tissues becoming brittle, causing life long health issues.In this Podcast Extra, Geoff Marsh speaks to Nick and to the physician Dr Lakshminarayan Ranganath about their search for a treatment for alkaptonuria.
Source: Nature Podcast - Category: Science Authors: Source Type: podcasts

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Discussion Bardet-Biedl syndrome (BBS) is a rare disorder. It is usually considered an autosomal recessive disorder but there is significant intra-familial variability. There are multiple genes (~20 currently) involved and it is believed that the phenotypic variability is due to “…differences in the total mutational load across different BBS associated genes….” It is a ciliopathy where mutation changes in proteins in the cilias causes problems in the cilia’s functioning particularly signaling. Cilia are important in signaling to maintain tissue and cellular homeostasis. Obviously screening o...
Source: PediatricEducation.org - Category: Pediatrics Authors: Tags: Uncategorized Source Type: news
This study presents two Chinese siblings with a rare neurodevelopmental disorder (NDD) caused by biallelicINTS1 mutations and investigates the clinical features of this disease by means of in silico analysis. Two siblings, an 11-year-old brother and a 5-year-old sister, visited our hospital due to physical retardation and profound intellectual disability. Whole-exome sequencing (WES) was performed for the girl, and Sanger sequencing was used to validate the identified variants. Phenotype correlation analysis and in silico genetic interaction network analysis were performed to investigate genes that could lead to diseases s...
Source: Journal of Molecular Neuroscience - Category: Neuroscience Source Type: research
CONCLUSION: The analysis shows that patients with complex and a wide range of disease entities presented at our outpatient clinic of plastic- and aesthetic surgery. The variety of diagnoses requires not only extensive specialized expertise, but also broad medical knowledge in order to reach adequate treatment strategies. The setting of complex as well as a broad spectrum of diseases of the university outpatient clinic is thus particularly suitable for teaching of differential diagnoses, diagnostic algorithms and development of treatment strategies during medical training and student education. PMID: 31412389 [PubMed - in process]
Source: Handchirurgie Mikrochirurgie Plastische Chirurgie - Category: Cosmetic Surgery Tags: Handchir Mikrochir Plast Chir Source Type: research
Hypophosphatasia (HPP) is a rare, inherited, metabolic bone disease caused by deficient tissue-non-specific isoenzyme of alkaline phosphatase activity that manifests as a broad range of signs/symptoms, includi...
Source: Orphanet Journal of Rare Diseases - Category: Internal Medicine Authors: Tags: Research Source Type: research
AbstractHuman germline genome editing may prove to be especially poignant for members of the rare disease community, many of whom are diagnosed with monogenic diseases. This community lacks broad representation in the literature surrounding genome editing, notably in Canada, yet is likely to be directly affected by eventual clinical applications of this technology. Although not generalizable, the literature does offer some commonalities regarding the experiences of rare disease patients. This manuscript seeks to contribute to the search for broader societal dialogue surrounding human germline genome editing by exploring so...
Source: Journal of Community Genetics - Category: Genetics & Stem Cells Source Type: research
We report a case of pelvic actinomycosis mimicking ovarian malignancy diagnosed postoperatively. Preoperative diagnosis is possible if there is a high index of suspicion, obviating extensive surgery and preserving fertility, since long term antibiotic treatment can be completely effective. Pelvic actinomycosis should be included in the differential diagnosis of women presenting a pelvic mass, especially if there is intrauterine device use history.Resumo A coloniza ção assintomática do aparelho genital feminino por Actinomyces spp não é infrequente, sobretudo em utilizadoras de dispositivo...
Source: Revista Brasileira de Ginecologia e Obstetricia - Category: OBGYN Source Type: research
Publication date: October 2019Source: Molecular Immunology, Volume 114Author(s): Jutta Schröder-Braunstein, Michael KirschfinkAbstractComplement defects are associated with an enhanced risk of a broad spectrum of infectious as well as systemic or local inflammatory and thrombotic disorders. Inherited complement deficiencies have been described for virtually all complement components but can be mimicked by autoantibodies, interfering with the activity of specific complement components, convertases or regulators. While being rare, diseases related to complement deficiencies are often severe with a frequent but not exclu...
Source: Molecular Immunology - Category: Allergy & Immunology Source Type: research
Professor Michael Larsen, who is a member of the ERN-EYE Ontology Study Group and co-chair of Workgroup on Retinal Rare Eye Diseases (WG1), was inadvertently omitted from the author list in the Acknowledgement...
Source: Orphanet Journal of Rare Diseases - Category: Internal Medicine Authors: Tags: Correction Source Type: research
The original version of this article [1] unfortunately included an error to an author ’s name. Author Jordi Díaz-Manera was erroneously presented as Jorge Alberto Diaz Manera. The correct author name has been i...
Source: Orphanet Journal of Rare Diseases - Category: Internal Medicine Authors: Tags: Correction Source Type: research
Authors: Engkasan JP Abstract The aim of this commentary is to discuss in a rehabilitation perspective the recently published Cochrane Review "Vitamin D for the management of multiple sclerosis" by Jagannath et al. (2018)1 under the direct supervision of Cochrane Multiple Sclerosis and rare diseases of the CNS Group. This Cochrane Corner is produced in agreement with NeuroRehabilitation by Cochrane Rehabilitation. PMID: 31403951 [PubMed - as supplied by publisher]
Source: NeuroRehabilitation - Category: Rehabilitation Tags: NeuroRehabilitation Source Type: research
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