Organs-on-Chips as Tools for Predictive Efficacy and Toxicology Assessment of Therapeutics & The NIH Genetic Testing Registry

Organs-on-Chips as Tools for Predictive Efficacy and Toxicology Assessment of Therapeutics &The NIH Genetic Testing RegistryPresented by: Office of Rare Diseases Research, the National Eye Institute, National Institute of Mental Health, and the NIH Office of DirectorCategory: BiospecimensAired date: 04/04/2013
Source: Videocast - All Events - Category: Journals (General) Tags: Past Events Source Type: video

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Conclusions: Definitive histopathological diagnosis and subsequent appropriate therapy, such as steroid administration, are required when LCH lesions in the hypothalamus become progressively enlarged and new lesions appear in the brain parenchyma. PMID: 30450262 [PubMed]
Source: Surgical Neurology International - Category: Neurosurgery Tags: Surg Neurol Int Source Type: research
Backpack Health, a health-tech company based in Boston, has partnered with two organizations specializing in rare diseases, Care Beyond Diagnosis and FYMCA Medical, to bring their mobile and cloud-based health management application to patients ...
Source: Medgadget - Category: Medical Devices Authors: Tags: Exclusive Medicine Net News Pediatrics Public Health Source Type: blogs
The National Cancer Institute awarded a five-year, $10.7 million grant to the Abramson Cancer Center at the University of Pennsylvania to develop CAR T-cell therapy for mesothelioma and lung cancer. The hopes are high for a breakthrough. The program involves a laboratory modification of a patient’s T cells — a type of white blood cell — that prompts the immune system to attack cancer cells. The therapy also is known as chimeric antigen receptor T-cell therapy. It already is revolutionizing the way some blood and bone marrow cancers are treated. The grant is designed to investigate whether this type of gen...
Source: Asbestos and Mesothelioma News - Category: Environmental Health Authors: Source Type: news
STOCKHOLM, Nov 20, 2018 -- (Healthcare Sales &Marketing Network) -- Swedish Orphan Biovitrum AB (publ) (SobiĀ™) (STO: SOBI), an international biopharmaceutical company dedicated to rare diseases, and Novimmune SA, a Swiss biotech company, today announce t... Biopharmaceuticals, FDA Swedish Orphan Biovitrum, Gamifant, emapalumab, Lymphohistiocytosis
Source: HSMN NewsFeed - Category: Pharmaceuticals Source Type: news
Not too many years ago many, practicing allergists viewed primary immunodeficiency disorders (PIDD) as a group of rare diseases with unknown underlying genetic defects, which were diagnosed based primarily on clinical presentation combined with rudimentary laboratory testing. With few exceptions, available treatments were unsatisfactory as well. In fact, despite realizing that real patients were suffering from these diseases, for many of us the world of PIDD was primarily of interest as a way of helping us understand how the immune system works.
Source: Immunology and Allergy Clinics of North America - Category: Allergy & Immunology Authors: Tags: Foreword Source Type: research
There is now an international partnership to establish global programs for patients with rare and undiagnosed diseases, involving interdisciplinary expert panels and phenotype-driven genetic analyses utilizing...
Source: Orphanet Journal of Rare Diseases - Category: Internal Medicine Authors: Tags: Research Source Type: research
AbstractTwin and genealogy studies suggest a strong genetic component of nephrolithiasis. Likewise, urinary traits associated with renal stone formation were found to be highly heritable, even after adjustment for demographic, anthropometric and dietary covariates. Recent high-throughput sequencing projects of phenotypically well-defined cohorts of stone formers and large genome-wide association studies led to the discovery of many new genes associated with kidney stones. The spectrum ranges from infrequent but highly penetrant variants (mutations) causing mendelian forms of nephrolithiasis (monogenic traits) to common but...
Source: Urolithiasis - Category: Urology & Nephrology Source Type: research
We report two cases of ligneous conjunctivitis, describing various presentations of its natural history and focusing on the treatment of this rare disease. PMID: 30442487 [PubMed - as supplied by publisher]
Source: Journal Francais d Ophtalmologie - Category: Opthalmology Tags: J Fr Ophtalmol Source Type: research
CONCLUSIONS: The patient is molecularly and clinically diagnosed with type 1 LCH, which is caused by novel, compound heterozygous variants of the LHCGR gene. This report expanded the genotypic spectrum of LHCGR variants. PMID: 30444213 [PubMed - as supplied by publisher]
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research
We describe the retinal and choroidal angiographic features of this case by optical coherence angiography.
Source: Indian Journal of Ophthalmology - Category: Opthalmology Authors: Source Type: research
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