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Orphan Drugs Research

15:52 EST 21st January 2020 | BioPortfolio

Annual skin check: examining the dermatology headlines of 2019.

As the calendar year comes to an end, this article reviews unique issues in dermatology that made the news in 2019: chemical sunscreen, the measles outbreak, drug approvals for pediatric dermatology and orphan diseases, and recalls of popular skin care products.

Anaesthesia and orphan disease: Tracheal reconstruction in two children with Morquio disease.

Anaesthesia and orphan disease: A 2-year-old with neuronal ceroid lipofuscinosis.

Anaesthesia and orphan disease: A child with incontinentia pigmenti.

Novel approaches leading towards peptide GPCR deorphanisation.

The discovery of novel ligands for orphan G protein-coupled receptors (GPCRs) has had a profound impact on our understanding of human biology, opening new opportunities for research, and ultimately for therapeutic development. Accordingly, enormous efforts have been directed towards the remaining orphan receptors, yet the rate of GPCR deorphanisation has slowed in recent years. Here, we briefly re...

Withdrawal: Orphan nuclear receptor Nur77 induces zinc finger protein gene expression, and GIOT-1 acts as a novel corepressor of orphan nuclear receptor SF-1 via recruitment of HDAC2.

Loss of RAR-related orphan receptor alpha (RORα) selectively lowers docosahexaenoic acid in developing cerebellum.

Deficiency in retinoid acid receptor-related orphan receptor alpha (RORα) of staggerer mice results in extensive granule and Purkinje cell loss in the cerebellum as well as in learned motor deficits, cognition impairments and perseverative tendencies that are commonly observed in autistic spectrum disorder (ASD). The effects of RORα on brain lipid metabolism associated with cerebellar atrophy re...

Effective altruism as an ethical lens on research priorities.

Effective altruism is an ethical framework for identifying the greatest potential benefits from investments. Here we apply effective altruism concepts to maximize research benefits, in terms of priority stakeholders, pathosystems, and research questions and technologies. Priority stakeholders for research benefits may include smallholder farmers who have not yet attained the minimal standards of t...

Ligand-Based Design of Allosteric Retinoic Acid Receptor-Related Orphan Receptor γt (RORγt) Inverse Agonists.

Retinoic acid receptor-related orphan receptor γt (RORγt) is a nuclear receptor associated with the pathogenesis of autoimmune diseases. Allosteric inhibition of RORγt is conceptually new, unique for this specific nuclear receptor, and offers advantages over traditional orthosteric inhibition. Here, we report a highly efficient in silico-guided approach that led to the discovery of novel allost...

Targeting ROR1 in combination with pemetrexed in malignant mesothelioma cells.

Receptor tyrosine kinase-like orphan receptor 1 (ROR1) is overexpressed in a subset of malignant cells. However, it remains unknown whether ROR1 is targetable in malignant mesothelioma (MM). Therefore, in this study, we investigated the effects of ROR1 inhibition in mesothelioma cells.

Clinical and genetic spectrum of an orphan disease MPAN: a series with new variants and a novel phenotype.

Pathogenic variations in C19orf12 are responsible for two allelic diseases: mitochondrial membrane protein-associated neurodegeneration (MPAN); and spastic paraplegia type 43 (SPG43). MPAN is an orphan disease, which presents with spasticity, dystonia, peripheral nerve involvement, and dementia. The pattern of iron accumulation on brain MRI may be a clue for the diagnosis of MPAN. SPG43, on the ot...

Mediator MED23 regulates inflammatory responses and liver fibrosis.

Liver fibrosis, often associated with cirrhosis and hepatocellular carcinomas, is characterized by hepatic damage, an inflammatory response, and hepatic stellate cell (HSC) activation, although the underlying mechanisms are largely unknown. Here, we show that the transcriptional Mediator complex subunit 23 (MED23) participates in the development of experimental liver fibrosis. Compared with their ...

Drug Development for Rare Paediatric Epilepsies: Current State and Future Directions.

Rare diseases provide a challenge in the evaluation of new therapies. However, orphan drug development is of increasing interest because of the legislation enabling facilitated support by regulatory agencies through scientific advice, and the protection of the molecules with orphan designation. In the landscape of the rare epilepsies, very few syndromes, namely Dravet syndrome, Lennox-Gastaut synd...

Incidence of acquired thrombotic thrombocytopenic purpura in Germany: a hospital level study.

Acquired thrombotic thrombocytopenic Purpura (aTTP) is a life-threatening ultra-orphan disease with a reported annual incidence between 1.5 and 6.0 cases per million in Europe and mainly affecting otherwise young and healthy adults aged 40 years on average. The goal of this study was to assess the incidence of aTTP in Germany.

An iatrogenic orphan?

Evaluation of quantitative signal detection in EudraVigilance for orphan drugs: possible risk of false negatives.

Different strategies have been studied to allow a better characterization of the safety profile of orphan drugs soon after their approval. At the end of the development phases only few data are available because of the small number of subjects exposed to an orphan medicine for the treatment of rare or ultra-rare conditions. As a consequence, the evaluation of the safety profile is limited at the t...

Juvenile hormone interacts with multiple factors to modulate aggression and dominance in groups of orphan bumble bee (Bombus terrestris) workers.

Juvenile hormone (JH) is a key regulator of insect development and reproduction. Given that JH commonly affects adult insect fertility, it has been hypothesized to also regulate behaviors such as dominance and aggression that are associated with reproduction. We tested this hypothesis in the bumble bee Bombus terrestris for which JH has been shown to be the major gonadotropin. We used the allatoxi...

Variation in US private health plans' coverage of orphan drugs.

To compare coverage of orphan and nonorphan drugs, to examine variation in orphan drug coverage across the largest US private plans, and to evaluate factors influencing coverage decisions.

Cholesteryl ester storage disease: endoscopic findings of an orphan disease.

Reducing Health Care Disparities in Sickle Cell Disease: A Review.

Sickle cell disease (SCD) is an inherited blood disorder most common among African American and Hispanic American persons. The disease can cause substantial, long-term, and costly health problems, including infections, stroke, and kidney failure, many of which can reduce life expectancy. Disparities in receiving health care among African Americans and other racial/ethnic minority groups in the Uni...

Fool Me Twice? The Reemergence of Rofecoxib and the Orphan Drug Act.

Expression of CYP2S1 and CYP2W1 in breast cancer epithelial cells and modulation of their expression by synthetic methoxy stilbenes.

"Orphan" cytochromes are a new group of P450 cytochromes without a fully recognized biological role. The expression of these CYPs in tumors is higher than that in normal tissues, which makes them attractive as chemopreventive and/or therapeutic targets. In this study, we compared the effect of synthetic methoxy stilbenes and resveratrol on the expression of two orphan cytochromes, CYP2S1 and CYP2W...

Unraveling the functional role of the orphan solute carrier, SLC22A24 in the transport of steroid conjugates through metabolomic and genome-wide association studies.

Variation in steroid hormone levels has wide implications for health and disease. The genes encoding the proteins involved in steroid disposition represent key determinants of interindividual variation in steroid levels and ultimately, their effects. Beginning with metabolomic data from genome-wide association studies (GWAS), we observed that genetic variants in the orphan transporter, SLC22A24 we...

Orphan G-protein coupled receptor 183 (GPR183) potentiates insulin secretion and prevents glucotoxicity-induced β-cell dysfunction.

The expression and functional impact of most expression orphan G-protein coupled receptors (GPCRs) in β-cell is not fully understood. Microarray expression indicated that 36 orphan GPCRs are restricted in human islets, while 55 receptors overlapped between human islets and INS-1 cells. GPR183 showed higher expression in diabetic compared to non-diabetic human islets. GPR183 expression co-locali...

A fully chimeric IgG antibody for ROR1 suppresses ovarian cancer growth in vitro and in vivo.

Over-expression of Receptor-tyrosine-kinase-like Orphan Receptor 1 (ROR1) in cancer cells has been reported in the context of several tumors (including ovarian cancer) and is associated with poor prognosis. The aim of this study was to construct a fully chimeric anti-ROR1 IgG antibody (ROR1-IgG) and investigate its antitumor activity against ovarian cancer cells, bothin vitro and in vivo.

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