Editorial to the themed issue on application of pharmacometrics to the development of drugs for rare diseases

Source: Journal of Pharmacokinetics and Pharmacodynamics - Category: Drugs & Pharmacology Source Type: research

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In conclusion, the MLPA technique can detect mutations of the exon deletion and duplication type, yielding a larger number of molecular diagnoses due to alterations in the DMD gene. PMID: 31800942 [PubMed - in process]
Source: Revista Peruana de Medicina de Experimental y Salud Publica - Category: International Medicine & Public Health Tags: Rev Peru Med Exp Salud Publica Source Type: research
3DBio Therapeutics has won a unique designation from FDA. The New York-based company was granted a Rare Pediatric Disease designation for AuriNovo, an investigational combination product for reconstruction of the outer ear in patients with microtia. Microtia is a rare congenital disorder causing the outer ear (auricle) to be smaller than typical, misshapen, and sometimes missing at birth; most cases only affect one ear. The firm’s AuriNovo combination product incorporates the patient's own auricular cartilage cells into a 3D-bioprinted, living, full-sized ear construct designed to replace the patient's mi...
Source: MDDI - Category: Medical Devices Authors: Tags: Regulatory and Compliance Source Type: news
Join a major event on rare diseases in 2020: The RE(ACT) Congress and IRDiRC Conference, 11-14 March 2020, Berlin - Germany. Young and professional scientists, patients &patient representatives, and other rare diseases stakeholders are welcome to discuss latest cutting-edge research, innovation, and policy with the rare disease leaders. The scientific program -inspired by IRDiRC principles, achievements, and activities foreseen in 2020- encompasses topics like diagnosis &artificial intelligence, molecular etiology, innovative clinical trials, patient engagement and drugs for all. Blackswan Foundation and IRDiRC...
Source: EUROPA - Research and Innovation: Events - Category: Research Tags: Health - D72D1707-FE0F-3C39-4E55830C194C2E7C Information and Communication Technologies (ICT) - 20C389EF-F27F-C500-874F52AB1E2A3208 Life sciences - 7DB37216-D9A7-5F19-1F4B02B58D353C4B Horizon 2020 - 719491AD-9C69-558D-B05B8AC79345ED08 Environment Source Type: events
Authors: Amatya B, Khan F, Galea M Abstract The aim of this commentary is to discuss the rehabilitation perspective in the recently published Cochrane Review "Rehabilitation for people with multiple sclerosis: an overview of Cochrane Reviews" by Amatya, Khan &Galea11The abstract/plain language summary of this Cochrane Review is taken from a Cochrane Review previously published in the Cochrane Database of Systematic Reviews 2019, Issue 1, URL: http://dx.doi.org/10.1002/14651858.CD012732 (see www.cochranelibrary.com for information). Cochrane Reviews are regularly updated as new evidence emerges and in ...
Source: NeuroRehabilitation - Category: Rehabilitation Tags: NeuroRehabilitation Source Type: research
We report of a patient with metastatic penoscrotal extramammary Paget's disease, with an ERBB2S310F mutation, in which near complete response was achieved upon treatment with trastuzumab and carboplatin. However, after 10 cycles of trastuzumab and carboplatin, widespread metastasis re-occurred. Analysis of a newly developing metastasis revealed additional genomic alterations including ERBB3A232V and PIK3CAG106V point mutations as well as MET and CDK6 amplification, providing a potential mechanism of acquired treatment resistance. Therefore, ERBB family inhibitor afatinib was initiated. Unfortunately, the patient succumbed ...
Source: Oncotarget - Category: Cancer & Oncology Tags: Oncotarget Source Type: research
The patient visited Flinders Medical Centre, near Adelaide in Australia, for a routine appointment and doctors realised he had gangrene because of a condition which kills six out of 10 people who get it.
Source: the Mail online | Health - Category: Consumer Health News Source Type: news
Authors: Sosa DN, Derry A, Guo M, Wei E, Brinton C, Altman RB Abstract Millions of Americans are affected by rare diseases, many of which have poor survival rates. However, the small market size of individual rare diseases, combined with the time and capital requirements of pharmaceutical R&D, have hindered the development of new drugs for these cases. A promising alternative is drug repurposing, whereby existing FDA-approved drugs might be used to treat diseases different from their original indications. In order to generate drug repurposing hypotheses in a systematic and comprehensive fashion, it is essential to ...
Source: Pacific Symposium on Biocomputing - Category: Bioinformatics Tags: Pac Symp Biocomput Source Type: research
Publication date: Available online 4 December 2019Source: The Lancet Global HealthAuthor(s): Marc Arbyn, Elisabete Weiderpass, Laia Bruni, Silvia de Sanjosé, Mona Saraiya, Jacques Ferlay, Freddie BraySummaryBackgroundThe knowledge that persistent human papillomavirus (HPV) infection is the main cause of cervical cancer has resulted in the development of prophylactic vaccines to prevent HPV infection and HPV assays that detect nucleic acids of the virus. WHO has launched a Global Initiative to scale up preventive, screening, and treatment interventions to eliminate cervical cancer as a public health problem during th...
Source: The Lancet Global Health - Category: International Medicine & Public Health Source Type: research
Publication date: Available online 4 December 2019Source: Journal of Neuroscience MethodsAuthor(s): Bethany Freel, Jordan Sheets, Kevin FrancisAbstractDiscerning the underlying pathological mechanisms and the identification of therapeutic strategies to treat individuals affected with rare neurological diseases has proven challenging due to a host of factors. For instance, rare diseases affecting the nervous system are inherently lacking in appropriate patient sample availability compared to more common diseases, while animal models often do not accurately recapitulate specific disease phenotypes. These challenges impede re...
Source: Journal of Neuroscience Methods - Category: Neuroscience Source Type: research
AbstractPulmonary arterial hypertension is a rare disease, with drug-induced causes even more uncommon, accounting for only 10% of cases in large registry series. Predisposing factors for drug-induced PAH have not been completely defined. This review summarizes drugs with definite, possible, or likely association to pulmonary hypertension and possible mechanisms involved in the occurrence of pulmonary hypertension. Controversies on mechanisms and on their role in pathophysiology were also shown. The possible synergism between drug abuse and HIV was discussed and the possible interactions of antiretroviral therapy in HIV su...
Source: Cardiovascular Drugs and Therapy - Category: Cardiology Source Type: research
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