Yearly Archives: 2017

Cost-effectiveness of ERT in adult patients with Pompe disease

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The number of orphan drugs, i.e. drugs for rare diseases, is vastly growing. These drugs are often associated with high drug prices. Cost-effectiveness studies can be used to examine the ratio of incremental cost and effects of a new intervention. Tim Kanters and colleagues recently published a cost-effectiveness study of enzyme replacement therapy for adult patients with Pompe disease, an orphan disease, in Orphanet Journal of Rare Diseases.

Medicine

A better approach to talent identification?

Usain Bolt wins the men’s 100m final the Beijing Olympics, 2008

Identifying future Olympic champions at a young age is a difficult task, demanding an increasing amount of resources. New research published in Sports Medicine – Open discusses how physical adaptation to exercise is partially genetically mediated, meaning we may be able to identify individuals with the greatest capacity to improve through genetic profiling. Here, lead author Craig Pickering discusses what this means for talent identification programs.

Medicine

Rare variants of RAB10 gene could be key in Alzheimer’s disease resilience

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In the last decade several genetic risk factors for Alzheimer’s disease have been found by comparing cases with normal controls. Unfortunately discoveries of these gene variants have so far failed to lead to effective therapies. Now, in a research article published in Genome Medicine, researchers have taken the opposite approach by examining elderly people with a high risk of for Alzheimer’s disease who remain cognitively healthy. They find that rare variants in the RAB10 gene may provide protection from the disease.

Biology Medicine

Philosophy matters in medicine

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World Philosophy Day was introduced in 2002 by UNESCO, among other things, to raise public awareness of the importance of philosophy in the choices arising for many societies from the effects of globalization or entry into modernity. We decided to ask Prof. James Giordano and Prof. G. Kevin Donovan, Editors-in-Chief of the journal Philosophy, Ethics,… Read more »

Medicine