Rare diseases day February 28th 2013 aims to raise awareness of rare diseases and their impact on people’s lives. These diseases have a cost, not just to the people affected and their families, but also in medical care, lost earnings, and to pay for research into improving diagnosis and treatment. Diseases are classified as… Read more »
Written by David Molyneux, Liverpool School for Tropical Medicine & Lorenzo Savioli, World Health Organisation Elephantiasis (filariasis), schistosomiasis, onchocerciasis (river blindness), dracunculiasis, neurocysticercosis – if you have heard of these diseases at all, you probably think of them as being rare diseases, but in all probability you’ve never heard of them or many other diseases… Read more »
Bohring-Opitz syndrome is a clinically heterogeneous developmental condition characterized by feeding difficulties, severe developmental delays, a smaller than average head circumference, and distinctive facial features and posture. It is estimated that around half of the individuals affected have de novo truncating mutations in the additional sex combs like 1 (ASXL1) gene. The ASXL gene family… Read more »
The Academy of Royal Medical Colleges called for action this week to tackle the obesity epidemic in the UK, which remains a very serious problem despite various awareness campaigns and proposed interventions. A quarter of adults and a third of primary school children are now overweight, and this figure is expected to double by 2050… Read more »
Much of this week’s headline news has focused on the increase in obesity in the UK with latest figures reporting around 25% of adults in the UK being diagnosed as clinically obese. Following the success of the London 2012 Olympics, the slogan ‘inspire a generation’ is hoped to help tackle the problem of obesity through… Read more »
Head and neck cancer is the sixth most common cancer worldwide, and head and neck squamous cell carcinoma (HNSCC) is the most frequent form. Certain subtypes of HNSCC, such as oropharyngeal carcinoma, are infected with human papillomavirus (HPV), and patients with these HPV-positive tumors have a better prognosis than patients without and respond better to… Read more »
The second most common form of dementia in younger people is the focus of a thematic series from Alzheimer’s Research & Therapy. Frontotemporal dementia (FTD) is a rare form of dementia that affects certain areas of the brain. The pathogenic genetic mutation responsible was only identified in 2011 and led to an avalanche of research… Read more »
Later this year, Genome Medicine will publish a special issue on the topic of Single cell analysis: into the clinic. This issue will highlight the rapid advances that have been made in the separation, detection and analysis of genomic and proteomic material in single cells and how this approach will inform our understanding and treatment… Read more »
Dementia is becoming a serious problem due to growth in the ageing population, and in the UK 820,000 people have the disease with Alzheimer’s disease being the most common cause of dementia. To address this, the Prime Minister’s challenge on dementia was launched last year to improve dementia care and research in the UK by… Read more »
Alzheimer’s Research & Therapy is newly affiliated to Alzheimer’s Disease International (ADI), the international federation of national Alzheimer organisations. ADI provides a global voice for dementia, empowering national Alzheimer associations to promote and offer services and support for people with dementia and their carers. ADI works globally to focus attention on the Alzheimer’s epidemic, by… Read more »