Monthly Archives: February 2013

What is the cost of rare diseases?

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 »


Not so rare, rare diseases

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 »

Developing World Medicine

Not a mixed bag: redefining syndromes associated with ASXL gene mutations


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 »


Understanding HPV-positive carcinoma for better outcomes

Genome Medicine

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 new FTD mutation on chromosome 9

Alz Research and Therapy

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 »


Making dementia a global health priority

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 »