In this guest post for Rare Disease Day, Alastair Kent OBE, Director of Genetic Alliance UK and Chair of Rare Disease UK, looks at what’s been achieved for patients with rare diseases and how open access journals are playing their part.
For many years rare diseases (defined as those that affect fewer than 5 in 10,000 in the European Union) have been invisible. Patients and families affected by the 6,000 or more different rare diseases have been lost in the system, suffering the consequences of delayed diagnosis, misdiagnosis (often two or three times) and fragmentary, disjointed care.
Recent advances in research have changed this situation significantly. Increasingly there is the possibility of better care and management for affected …
This guest blog is written by Vera Unwin. With an MSc in Medical Parasitology and experience as a Parasitology Research Technician, Vera regularly writes for Bugbitten, our blog on parasites and vectors.
Insecticides are fundamental to vector control programs for vector borne diseases. Malaria is one of the most dangerous of these diseases, with an estimated 627,000 deaths per year. Reducing transmission by targeting mosquito populations is an integral strategy for controlling this disease. Such programs are heavily reliant on the use of insecticides- in the form of Insecticide Treated bed Nets (ITNS) and Indoor Residual Spraying (IRS)- to decrease mosquito populations and so lower transmission of the disease.
The widespread use of insecticides has inevitably …
Malaria is a life-threatening disease caused by parasites of the Plasmodium genus that are transmitted to people through the bites of infected mosquitoes. It is a leading cause of childhood morbidity and mortality worldwide, accounting for 7% of deaths in children younger than five years old.
Young children living in stable transmission areas are particularly at risk of malaria, since they have not yet developed protective immunity against the most severe forms of the disease. As clinical outcomes in this group can be poor, there is much interest in understanding what other factors contribute to a poor outcome in order to identify future targets for additional treatments.
Previous data had shown tentative indications that children infected with Plasmodium falciparum malaria …
If you had a condition that could be treated with a single operation that carries risks, or with a series of physiotherapy sessions, which has fewer risks but will take longer, which would you choose?
A post last week on our blogs looked at participatory medicine and what the meaning of ‘participation’ in this context is. Clearly, an element of patient participation is their ability to express a choice in the type of treatment they’re offered.
The choice is down to individual preference, personal needs, circumstances and motivation. These perspectives are becoming increasingly recognised by clinical and policy decision makers and should pave the way for improved patient satisfaction, in addition to outcome and cost-effectiveness of medical care.
This week, the National Institutes of Health (NIH), 10 biopharmaceutical companies and several non-profit organizations launched an unprecedented partnership to transform the current model for identifying and validating the most promising biological targets of disease for new diagnostics and drug development.
Currently in the US, developing a drug from early discovery through Food and Drug Administration (FDA) approval takes well over a decade and has a failure rate of more than 95%. As a consequence, each success can cost $1 billion or more. It was therefore recognised that new approaches were required, and that collaborative efforts might be a way to increase the collective odds of success.
Through the Foundation for the NIH, the Accelerating Medicines Partnership (AMP) will invest …
The news last month that genetic testing company 23andMe has suspended its marketing activities after intervention by the US Food and Drug administration (FDA) has again raised a related issue that’s been under debate now for several years. Should non-medically trained members of the public be offered the power to peer into their own genome?
Participatory medicine, where the patient is actively involved in their healthcare, is fast becoming a reality. The ideal of this new concept is that the clinician and patient are part of the same team, with patients feeling empowered by more available information, and taking a more active and responsible role.
In reality of course, things get a bit more complicated. For example, say I ordered …
One of my friends recently spent her birthday in hospital and the following week in a wheelchair. Nope, she wasn’t drunk – she had yet to touch a drop. She was wearing some killer heels, and fell down a flight of stairs…
The long-term impacts of high heels have been well documented. Frequent high heel wearers can expect strains to their legs and back, bunions (Victoria Beckham is a famous sufferer), ingrown toenails – the list is long and slightly gross.
But researchers in Victoria, Australia have been looking at a more dramatic health problem caused by high heels – the falls, and the trips to A&E that result from them. Their results have been published in the
The 2013 annual scientific meeting of the Canadian Society of Allergy and Clinical Immunology was held last month in Toronto, bringing together both Canadian and international experts from the allergy community. Covering both basic and clinical research, the conference was an important event for sharing knowledge amongst the specialists and researchers in attendance.
In addition to the traditional CSACI awards for best abstracts, this year’s conference was supported by AllerGen, who also ran their own poster competition for young researchers. AllerGen is the Allergy, Genes and Environment Network, one of Canada’s Networks of Centres of Excellence, and aims to promote collaboration between researchers, healthcare providers, industry, patient advocates and policy makers to improve the …
Two rarities seldom seen by Bostonians are the American Society of Human Genetics Annual Meeting (aka ASHG) and the baseball World Series. The former was last in Boston 60 years ago, in 1953 – the year of the double helix. The latter, a contest between grown men – as evidenced by a dazzling roster of beards – playing some sort of rounders derivative, has not been won on home turf by the city's Red Sox since 1918. But both events converged this year, with the geneticists of ASHG more than equal to the task of keeping all four bases covered. That is, the DNA bases A, C, G and T.
Mo' data, mo' solutions?
The most inventive session …
The AllTrials campaign (explained in a recent interview in our online magazine Biome) and books such as Ben Goldacre’s Bad Pharma have brought the issue of registration and reporting of clinical trials into the spotlight. The push for greater transparency continues to gain momentum. Recent discussions around the European Medicines Agency’s (EMA) proposal to proactively publish the information submitted to them as part of the standard marketing-authorisation application process has further brought the issue to the forefront. This data submitted to the EMA would be made available for independent reanalysis, after the EMA have completed their decision making process on the application.
Recently, BioMed Central attended a panel discussion organised by Oxbridge Biotech Roundtable (OBR) in which panellists, …