Friday, 22 August 2014

Report on the State of the Art of Rare Disease Activities in Europe – 2014

Rare diseases are diseases with a particularly low prevalence; the European Union considers diseases to be rare when they affect not more than 5 per 10 000 persons in the European Union. It is estimated that between 5 000 and 8 000 distinct rare diseases exist, estimated as affecting between 6% and 8% of the population in the course of their lives. In other words, although rare diseases are characterised by low prevalence for each of  them, the total number of people affected by rare diseases in the EU is estimated at between 27 and 36 million. Most of them suffer from less frequently occurring diseases affecting one in 100 000 people or less.

These patients are particularly isolated and vulnerable. The definition of a rare disease as having a prevalence of not more than 5 in 10 000 first appeared in EU legislation in Regulation (EC) N°141/2000 of the European Parliament and of the Council of 16 December 1999 on orphan medicinal products.

The Community action programme on rare diseases including genetic diseases for the period 1 January 1999 to 31 December 2003 then applied this definition to the field of public health.

Most rare diseases are genetic diseases, the others being rare cancers, auto-immune diseases, congenital
malformations, toxic and infectious diseases among other categories. Research on rare diseases has proved to be very useful to better understand the mechanism of common conditions such as obesity and diabetes, as
they often represent a model of dysfunction of a single biological pathway. However, research on rare diseases is not only scarce, but also scattered in different laboratories throughout the EU. The lack of specific health policies for rare diseases and the scarcity of expertise, translate into delayed diagnosis and difficult access to care. This results in additional physical, psychological and intellectual impairments, inadequate or even harmful treatments and loss of confidence in the health care system, despite the fact that some rare diseases are compatible with a normal life if diagnosed on time and properly managed. Misdiagnosis and non-diagnosis are the main hurdles to improving quality of life for thousands of rare disease patients.

The specificities of rare diseases, including a limited number of patients and scarcity of relevant knowledge and expertise, single them out as a distinctive domain of very high European added-value. European cooperation can help to ensure that scarce knowledge can be shared and resources combined as efficiently as possible, in order to tackle rare diseases effectively across the EU as a whole. The European Commission has already taken specific steps in many areas to address the issues of rare diseases. Building on those achievements, the Commission Communication on Europe's Challenges in the field of Rare Diseases (11 November 2008) and the Council Recommendation on an action in the field of rare diseases (08 June 2009) aim to give a clear direction to present and future Community activities in the field of rare diseases in order to further improve the access to and equity of prevention, diagnosis and treatment for patients suffering from a rare disease throughout the European Union.

Report on the state of the art of rare disease activities in Europe – 2014 edition (Part 1: Overview of rare disease activities in Europe)

Thursday, 21 August 2014

Aspergillus fumigatus: Wellcome Trust Image of the Week

Artists impression of Aspergillus fumigatus, painted by Peter Thwaites commissioned by the Medical Mycology and Fungal Immunology Consortium to promote medical mycology research and increase public understanding of the clinical importance of fungal infections.

The other aims of the Consortium, led by the Aberdeen Fungal Group at the University of Aberdeen and funded by a Wellcome Trust Strategic Award, are to promote cross disciplinary research across the UK, to build capacity in the medical mycology sector and to train a new generation of scientists from countries of low- and middle- income with high endemic burdens of fungal disease.

Full article

Wednesday, 20 August 2014

A Potential New Way to Attack Aspergillosis?

There has been notable success in the clinical application of a recent advance in cancer research whereby patients with Chronic Lymphoid Leukemia (CLL) have been treated with T cells that have been modified so as to target them directly at the cancer cells. T cells are an important part of our response to infection and help our bodies attack and destroy invading microbes or other foreign material.

The targeting is carried out by inserting a specific gene (Chimeric Antigen Receptors) into the T cells so as to enable the to recognise tumour specific cell surface proteins. Presumably the T cells can then recognise the cancer cells, attach to them and aid their destruction with high efficiency. Thus far we have tried this in two patients who have cancer and have achieved total remission of the cancer after 11 months. Remarkable!

Green fungal spore attacked by modified T cells

This new research group are now attempting the same thing but this time the targeted illness is not cancer but aspergillosis. They are using the same techniques but this time are guiding the T cells to the fungal cell wall and have had good success so far. They are not yet at the stage where they can start to treat 'real patients' but have released several videos (see link to paper above) that show cells attaching to the germinating fungus and killing it. The image above is a still from one of those videos - the green object in the middle is a germinating fungal spore which is surrounded by activated T cells that ultimately destroy it. Experiments in mice have also given positive results.

This may well result in a useful addition to our weaponry as we attack fungal infection - time will tell how effective it will be but we can speculate that combined with antifungal drugs that utilise different targets of attack we will have more chance of nullifying fungal infection in future.

Wednesday, 30 July 2014

Longitude Prize 2014: Antibiotic Action call for contributors!

 The 2014 Longitude Prize asked for a public vote on which of six challenges for the 21st century should receive a prize of £10 million to fund research work.


The winner was the proposal to help prevent the rise in antibiotic resistance within 5 years by finding a way to create a cheap, accurate, rapid and easy-to-use point of care test kit for bacterial infections.

To aid deliberations in advance of the call, The Longitude Prize Committee has announced an open call through to invite inventors, innovators and academics to help shape the criteria of the Longitude Prize for antibiotics.

Antibiotic Action encourages all to respond - we want to help the committee formulate a truly effective Prize.  You can contribute to the open review, which closes on 10 August 2014 by clicking here.

Tuesday, 29 July 2014

New Rapid Aspergillus-Specific Diagnostic Lateral Flow Device

Rapid diagnosis of invasive aspergillosis is important as the earlier treatment begins the better the eventual outcome. However early diagnosis is very problematic as amongst other things we breathe in Aspergillus and other fungal spores every day so an accurate test must be able to distinguish between those inactive spores (which are usually rapidly removed by our immune system) and actual invasive infection.

Existing techniques work well but this new test has several potential advantages:

  1. Very rapid - a drop of blood takes 15 mins to analyse 
  2. Very convenient - the test can be carried out 'at point of care' 
  3. Very cheap @ £10 per test 
  4. Highly specific to Aspergillus (so other fungi will not confuse the result)
  5. Does not rely on the response of the (often immunocompromised) patient's immune system

A new lateral flow device has been invented by Prof Chris Thornton of Exeter University , UK, to accurately diagnose invasive pulmonary aspergillosis. The affordable device uses a highly specific monoclonal antibody which detects a diagnostic marker of Aspergillus infection and uses a small blood sample.
Aspergillosis is a notoriously difficult disease to diagnose - affecting many immunosuppressed individuals such as cancer patients, transplant or HIV patients. Invasive aspergillosis is a principle cause of death in acute leukaemia and bone marrow transplant patients.
The new device costs just £10 is rapid and the compatibility of the device with hospital procedures, means that detection of aspergillosis can be accurately monitored at the point of care using either a blood sample or fluids collected during lung biopsy.There is also an ongoing trial with leukaemia patients at the Royal Devon and Exeter Hospital under the care of Consultant Haematologist Dr Paul Kerr.
A further benefit is that this new device specifically detects growing (and thus invasive) Aspergillus so results will not be confused with inhaled or otherwise non-growing fungal material.

Clinical trials are ongoing and there is no large quantity of data to demonstrate the efficacy of this test in the clinic but the early signs are very promising.

This lateral flow device will be available for use in hospitals around the world from August 2014.

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