Report of the Consultation for a National Rare Disease Plan for Ireland

This report presents findings from the National Consultation on Rare Disease overseen by the Institute of Public Health in Ireland on behalf of the Department of Health to inform the development of Irelandâ?Ts first National Rare Disease Plan. In 2009, the Council of the European Union recommended that all member countries develop a national plan for rare diseases with the framework of their health and social systems by the end of 2013. The aim is to ensure that all patients with rare disease in Europe have access to high quality care, including diagnostics, treatments and rehabilitation.  Download the report here

Rabies - it can be a fatal bite

Rabies is a preventable disease, but it kills up to 55,000 people each year. Therefore on World Rabies Day, 28 September 2011, the Public Health Agency wants to raise awareness and understanding about the importance of seeking medical advice on whether the country or countries people are visiting require vaccination against this serious disease.Rabies is transmitted to humans mainly by the bite of an infected animal (commonly a dog, but can be spread by other mammals including cats and monkeys). It can also be spread through a scratch, or by the animal licking a cut or a wound and saliva from the infected animal getting into the eyes, mouth or nose. It is impossible to tell just by looking at an animal if they are infected, therefore while visiting other countries it is best to avoid touching animals, especially strays.Dr Michael Devine, Consultant in Health Protection, PHA, said: "Rabies is an acute viral infection which is almost certainly fatal. The infection causes inflammation of the brain and symptoms usually start 2-8 weeks after exposure. Early symptoms include headache, fever and anxiety; progressing to acute pain, violent uncontrolled movements, spasms of the swallowing muscles making it impossible to drink and respiratory failure."People may be used to thinking about rabies when they go to more exotic locations like Asia and Africa, but it can also be present closer to home, such as in some eastern European countries. So it is always best to play it safe and avoid animals, especially strays."Dr Devine continued: "If you are bitten by an animal while abroad it is important to clean the wound thoroughly with soap and water and seek medical attention immediately, even if you have been previously immunised, as treatment must be given to attempt to reduce the risk of developing the disease - treatment works best if initiated as soon as possible. Rabies vaccination is very effective - almost 100%. Booster doses may be required after one year and then every 2-5 years for those at continued risk."

The PHA message is clear for World COPD Day - smoking is bad for your lungs

In 2011, 31,574 people were registered as having Chronic Obstructive Pulmonary Disease (COPD) in Northern Ireland. The most common cause of COPD is smoking and to mark this year's World COPD day, which takes place on Wednesday 16 November, the Public Health Agency is encouraging all smokers to make a decision to stop smoking today and reduce their risk of developing the disease.COPD refers to a group of diseases which includes emphysema, chronic bronchitis, and in some cases asthma. With COPD, the airways in the lungs become damaged, causing them to become narrower, therefore restricting airflow and thus making it harder to breathe. The most common symptoms of COPD are breathlessness, wheezing, abnormal sputum (a mix of saliva and mucus in the airway), and a chronic cough often mistaken for a 'smokers' cough'. Symptoms can range from mild to severe, depending upon how advanced the disease is. In advanced cases, daily activities, such as walking up a short flight of stairs, can become very difficult.There is no cure for COPD. Stopping smoking is the single most effective wayto reduce your risk of developing COPD and avoid any further damage to the lungs. Gerry Bleakney, Head of Health and Social Wellbeing Improvement, PHA, said: "Smoking causes the lining of the airways to become inflamed and damaged and is the biggest cause of COPD. The risk of developing COPD increases the more an individual smokes and the longer they smoke. "The good news is that making changes to your lifestyle can reduce your risk of developing COPD. Stopping smoking reduces the risk of developing COPD and also slows down its progression. There is support available to help you quit and I would encourage everyone thinking about stopping smoking to log on to our Want 2 Stop website www.want2stop.info and order a 'Quit Kit' free of charge. Alternatively contact the Smokers' Helpline on 0808 812 8008 for help on planning to stop smoking or to find out where your nearest Stop Smoking Service is. "The Health Minister Edwin Poots said: "The impact of living with COPD can place a considerable strain on the lives of those suffering from the condition and their families. I understand that most smokers want to quit but it is not always easy to succeed and that several attempts are frequently necessary. I would therefore urge all smokers on world COPD day, to make that commitment to stop smoking. Professional help and support are readily available. There are almost 650 smoking cessation services provided all over Northern Ireland, mostly in community pharmacies, but also in GP surgeries, hospitals, community halls and schools."

Alzheimer's Disease Biomarkers, 2009

This report gives a comprehensive and up-to-date review of Alzheimer's disease biomarkers. Recent years have seen significant advances in this field. Whilst considerable effort has focused on A�_ and tau related markers, a substantial number of other molecules have been identified, that may offer new opportunities.This Report : Identifies 60 candidate Alzheimer's (AD) biomarkers and their associated studies. Of these, 49 are single species or single parameters, 7 are combinations or panels and 4 involve the measurement of two species or parameters or their ratios. These include proteins (n=34), genes (n=11), image-based parameters (n=7), small molecules (n=3), proteins + genes (n=2) and others (n=3). Of these, 30 (50%) relate to species identified in CSF and 19 (32%) were found in the blood. These candidate may be classified on the basis of their diagnostic utility, namely those which i) may allow AD to be detected when the disease has developed (48 of 75†= 64%), ii) may allow early detection of AD (18 of 75† = 24%) and iii) may allow AD to be predicted before the disease has begun to develop (9 of 75†= 12%). † Note: Of these, 11 were linked to two or more of these capabilities (e.g. allowed both early-stage detection as well as diagnosis after the disease has developed).Biomarkers: AD biomarkers identified in this report show significant diversity, however of the 60 described, 18 (30%) are associated with amyloid beta (A�_) and 9 (15%) relate to Tau. The remainder of the biomarkers (just over half) fall into a number of different groups. Of these, some are associated with other hypotheses on the pathogenesis of AD however the vast majority are individually unique and not obviously linked with other markers. Analysis and discussion presented in this report includes summaries of the studies and clinical trials that have lead to the identification of these markers. Where it has been calculated, diagnostic sensitivity, specificity and the capacity of these markers to differentiate patients with suspected AD from healthy controls and individuals believed to be suffering from other neurodegenerative conditions, have been indicated. These findings are discussed in relation to existing hypotheses on the pathogenesis of the AD and the current drug development pipeline. Many uncertainties remain in relation to the pathogenesis of AD, in diagnosing and treating the disease and many of the studies carried out to identify disease markers are at an early stage and will require confirmation through larger and longer investigations. Nevertheless, significant advances in the identification of AD biomarkers have now been made. Moreover, whilst much of the research on AD biomarkers has focused on amyloid and tau related species, it is evident that a substantial number of other species may provide important opportunities.Purpose of Report: To provide a comprehensive review of important and recently discovered candidate biomarkers of AD, in particular those with potential to reliably detect the disease or with utility in clinical development, drug repurposing, in studies of the pathogenesis and in monitoring drug response and the course of the disease. Other key goals were to identify markers that support current pipeline developments, indicate new potential drug targets or which advance understanding of the pathogenesis of this disease.Drug Repurposing: Studies of the pathogenesis of AD have identified aberrant changes in a number of other disease areas including inflammation, diabetes, oxidative stress, lipid metabolism and others. These findings have prompted studies to evaluate some existing approved drugs to treat AD. This report identifies studies of 9 established drug classes currently being investigated for potential repurposing.Alzheimer’s Disease: In 2005, the global prevalence of dementia was estimated at 25 million, with more than 4 million new cases occurring each year. It is also calculated that the number of people affected will double every 20 years, to 80 million by 2040, if a cure is not found. More than 50% of dementia cases are due to AD. Today, approximately 5 million individuals in the US suffer from AD, representing one in eight people over the age of 65. Direct and indirect costs of AD and other forms of dementia in the US are around $150 billion annually. Worldwide, costs for dementia care are estimated at $315 billion annually. Despite significant research into this debilitating and ultimately fatal disease, advances in the development of diagnostic tests for AD and moreover, effective treatments, remain elusive.Background: Alzheimer's disease is the most common cause of dementia, yet its clinical diagnosis remains uncertain until an eventual post-mortem histopathology examination is carried out. Currently, therapy for patients with Alzheimer disease only treats the symptoms; however, it is anticipated that new disease-modifying drugs will soon become available. The urgency for new and effective treatments for AD is matched by the need for new tests to detect and diagnose the condition. Uncertainties in the diagnosis of AD mean that the disease is often undiagnosed and under treated. Moreover, it is clear that clinical confirmation of AD, using cognitive tests, can only be made after substantial neuronal cell loss has occurred; a process that may have taken place over many years. Poor response to current therapies may therefore, in part, reflect the fact that such treatments are generally commenced only after neuronal damage has occurred. The absence of tests to detect or diagnose presymptomatic AD also means that there is no standard that can be applied to validate experimental findings (e.g. in drug discovery) without performing lengthy studies, and eventual confirmation by autopsy.These limitations are focusing considerable effort on the identification of biomarkers that advance understanding of the pathogenesis of AD and how the disease can be diagnosed in its early stages and treated. It is hoped that developments in these areas will help physicians to detect AD and guide therapy before the first signs of neuronal damage appears. The last 5-10 years have seen substantial research into the pathogenesis of AD and this has lead to the identification of a substantial number of AD biomarkers, which offer important insights into this disease. This report brings together the latest advances in the identification of AD biomarkers and analyses the opportunities they offer in drug R&D and diagnostics.��

Report of the Consultation for a National Rare Disease Plan for Ireland

This IPH report (2013) (prepared for the ROI Department of Health) presents findings from the National Consultation on Rare Disease overseen by the Institute of Public Health in Ireland on behalf of the Department of Health to inform the development of Ireland’s first National Rare Disease Plan. In 2009, the Council of the European Union recommended that all member countries develop a national plan for rare diseases with the framework of their health and social systems by the end of 2013. The aim is to ensure that all patients with rare disease in Europe have access to high quality care, including diagnostics, treatments and rehabilitation.