Alzheimer’s break-through in Cardiff

Julie Williams asks why mental health remains the poor relation in medical research funding

Ignored and misunderstood, mental illness, remains one of the key health questions yet to be answered. Poor mental health affects some 16.7 million people in the UK today. And, according to a report prepared for the All-Wales Mental Health Promotion Network the total annual cost to the Welsh economy is a staggering £7.2 billion. In this new ‘age of austerity’ is it really an illness that we can continue to ignore?

As a society we draw inspiration from the achievements of medical science in tackling diseases like cancer and heart disease. However, when it comes to our understanding and treatment of diseases of the brain we lag behind.

Covering the full lifespan – from autism and attention-deficit hyperactivity disorder in children, to psychiatric disorders such as schizophrenia and bipolar disorder in adults, to neuro-degenerative disorders like Alzheimer’s, Huntington’s and Parkinson’s in the elderly, mental illness will surely affect us, our family or friends during our lifetime.

Improving care and treatment for people with mental health problems requires the same rigorous research as demanded for tackling physical illness. Yet, despite the huge burden that poor mental health represents to society, mental health research remains incredibly under-funded. Only 5 per cent of medical research in the UK is into mental health, despite 15 per cent of disability resulting from disease being due to mental illness.

However, Wales is playing its part. Welsh universities are key players with my own, Cardiff University, already recognised as a world-leader in identifying the genetic origins of such diseases as schizophrenia, bipolar disorder and Alzheimer’s disease.

At the last Research Assessment Exercise, Cardiff University ranked among the very best in the UK for Psychology, Psychiatry and Neurology and Clinical Psychology. In my own area of research, we’ve secured widespread recognition for the largest-ever joint Alzheimer’s disease genome-wide association study (see Panel) involving 16,000 individuals. The study, published in Nature Genetics, uncovered two new genes associated with Alzheimer’s disease.

Genome-wide association study

This is an examination of genetic variation across a given genome, designed to identify genetic associations with observable traits. In human studies, this might include traits such as blood pressure or weight, or why some people get a disease or condition.

The completion of the Human Genome Project in 2003 made it possible to find the genetic contributions to common diseases and analyse whole-genome samples for genetic variations that contribute to their onset.

These studies normally require two groups of participants: people with the disease (cases) and similar people without (controls). After genotyping each participant, the set of markers, or DNA sequence variations, are scanned into computers. Then bioinformatics (the application of statistics and computer science to molecular biology) is applied to survey participants’ genomes for markers of genetic variation.

If genetic variations are more frequent in people with the disease, the variations are said to be ‘associated’ with the disease. The associated genetic variations are then considered as pointers to the region of the human genome where the disease-causing problem is likely to reside. Since the entire genome is analysed for the genetic associations of a particular disease, this technique allows the genetics of a disease to be investigated in a non-hypothesis-driven manner.

Previously only one gene, APOE4, had been shown to be a risk factor for Alzheimer’s disease. The study revealed, for the first time, that two further genes, CLU and PICALM, are related to Alzheimer’s disease. More recently, as part of an international collaboration of scientists, we’ve uncovered evidence for four additional susceptibility genes for Alzheimer’s, opening up new avenues for research into the disease.

Two of the new susceptibility genes regulate how large molecules are taken into and are transported within cells. Together they highlight a process that was not previously known to be involved in Alzheimer’s disease. Others support the involvement of cholesterol processing and inflammation in the brain, as triggers of disease. This is exciting news as it gives us new lines of enquiry.

This research provides valuable new leads in the race to find treatments and possibly cures for the devastating conditions. We have a responsibility to do more – but, this can only be achieved if we are given the opportunity and more importantly, the funding necessary to take our research to the next level. Last month, a review by the Medical Research Council, the UK’s major research funder, showed that UK-funded mental health research is world-class and that we are well-placed to lead the way in this area.

The review concludes that there are several opportunities to fund more research that would help accelerate progress in developing new treatments, or lead to better ways of preventing mental illness in the first place. We at Cardiff University are committed to this challenge.

In June we launched the new Neuroscience and Mental Health Research Institute draws together expertise from across the University – from medicine, psychology, biosciences and optometry to take new discoveries and translate them into greater understanding and diagnosis of mental illness.

Under the Directorship of Professor Mike Owen, who also leads Wales’ first Centre for Neuropsychiatric Genetics and Genomics, this means putting the breakthroughs I’ve described to work to help establish Cardiff University and Wales among the very best of the world’s universities in this field.

Finding better ways to treat – or preferably prevent – poor mental health as early as possible will bring enormous benefits to individuals, their families and society as a whole. It was the Welsh icon Aneurin Bevan who talked of the “language of priorities”. When it comes to mental health research, his words are as relevant today as they were when he first uttered them all those years ago.

Austere times require us to identify our priorities, to direct our finite resources at what will help us achieve the most. Research funding is no different and must mean targeting research at what is most likely to help.  Many other areas of research are important, yet in the medical field mental health research is last in the queue. Can this be justified when an estimated one in four people will experience a mental health problem this year? That is substantially more people than will have a heart attack. Yet twice as much research goes into heart disease than is carried out in mental health.

Over the coming months, Cardiff University’s new Research Institute will develop new projects to help build on our existing work. The strength and success of our research and activities will be rightly judged on what impact it has on people’s lives. Our aim is extremely ambitious: to translate the breakthroughs in fundamental science into improved diagnosis and treatment of brain diseases affecting people from childhood to old age.

The Neuroscience and Mental Health Research Institute will help consolidate Cardiff University’s position as an international leader in the field of neuroscience and mental health research. However, in an ever increasing age of priorities and dwindling resources is our work a priority that our decision makers and funders will share?

This article first appeared in the current Summer 2010 issue of the IWA’s journal Agenda, and also appears in today’s Western Mail.

Julie Williams is Professor of Neuropsychological Genetics at Cardiff University.

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