Recently the BBC reported the story of a Scottish woman who astonished doctors with her ability to detect Parkinson's disease through smell. She first noticed the "musky" smell on her husband Les, who was years later diagnosed with Parkinson's disease.
Joy Milne worked with the University of Manchester on the research for three years, and has been named in a paper being published in the journal ACS Central Science.
The research revealed that a number of compounds, particularly hippuric acid, eicosane, and octadecanal, were found in higher than usual concentrations on the skin of Parkinson's patients. They are contained in sebum - the oily secretion that coats everybody's skin, but which is often produced in greater quantity by people with Parkinson's, making them more likely to develop a skin complaint called seborrheic dermatitis.
In blinded smell tests on t-shirts worn by volunteers, some of whom had Parkinson’s disease, Joy correctly identified sufferers 100% correctly. One in 500 people in the UK has Parkinson's and that rises to about one in 100 among the over-60s. It can leave them struggling to walk, speak and sleep.
Currently there is no cure and no definitive test for the disease, with clinicians diagnosing patients by observing symptoms. Through earlier diagnosis it is hoped that treatments can be developed to prevent the disease spreading, preventing further damage to the brain.
There’s also hope for improved detection and diagnosis in other disease areas. Currently, Owlstone Medical are running the world’s largest-ever breath biomarker trial, funded by the NHS and made up of 4,000 patients, to identify markers for the early detection of lung cancer. They’re also identifying breath-based biomarkers that can reveal how drugs work in the body, to help pharmaceutical companies create more effective, targeted treatments.
Lung cancer is the most common cancer worldwide, with around 1.8m cases and 1.6m deaths each year. It has one of the lowest 5-year survival rates of all cancers, at just 10%. However, early diagnosis can greatly improve the clinical outlook.
Patients diagnosed at Stage 1 have a 36% 5-year survival rate. Current diagnostic procedures, which include a chest x-ray or CT scan, followed by bronchoscopy, thoracoscopy or mediastinoscopy, are costly and not without risks of their own. As such, the potential benefits of a low-cost, non-invasive means of providing early diagnoses are clear.
Studies have already suggested that it may be possible to identify patients with lung cancer by the presence of certain carbonyls (aldehydes and ketones) in their breath. The trial seeks to the accuracy and reliability of breath diagnostic methods using these and other biomarkers.
Other companies are turning to more unconventional sources of information to diagnose disease. Research shows that voice, in particular, can be a powerful predictive tool for early signs of Alzheimer’s, because purpose-built technologies can detect altered speech patterns that are a precursor to the disease. Similarly, IBM has paired up with university researchers to develop artificially intelligent programmes that can analyse syntax and semantics in speech, to predict the onset of psychosis in patients.
Companies like Israel-based VoiceSense are building analytical technologies to identify unique signatures in the pace, intonation, and breathing patterns of our speech, to draw up a profile of an individual’s emotional state. This company says that their approach could help to predict the likelihood that someone is experiencing depression, post-traumatic disorder or substance abuse.
There’s some exciting advances underway in the treatment of disease, however some of the most exciting, and effective, developments are in the improvement of disease detection.
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