Undated handout photo of Joy Milne, who smells Parkinsons. Scientists have harnessed the power of her hyper-sensitive sense of smell to develop a test to determine whether people have Parkinson’s disease. Issue date: Wednesday September 7, 2022.

A woman who can ‘smell Parkinson’s disease’ helps scientists come up with a breakthrough diagnostic test

A woman who could “smell Parkinson’s disease” has helped scientists develop a test that detects the disease.

The test took years to prepare after academics realized Joy Milne could smell the disease.

The 72-year-old from Perth, Scotland, suffers from a rare condition which gives her an heightened sense of smell.

She noticed that her late husband Les developed a different smell when he was 33 – about 12 years before he was diagnosed with the disease – which gradually damaged parts of the brain over many years.

Ms Milne, dubbed ‘the woman who can smell Parkinson’s’, described a ‘musky’ aroma, different from her normal smell.

Her sighting piqued the interest of scientists, who set out to research what she could smell and whether it could be exploited to help identify people with the neurological condition.

Years later, academics at the University of Manchester have made a breakthrough by developing a test that can identify people with Parkinson’s disease using a simple cotton swab swiped along the back of the neck.

Image:
Joy and Les Milne

Possible NHS deployment

Researchers can examine the sample to identify disease-related molecules to help diagnose if someone has the disease.

Although still in the early stages of research, scientists are excited at the prospect of the NHS being able to roll out a simple test for the disease.

There is currently no definitive test for Parkinson’s disease, with a diagnosis based on the patient’s symptoms and medical history.

If the new skin swab is successful outside of laboratory conditions, it could be deployed to expedite diagnosis.

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Ms Milne said it was “not acceptable” for people with Parkinson’s to have such a high degree of neurological damage at the time of diagnosis.

“I think it needs to be detected much earlier – like cancer and diabetes,” she said. “Earlier diagnosis means much more effective treatment and a better way of life for people.”

She added: “It has been found that exercise and dietary change can make a phenomenal difference.”

She said her husband, a former doctor, was “determined” to find the right researcher to examine the link between the smell and Parkinson’s disease, and they sought out Dr Tilo Kunath at the University of Edinburgh in 2012.

sniff t-shirts

Dr Kunath teamed up with Professor Perdita Barran to examine Ms Milne’s sense of smell.

Scientists thought the smell could be caused by a chemical change in skin oil, known as sebum, triggered by the condition.

In their preliminary work, they asked Ms Milne to smell the t-shirts worn by people with Parkinson’s and those without.

Ms Milne correctly identified the t-shirts worn by patients with Parkinson’s disease, but she also said that one person in the group of people without Parkinson’s disease smelled like the disease – eight months later the person wearing t-shirt was diagnosed with Parkinson’s disease.

The researchers hoped the discovery could lead to the development of a test to detect Parkinson’s disease, assuming that if they were able to identify a unique chemical signature in the skin linked to Parkinson’s disease , they could possibly diagnose the disease from simple skin swabs.

In 2019, researchers from the University of Manchester, led by Professor Barran, announced that they had identified molecules linked to the disease found in skin swabs.

And now scientists have developed a test using this information.

The right treatment faster

The tests have been successfully conducted in research laboratories and evaluations are underway to determine if they can be used in a hospital setting.

If successful, the test could potentially be used in the NHS so that GPs can refer patients for testing for Parkinson’s disease.

The findings, which were published in the Journal of the American Chemical Society, detail how sebum can be analyzed with mass spectrometry – a method that weighs molecules – to identify disease.

Some molecules are only present in people with Parkinson’s disease.

The researchers compared swabs from 79 people with Parkinson’s disease with a healthy control group of 71 people.

More than 10 million people worldwide live with Parkinson’s disease, including a musician Ozzy Osbournecomedian Sir Billy Connolly and actor Michael J. Foxdiagnosed at age 29.

Degenerative disease is the fastest growing neurological disease in the world. He has a variety of symptoms, including tremors – especially in the hands – walking and balance problemsslowness and extreme stiffness of the arms and legs.

Professor Barran said there is currently no cure, but a confirmatory diagnosis would allow patients to get the right treatment and medication faster.

Sir Billy Connolly pictured in 2019
Image:
Sir Billy Connolly lives with Parkinson’s disease

Read more:
Scientists take ‘vital step’ towards finding a cure for Parkinson’s disease

She said exercise and nutritional changes would also be advised, but “more importantly it will allow them to have a confirmed diagnosis to really know what’s wrong with them.”

She added: “At the moment in Greater Manchester there are around 18,000 people waiting for a neurological consultation and just clearing that list, with no new people joining it, will take up to two years.

“Of these, 10-15% are suspected of having Parkinson’s disease. Our test would be able to tell them whether or not they have it (have Parkinson’s disease) and enable them to be referred to the right specialist.

“So right now we’re talking about being able to steer people in a timely manner to the right specialty, and that will be transformative.”

Can she smell other diseases?

Ms Milne is now working with scientists around the world to see if she can smell other diseases like cancer and tuberculosis (TB).

“I have to shop very early or very late because of people’s perfumes, I can’t get into the chemical department in the supermarket, so yeah, a curse sometimes but I’ve also been to Tanzania and I’ve done tuberculosis research and cancer research in the United States – just preliminary work.

“So it’s a curse and a boon.”

She said she could sometimes smell people with Parkinson’s in the supermarket or walking down the street, but medical ethicists told her she couldn’t tell them.

“What GP would accept a man or woman coming in saying ‘the woman who smells like Parkinson’s told me I have it’? Maybe in the future, but not now.”

A woman who can ‘smell Parkinson’s disease’ helps scientists come up with a breakthrough diagnostic test

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