Short Story Contest Winner: "The Gerry Program"
It's an odd sensation knowing you're going to die, but it was a feeling Gerry Ferguson had become relatively acquainted with over the past two years. What most perplexed the terminally ill, he observed, was not the concept of death so much as the continuation of all other life.
Gerry's secret project had been in the works for two years now, ever since they found the growth.
Who will mourn me when I'm gone? What trait or idiosyncrasy will people most recall? Will I still be talked of, 100 years from now?
But Gerry didn't worry about these questions. He was comfortable that his legacy would live on, in one form or another. From his cozy flat in the west end of Glasgow, Gerry had managed to put his affairs in order and still find time for small joys.
Feeding the geese in summer at the park just down from his house, reading classics from the teeming bookcase in the living room, talking with his son Michael on Skype. It was Michael who had first suggested reading some of the new works of non-fiction that now littered the large oak desk in Gerry's study.
He was just finishing 'The Master Algorithm' when his shabby grandfather clock chimed six o'clock. Time to call Michael. Crammed into his tiny study, Gerry pulled his computer's webcam close and waved at Michael's smiling face.
"Hi Dad! How're you today?"
"I'm alright, son. How're things in sunny Australia?"
"Hot as always. How's things in Scotland?"
"I'd 'ave more chance gettin' a tan from this computer screen than I do goin' out there."
Michael chuckled. He's got that hearty Ferguson laugh, Gerry thought.
"How's the project coming along?" Michael asked. "Am I going to see it one of these days?"
"Of course," grinned Gerry, "I designed it for you."
Gerry's secret project had been in the works for two years now, ever since they found the growth. He had decided it was better not to tell Michael. He would only worry.
The two men chatted for hours. They discussed Michael's love life (or lack thereof), memories of days walking in the park, and their shared passion, the unending woes of Rangers Football Club. It wasn't until Michael said his goodbyes that Gerry noticed he'd been sitting in the dark for the best part of three hours, his mesh curtains casting a dim orange glow across the room from the street light outside. Time to get back to work.
*
Every night, Gerry sat at his computer, crawling forums, nourishing his project, feeding his knowledge and debating with other programmers. Even at age 82, Gerry knew more than most about algorithms. Never wanting to feel old, and with all the kids so adept at this digital stuff, Gerry figured he should give the Internet a try too. Besides, it kept his brain active and restored some of the sociability he'd lost in the previous decades as old friends passed away and the physical scope of his world contracted.
This night, like every night, Gerry worked away into the wee hours. His back would ache come morning, but this was the only time he truly felt alive these days. From his snug red brick home in Scotland, Gerry could share thoughts and information with strangers from all over the world. It truly was a miracle of modern science!
*
The next day, Gerry woke to the warm amber sun seeping in between a crack in the curtains. Like every morning, his thoughts took a little time to come into focus. Instinctively his hand went to the other side of the bed. Nobody there. Of course; she was gone. Rita, the sweetest woman he'd ever known. Four years this spring, God rest her soul.
Puttering around the cramped kitchen, Gerry heard a knock at the door. Who could that be? He could see two women standing in the hallway, their bodies contorted in the fisheye glass of the peephole. One looked familiar, but Gerry couldn't be sure. He fiddled with the locks and pulled the door open.
"Hi Gerry. How are you today?"
"Fine, thanks," he muttered, still searching his mind for where he'd seen her face before.
Noting the confusion in his eyes, the woman proffered a hand. "Alice, Alice Corgan. I pop round every now and again to check on you."
It clicked. "Ah aye! Come in, come in. Lemme get ya a cuppa." Gerry turned and shuffled into the flat.
As Gerry set about his tiny kitchen, Alice called from the living room, "This is Mandy. She's a care worker too. She's going to pay you occasional visits if that's alright with you."
Gerry poked his head around the doorway. "I'll always welcome a beautiful young lady in ma home. Though, I've tae warn you I'm a married man, so no funny business." He winked and ducked back into the kitchen.
Alice turned to Mandy with a grin. "He's a good man, our Gerry. You'll get along just fine." She lowered her voice. "As I said, with the Alzheimer's, he has to be reminded to take his medication, but he's still mostly self-sufficient. We installed a medi-bot to remind him every day and dispense the pills. If he doesn't respond, we'll get a message to send someone over."
Mandy nodded and scribbled notes in a pad.
"When I'm gone, Michael will have somethin' to remember me by."
"Also, and this is something we've been working on for a few months now, Gerry is convinced he has something…" her voice trailed off. "He thinks he has cancer. Now, while the Alzheimer's may affect his day-to-day life, it's not at a stage where he needs to be taken into care. The last time we went for a checkup, the doctor couldn't find any sign of cancer. I think it stems from--"
Gerry shouted from the other room: "Does the young lady take sugar?"
"No, I'm fine thanks," Mandy called back.
"Of course you don't," smiled Gerry. "Young lady like yersel' is sweet enough."
*
The following week, Mandy arrived early at Gerry's. He looked unsure at first, but he invited her in.
Sitting on the sofa nurturing a cup of tea, Alice tried to keep things light. "So what do you do in your spare time, Gerry?"
"I've got nothing but spare time these days, even if it's running a little low."
"Do you have any hobbies?"
"Yes actually." Gerry smiled. "I'm makin' a computer program."
Alice was taken aback. She knew very little about computers herself. "What's the program for?" she asked.
"Well, despite ma appearance, I'm no spring chicken. I know I don't have much time left. Ma son, he lives down in Australia now, he worked on a computer program that uses AI - that's artificial intelligence - to imitate a person."
Alice still looked confused, so Gerry pressed on.
"Well, I know I've not long left, so I've been usin' this open source code to make ma own for when I'm gone. I've already written all the code. Now I just have to add the things that make it seem like me. I can upload audio, text, even videos of masel'. That way, when I'm gone, Michael will have somethin' to remember me by."
Mandy sat there, stunned. She had no idea anybody could do this, much less an octogenarian from his small, ramshackle flat in Glasgow.
"That's amazing Gerry. I'd love to see the real thing when you're done."
"O' course. I mean, it'll take time. There's so much to add, but I'll be happy to give a demonstration."
Mandy sat there and cradled her mug. Imagine, she thought, being able to preserve yourself, or at least some basic caricature of yourself, forever.
*
As the weeks went on, Gerry slowly added new shades to his coded double. Mandy would leaf through the dusty photo albums on Gerry's bookcase, pointing to photos and asking for the story behind each one. Gerry couldn't always remember but, when he could, the accompanying stories were often hilarious, incredible, and usually a little of both. As he vividly recounted tales of bombing missions over Burma, trips to the beach with a young Michael and, in one particularly interesting story, giving the finger to Margaret Thatcher, Mandy would diligently record them through a Dictaphone to be uploaded to the program.
Gerry loved the company, particularly when he could regale the young woman with tales of his son Michael. One day, as they sat on the sofa flicking through a box of trinkets from his days as a travelling salesman, Mandy asked why he didn't have a smartphone.
He shrugged. "If I'm out 'n about then I want to see the world, not some 2D version of it. Besides, there's nothin' on there for me."
Alice explained that you could get Skype on a smartphone: "You'd be able to talk with Michael and feed the geese at the park at the same time," she offered.
Gerry seemed interested but didn't mention it again.
"Only thing I'm worried about with ma computer," he remarked, "is if there's another power cut and I can't call Michael. There's been a few this year from the snow 'n I hate not bein' able to reach him."
"Well, if you ever want to use the Skype app on my phone to call him you're welcome," said Mandy. "After all, you just need to add him to my contacts."
Gerry was flattered. "That's a relief, knowing I won't miss out on calling Michael if the computer goes bust."
*
Then, in early spring, just as the first green buds burst forth from the bare branches, Gerry asked Mandy to come by. "Bring that Alice girl if ya can - I know she's excited to see this too."
The next day, Mandy and Alice dutifully filed into the cramped study and sat down on rickety wooden chairs brought from the living room for this special occasion.
An image of Gerry, somewhat younger than the man himself, flashed up on the screen.
With a dramatic throat clearing, Gerry opened the program on his computer. An image of Gerry, somewhat younger than the man himself, flashed up on the screen.
The room was silent.
"Hiya Michael!" AI Gerry blurted. The real Gerry looked flustered and clicked around the screen. "I forgot to put the facial recognition on. Michael's just the go-to name when it doesn't recognize a face." His voice lilted with anxious excitement. "This is Alice," Gerry said proudly to the camera, pointing at Alice, "and this is Mandy."
AI Gerry didn't take his eyes from real Gerry, but grinned. "Hello, Alice. Hiya Mandy." The voice was definitely his, even if the flow of speech was slightly disjointed.
"Hi," Alice and Mandy stuttered.
Gerry beamed at both of them. His eyes flitted between the girls and the screen, perhaps nervous that his digital counterpart wasn't as polished as they'd been expecting.
"You can ask him almost anything. He's not as advanced as the ones they're making in the big studios, but I think Michael will like him."
Alice and Mandy gathered closer to the monitor. A mute Gerry grinned back from the screen. Sitting in his wooden chair, the real Gerry turned to his AI twin and began chattering away: "So, what do you think o' the place? Not bad eh?"
"Oh aye, like what you've done wi' it," said AI Gerry.
"Gerry," Alice cut in. "What did you say about Michael there?"
"Ah, I made this for him. After all, it's the kind o' thing his studio was doin'. I had to clear some space to upload it 'n show you guys, so I had to remove Skype for now, but Michael won't mind. Anyway, Mandy's gonna let me Skype him from her phone."
Mandy pulled her phone out and smiled. "Aye, he'll be able to chat with two Gerry's."
Alice grabbed Mandy by the arm: "What did you tell him?" she whispered, her eyes wide.
"I told him he can use my phone if he wants to Skype Michael. Is that okay?"
Alice turned to Gerry, who was chattering away with his computerized clone. "Gerry, we'll just be one second, I need to discuss something with Mandy."
"Righto," he nodded.
Outside the room, Alice paced up and down the narrow hallway.
Mandy could see how flustered she was. "What's wrong? Don't you like the chatbot? I think it's kinda c-"
"Michael's dead," Alice spluttered.
"What do you mean? He talks to him all the time."
Alice sighed. "He doesn't talk to Michael. See, a few years back, Michael found out he had cancer. He worked for this company that did AI chatbot stuff. When he knew he was dying he--" she groped in the air for the words-- "he built this chatbot thing for Gerry, some kind of super-advanced AI. Gerry had just been diagnosed with Alzheimer's and I guess Michael was worried Gerry would forget him. He designed the chatbot to say he was in Australia to explain why he couldn't visit."
"That's awful," Mandy granted, "but I don't get what the problem is. I mean, surely he can show the AI Michael his own chatbot?"
"No, because you can't get the AI Michael on Skype. Michael just designed the program to look like Skype."
"But then--" Mandy went silent.
"Michael uploaded the entire AI to Gerry's computer before his death. Gerry didn't delete Skype. He deleted the AI Michael."
"So… that's it? He-he's gone?" Mandy's voice cracked. "He can't just be gone, surely he can't?"
The women stood staring at each other. They looked to the door of the study. They could still hear Gerry, gabbing away with his cybercopy.
"I can't go back in there," muttered Mandy. Her voice wavered as she tried to stem the misery rising in her throat.
Alice shook her head and paced the floor. She stopped and stared at Mandy with grim resignation. "We don't have a choice."
When they returned, Gerry was still happily chatting away.
"Hiya girls. Ya wanna ask my handsome twin any other questions? If not, we could get Michael on the phone?"
Neither woman spoke. Gerry clapped his hands and turned gaily to the monitor again: "I cannae wait for ya t'meet him, Gerry. He's gonna be impressed wi' you."
Alice clasped her hands to her mouth. Tears welled in the women's eyes as they watched the old man converse with his digital copy. The heat of the room seemed to swell, becoming insufferable. Mandy couldn't take it anymore. She jumped up, bolted to the door and collapsed against a wall in the hallway. Alice perched on the edge of her seat in a dumb daze, praying for the floor to open and swallow the contents of the room whole.
Oblivious, Gerry and his echo babbled away, the blue glow of the screen illuminating his euphoric face. "Just wait until y'meet him Gerry, just wait."
Regenerative medicine has come a long way, baby
The field of regenerative medicine had a shaky start. In 2002, when news spread about the first cloned animal, Dolly the sheep, a raucous debate ensued. Scary headlines and organized opposition groups put pressure on government leaders, who responded by tightening restrictions on this type of research.
Fast forward to today, and regenerative medicine, which focuses on making unhealthy tissues and organs healthy again, is rewriting the code to healing many disorders, though it’s still young enough to be considered nascent. What started as one of the most controversial areas in medicine is now promising to transform it.
Progress in the lab has addressed previous concerns. Back in the early 2000s, some of the most fervent controversy centered around somatic cell nuclear transfer (SCNT), the process used by scientists to produce Dolly. There was fear that this technique could be used in humans, with possibly adverse effects, considering the many medical problems of the animals who had been cloned.
But today, scientists have discovered better approaches with fewer risks. Pioneers in the field are embracing new possibilities for cellular reprogramming, 3D organ printing, AI collaboration, and even growing organs in space. It could bring a new era of personalized medicine for longer, healthier lives - while potentially sparking new controversies.
Engineering tissues from amniotic fluids
Work in regenerative medicine seeks to reverse damage to organs and tissues by culling, modifying and replacing cells in the human body. Scientists in this field reach deep into the mechanisms of diseases and the breakdowns of cells, the little workhorses that perform all life-giving processes. If cells can’t do their jobs, they take whole organs and systems down with them. Regenerative medicine seeks to harness the power of healthy cells derived from stem cells to do the work that can literally restore patients to a state of health—by giving them healthy, functioning tissues and organs.
Modern-day regenerative medicine takes its origin from the 1998 isolation of human embryonic stem cells, first achieved by John Gearhart at Johns Hopkins University. Gearhart isolated the pluripotent cells that can differentiate into virtually every kind of cell in the human body. There was a raging controversy about the use of these cells in research because at that time they came exclusively from early-stage embryos or fetal tissue.
Back then, the highly controversial SCNT cells were the only way to produce genetically matched stem cells to treat patients. Since then, the picture has changed radically because other sources of highly versatile stem cells have been developed. Today, scientists can derive stem cells from amniotic fluid or reprogram patients’ skin cells back to an immature state, so they can differentiate into whatever types of cells the patient needs.
In the context of medical history, the field of regenerative medicine is progressing at a dizzying speed. But for those living with aggressive or chronic illnesses, it can seem that the wheels of medical progress grind slowly.
The ethical debate has been dialed back and, in the last few decades, the field has produced important innovations, spurring the development of whole new FDA processes and categories, says Anthony Atala, a bioengineer and director of the Wake Forest Institute for Regenerative Medicine. Atala and a large team of researchers have pioneered many of the first applications of 3D printed tissues and organs using cells developed from patients or those obtained from amniotic fluid or placentas.
His lab, considered to be the largest devoted to translational regenerative medicine, is currently working with 40 different engineered human tissues. Sixteen of them have been transplanted into patients. That includes skin, bladders, urethras, muscles, kidneys and vaginal organs, to name just a few.
These achievements are made possible by converging disciplines and technologies, such as cell therapies, bioengineering, gene editing, nanotechnology and 3D printing, to create living tissues and organs for human transplants. Atala is currently overseeing clinical trials to test the safety of tissues and organs engineered in the Wake Forest lab, a significant step toward FDA approval.
In the context of medical history, the field of regenerative medicine is progressing at a dizzying speed. But for those living with aggressive or chronic illnesses, it can seem that the wheels of medical progress grind slowly.
“It’s never fast enough,” Atala says. “We want to get new treatments into the clinic faster, but the reality is that you have to dot all your i’s and cross all your t’s—and rightly so, for the sake of patient safety. People want predictions, but you can never predict how much work it will take to go from conceptualization to utilization.”
As a surgeon, he also treats patients and is able to follow transplant recipients. “At the end of the day, the goal is to get these technologies into patients, and working with the patients is a very rewarding experience,” he says. Will the 3D printed organs ever outrun the shortage of donated organs? “That’s the hope,” Atala says, “but this technology won’t eliminate the need for them in our lifetime.”
New methods are out of this world
Jeanne Loring, another pioneer in the field and director of the Center for Regenerative Medicine at Scripps Research Institute in San Diego, says that investment in regenerative medicine is not only paying off, but is leading to truly personalized medicine, one of the holy grails of modern science.
This is because a patient’s own skin cells can be reprogrammed to become replacements for various malfunctioning cells causing incurable diseases, such as diabetes, heart disease, macular degeneration and Parkinson’s. If the cells are obtained from a source other than the patient, they can be rejected by the immune system. This means that patients need lifelong immunosuppression, which isn’t ideal. “With Covid,” says Loring, “I became acutely aware of the dangers of immunosuppression.” Using the patient’s own cells eliminates that problem.
Microgravity conditions make it easier for the cells to form three-dimensional structures, which could more easily lead to the growing of whole organs. In fact, Loring's own cells have been sent to the ISS for study.
Loring has a special interest in neurons, or brain cells that can be developed by manipulating cells found in the skin. She is looking to eventually treat Parkinson’s disease using them. The manipulated cells produce dopamine, the critical hormone or neurotransmitter lacking in the brains of patients. A company she founded plans to start a Phase I clinical trial using cell therapies for Parkinson’s soon, she says.
This is the culmination of many years of basic research on her part, some of it on her own cells. In 2007, Loring had her own cells reprogrammed, so there’s a cell line that carries her DNA. “They’re just like embryonic stem cells, but personal,” she said.
Loring has another special interest—sending immature cells into space to be studied at the International Space Station. There, microgravity conditions make it easier for the cells to form three-dimensional structures, which could more easily lead to the growing of whole organs. In fact, her own cells have been sent to the ISS for study. “My colleagues and I have completed four missions at the space station,” she says. “The last cells came down last August. They were my own cells reprogrammed into pluripotent cells in 2009. No one else can say that,” she adds.
Future controversies and tipping points
Although the original SCNT debate has calmed down, more controversies may arise, Loring thinks.
One of them could concern growing synthetic embryos. The embryos are ultimately derived from embryonic stem cells, and it’s not clear to what stage these embryos can or will be grown in an artificial uterus—another recent invention. The science, so far done only in animals, is still new and has not been widely publicized but, eventually, “People will notice the production of synthetic embryos and growing them in an artificial uterus,” Loring says. It’s likely to incite many of the same reactions as the use of embryonic stem cells.
Bernard Siegel, the founder and director of the Regenerative Medicine Foundation and executive director of the newly formed Healthspan Action Coalition (HSAC), believes that stem cell science is rapidly approaching tipping point and changing all of medical science. (For disclosure, I do consulting work for HSAC). Siegel says that regenerative medicine has become a new pillar of medicine that has recently been fast-tracked by new technology.
Artificial intelligence is speeding up discoveries and the convergence of key disciplines, as demonstrated in Atala’s lab, which is creating complex new medical products that replace the body’s natural parts. Just as importantly, those parts are genetically matched and pose no risk of rejection.
These new technologies must be regulated, which can be a challenge, Siegel notes. “Cell therapies represent a challenge to the existing regulatory structure, including payment, reimbursement and infrastructure issues that 20 years ago, didn’t exist.” Now the FDA and other agencies are faced with this revolution, and they’re just beginning to adapt.
Siegel cited the 2021 FDA Modernization Act as a major step. The Act allows drug developers to use alternatives to animal testing in investigating the safety and efficacy of new compounds, loosening the agency’s requirement for extensive animal testing before a new drug can move into clinical trials. The Act is a recognition of the profound effect that cultured human cells are having on research. Being able to test drugs using actual human cells promises to be far safer and more accurate in predicting how they will act in the human body, and could accelerate drug development.
Siegel, a longtime veteran and founding father of several health advocacy organizations, believes this work helped bring cell therapies to people sooner rather than later. His new focus, through the HSAC, is to leverage regenerative medicine into extending not just the lifespan but the worldwide human healthspan, the period of life lived with health and vigor. “When you look at the HSAC as a tree,” asks Siegel, “what are the roots of that tree? Stem cell science and the huge ecosystem it has created.” The study of human aging is another root to the tree that has potential to lengthen healthspans.
The revolutionary science underlying the extension of the healthspan needs to be available to the whole world, Siegel says. “We need to take all these roots and come up with a way to improve the life of all mankind,” he says. “Everyone should be able to take advantage of this promising new world.”
Forty years ago, Joy Milne, a nurse from Perth, Scotland, noticed a musky odor coming from her husband, Les. At first, Milne thought the smell was a result of bad hygiene and badgered her husband to take longer showers. But when the smell persisted, Milne learned to live with it, not wanting to hurt her husband's feelings.
Twelve years after she first noticed the "woodsy" smell, Les was diagnosed at the age of 44 with Parkinson's Disease, a neurodegenerative condition characterized by lack of dopamine production and loss of movement. Parkinson's Disease currently affects more than 10 million people worldwide.
Milne spent the next several years believing the strange smell was exclusive to her husband. But to her surprise, at a local support group meeting in 2012, she caught the familiar scent once again, hanging over the group like a cloud. Stunned, Milne started to wonder if the smell was the result of Parkinson's Disease itself.
Milne's discovery led her to Dr. Tilo Kunath, a neurobiologist at the Centre for Regenerative Medicine at the University of Edinburgh. Together, Milne, Kunath, and a host of other scientists would use Milne's unusual sense of smell to develop a new diagnostic test, now in development and poised to revolutionize the treatment of Parkinson's Disease.
"Joy was in the audience during a talk I was giving on my work, which has to do with Parkinson's and stem cell biology," Kunath says. "During the patient engagement portion of the talk, she asked me if Parkinson's had a smell to it." Confused, Kunath said he had never heard of this – but for months after his talk he continued to turn the question over in his mind.
Kunath knew from his research that the skin's microbiome changes during different disease processes, releasing metabolites that can give off odors. In the medical literature, diseases like melanoma and Type 2 diabetes have been known to carry a specific scent – but no such connection had been made with Parkinson's. If people could smell Parkinson's, he thought, then it stood to reason that those metabolites could be isolated, identified, and used to potentially diagnose Parkinson's by their presence alone.
First, Kunath and his colleagues decided to test Milne's sense of smell. "I got in touch with Joy again and we designed a protocol to test her sense of smell without her having to be around patients," says Kunath, which could have affected the validity of the test. In his spare time, Kunath collected t-shirt samples from people diagnosed with Parkinson's and from others without the diagnosis and gave them to Milne to smell. In 100 percent of the samples, Milne was able to detect whether a person had Parkinson's based on smell alone. Amazingly, Milne was even able to detect the "Parkinson's scent" in a shirt from the control group – someone who did not have a Parkinson's diagnosis, but would go on to be diagnosed nine months later.
From the initial study, the team discovered that Parkinson's did have a smell, that Milne – inexplicably – could detect it, and that she could detect it long before diagnosis like she had with her husband, Les. But the experiments revealed other things that the team hadn't been expecting.
"One surprising thing we learned from that experiment was that the odor was always located in the back of the shirt – never in the armpit, where we expected the smell to be," Kunath says. "I had a chance meeting with a dermatologist and he said the smell was due to the patient's sebum, which are greasy secretions that are really dense on your upper back. We have sweat glands, instead of sebum, in our armpits." Patients with Parkinson's are also known to have increased sebum production.
With the knowledge that a patient's sebum was the source of the unusual smell, researchers could go on to investigate exactly what metabolites were in the sebum and in what amounts. Kunath, along with his associate, Dr. Perdita Barran, collected and analyzed sebum samples from 64 participants across the United Kingdom. Once the samples were collected, Barran and others analyzed it using a method called gas chromatography mass spectrometry, or GS-MC, which separated, weighed and helped identify the individual compounds present in each sebum sample.
Barran's team can now correctly identify Parkinson's in nine out of 10 patients – a much quicker and more accurate way to diagnose than what clinicians do now.
"The compounds we've identified in the sebum are not unique to people with Parkinson's, but they are differently expressed," says Barran, a professor of mass spectrometry at the University of Manchester. "So this test we're developing now is not a black-and-white, do-you-have-something kind of test, but rather how much of these compounds do you have compared to other people and other compounds." The team identified over a dozen compounds that were present in the sebum of Parkinson's patients in much larger amounts than the control group.
Using only the GC-MS and a sebum swab test, Barran's team can now correctly identify Parkinson's in nine out of 10 patients – a much quicker and more accurate way to diagnose than what clinicians do now.
"At the moment, a clinical diagnosis is based on the patient's physical symptoms," Barran says, and determining whether a patient has Parkinson's is often a long and drawn-out process of elimination. "Doctors might say that a group of symptoms looks like Parkinson's, but there are other reasons people might have those symptoms, and it might take another year before they're certain," Barran says. "Some of those symptoms are just signs of aging, and other symptoms like tremor are present in recovering alcoholics or people with other kinds of dementia." People under the age of 40 with Parkinson's symptoms, who present with stiff arms, are often misdiagnosed with carpal tunnel syndrome, she adds.
Additionally, by the time physical symptoms are present, Parkinson's patients have already lost a substantial amount of dopamine receptors – about sixty percent -- in the brain's basal ganglia. Getting a diagnosis before physical symptoms appear would mean earlier interventions that could prevent dopamine loss and preserve regular movement, Barran says.
"Early diagnosis is good if it means there's a chance of early intervention," says Barran. "It stops the process of dopamine loss, which means that motor symptoms potentially will not happen, or the onset of symptoms will be substantially delayed." Barran's team is in the processing of streamlining the sebum test so that definitive results will be ready in just two minutes.
"What we're doing right now will be a very inexpensive test, a rapid-screen test, and that will encourage people to self-sample and test at home," says Barran. In addition to diagnosing Parkinson's, she says, this test could also be potentially useful to determine if medications were at a therapeutic dose in people who have the disease, since the odor is strongest in people whose symptoms are least controlled by medication.
"When symptoms are under control, the odor is lower," Barran says. "Potentially this would allow patients and clinicians to see whether their symptoms are being managed properly with medication, or perhaps if they're being overmedicated." Hypothetically, patients could also use the test to determine if interventions like diet and exercise are effective at keeping Parkinson's controlled.
"We hope within the next two to five years we will have a test available."
Barran is now running another clinical trial – one that determines whether they can diagnose at an earlier stage and whether they can identify a difference in sebum samples between different forms of Parkinson's or diseases that have Parkinson's-like symptoms, such as Lewy Body Dementia.
"Within the next one to two years, we hope to be running a trial in the Manchester area for those people who do not have motor symptoms but are at risk for developing dementia due to symptoms like loss of smell and sleep difficulty," Barran had said in 2019. "If we can establish that, we can roll out a test that determines if you have Parkinson's or not with those first pre-motor symptoms, and then at what stage. We hope within the next two to five years we will have a test available."
In a 2022 study, published in the American Chemical Society, researchers used mass spectrometry to analyze sebum from skin swabs for the presence of the specific molecules. They found that some specific molecules are present only in people who have Parkinson’s. Now they hope that the same method can be used in regular diagnostic labs. The test, many years in the making, is inching its way to the clinic.
"We would likely first give this test to people who are at risk due to a genetic predisposition, or who are at risk based on prodomal symptoms, like people who suffer from a REM sleep disorder who have a 50 to 70 percent chance of developing Parkinson's within a ten year period," Barran says. "Those would be people who would benefit from early therapeutic intervention. For the normal population, it isn't beneficial at the moment to know until we have therapeutic interventions that can be useful."
Milne's husband, Les, passed away from complications of Parkinson's Disease in 2015. But thanks to him and the dedication of his wife, Joy, science may have found a way to someday prolong the lives of others with this devastating disease. Sometimes she can smell people who have Parkinson’s while in the supermarket or walking down the street but has been told by medical ethicists she cannot tell them, Milne said in an interview with the Guardian. But once the test becomes available in the clinics, it will do the job for her.
[Ed. Note: A older version of this hit article originally ran on September 3, 2019.]