NEW AI helping to identify undiagnosed genetic disorders in children
Researchers have developed the world's first algorithm powered by artificial intelligence to identify children with undiagnosed rare genetic disorders.
Canadian researchers are at the forefront of an innovative new stem cell-based treatment that could one day eliminate Type 1 diabetes patients’ dependence on insulin injections, and transform dozens of other health conditions affecting millions worldwide.
The first-of-its-kind study, conducted by a team of researchers at the University of British Columbia and Vancouver Coastal Health (VCH), shows that a tiny implant infused with stem cells can help the body produce insulin on its own.
“There is hope for people with type one diabetes, that has never existed before,” Dr. David Thompson, endocrinologist at Vancouver General Hospital, told CTV National News.
Fifteen patients living with Type 1 diabetes participated in the study, which saw a device the size of a quarter implanted in their abdomen.
Each device contained millions of lab-grown cells that originated from a single stem cell line and were “coached” into becoming beta cells, which are responsible for making insulin, the hormone that controls a person’s blood sugar.
Researchers hypothesized that the device would help stimulate insulin production in patients who suffer from Type 1 diabetes, an autoimmune disease in which the immune system attacks the pancreas, destroying its ability to make the critical hormone.
Six months later, the cells had not only survived, they had started producing tiny bits of insulin when needed.
"No one yet has been able to completely stop (taking) insulin, although they have been able to reduce the amount that they're taking and improve the control of their diabetes during this trial,” Thompson said.
“They're all waiting for the time when somebody can actually say, ‘I need no more insulin,’ and that's coming very soon.”
The study used C-peptide, a short chain of amino acids that is released into the blood as a byproduct of the formation of insulin, to measure the amount of insulin released by the implanted cells. Injected insulin does not generate C-peptide.
According to the findings, published Thursday in the journal Cell Stem Cell, participants’ C-peptide levels rose after eating a meal, showing evidence that they were creating insulin naturally.
Patients in the study also spent 13-per-cent more time in target blood sugar range and some were even able to reduce the amount of insulin they injected thanks to the implant.
“We're not at the stage yet where this is ready for broad treatment and everyone with diabetes,” Dr. Bruce Perkins, director of the diabetes clinical research unit at Toronto’s Mount Sinai hospital, told CTV National News.
“But this idea of implanting cells that can produce insulin into a human being with Type 1 diabetes, and those insulin producing cells being able to make some insulin and survive for a year is a fantastic step forward.”
The study’s success represents a major scientific breakthrough in treating Type 1 diabetes, a disease roughly 300,000 Canadians live with – including eight-year-old Cameron Henderson and his mother, Cora.
“I’ve lived with Type 1 myself for 41-years. I’ve heard of mentions of advancements here and there through my endocrinologist, but I haven’t followed anything religiously mainly because it’s just such a foreign concept to me,” Cora Henderson told CTV National News.
“The fact that they could have advancements that could change our lives.”
For the Henderson’s, life with Type 1 diabetes means constantly thinking about diabetes. They have to bring a myriad of supplies with them whenever they leave the house, consider what they’re eating and check their blood-sugar levels regularly.
Although she is cautiously optimistic about the study’s finding, Henderson says imagining a world where she and her son can live without daily insulin injections is something she can’t put into words.
“When I learned about it, I was I was so excited that I had to pull my car over and I cried in my car, because I couldn't imagine a world that would be so different,” she said.
The study, while an exciting development, has its limitations.
With only 15 participants, its scope remains quite small and, in order to ensure accuracy in their findings, researchers want to broaden the study to include placebos.
“This is this is a very important but small step along that road,” said Perkins, who lives with diabetes himself.
“I know that this isn't going to be available to make my life perfectly easy in the next couple of years, but I know with certainty that this is such a critical step to getting there.”
In its next iteration, expected to begin in 2022, Thompson says the team aims to do the procedure without immunosuppression drugs, using a novel method of modifying the cells through a genetic technique that will allow the cells to produce their own immunosuppression.
“I'm hoping within the next year, to actually have somebody who stops taking insulin for the first time ever since they were diagnosed with diabetes and not have to take any anti-rejection drugs,” he said.
Researchers have developed the world's first algorithm powered by artificial intelligence to identify children with undiagnosed rare genetic disorders.
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