The Human Genome Project solves mystery diseases
Written by Alyssa Clark
Neurological problems, mystery adult illnesses, mental slowness or unexplainable muscle weakness— these are all problems plaguing today’s people, with no cause or solution in sight. Adults and children alike experience strange symptoms whether it be neurologically or physically, but now scientists are suggesting a possible crack in the code when determining the cause of these mystery illnesses. The solution: an analysis of a person’s genetic makeup.
"Many of these are children or adults that have had a mystery illness for many years. Their families don't know what it is and they're sort of desperate for an answer," and it's not possible to find a treatment until you find the cause, he said.
This study is breaking ground as the first of its kind, in a large scale effort to move gene sequencing out of the laboratory and into the everyday practice of medical care— hopes are set pretty high that this technology will pay off.
"This is a direct benefit of the Human Genome Project," the big effort to decode our DNA, said Dr. Christine M. Eng of Baylor College of Medicine in Houston. "We're now able to directly benefit patients through more accurate diagnosis."
The study was published last Wednesday online, in the New England Journal of Medicine with Dr. Eng leading the study. The most recent results show a survey of the 250 patients who were referred to Dr. Eng for her work in a newer type of sequencing (DNA segments which hold the recipes for all the body needs). This type of analysis only accounts for 1 percent of the entire human genome. A total of 1,700 patients have undergone the study so far at Baylor, as they have branched out in testing more patients outside of the study. Eng reported that genome flaws were found in 1 out of 4 people tested.
As more genes are linked to diseases, the diagnoses rate will go us. It already is much higher than it has been in the past, due to the complexity and thorough workings of the genome test.
"For some of these conditions there could be treatments that are lifesaving," said Rebecca Nagy, a scientist at Ohio State University and president of the National Society of Genetic Counselors.
In the initial study of analyzing genes in order to diagnose mystery illnesses of the 2250 patients, 62 of them were found to have genetic flaws. In 33 of those specific cases, only one faulty copy of a gene was responsible. In all 16 other cases, both copies of the gene were bad. Four patients had problems in two different genes, and nine patients had faulty genes on the X chromosome, which spoke to a connection between the faulty genes and men.
About the Author
Alyssa Clark is the Editor of Healthcare Global
Skin Analytics wins NHSX award for AI skin cancer tool
An artificial intelligence-driven tool that identifies skin cancers has received an award from NHSX, the NHS England and Department of Health and Social Care's initiative to bring technology into the UK's national health system.
NHSX has granted the Artificial Intelligence in Health and Care Award to DERM, an AI solution that can identify 11 types of skin lesion.
Developed by Skin Analytics, DERM analyses images of skin lesions using algorithms. Within primary care, Skin Analytics will be used as an additional tool to help doctors with their decision making.
In secondary care, it enables AI telehealth hubs to support dermatologists with triage, directing patients to the right next step. This will help speed up diagnosis, and patients with benign skin lesions can be identified earlier, redirecting them away from dermatology departments that are at full capacity due to the COVID-19 backlog.
Cancer Research has called the impact of the pandemic on cancer services "devastating", with a 42% drop in the number of people starting cancer treatment after screening.
DERM is already in use at University Hospitals Birmingham and Mid and South Essex Health & Care Partnership, where it has led to a significant reduction in unnecessary referrals to hospital.
Now NHSX have granted it the Phase 4 AI in Health and Care Award, making DERM available to clinicians across the country. Overall this award makes £140 million available over four years to accelerate the use of artificial intelligence technologies which meet the aims of the NHS Long Term Plan.
Dr Lucy Thomas, Consultant Dermatologist at Chelsea & Westminster Hospital, said: “Skin Analytics’ receipt of this award is great news for the NHS and dermatology departments. It will allow us to gather real-world data to demonstrate the benefits of AI on patient pathways and workforce challenges.
"Like many services, dermatology has severe backlogs due to the COVID-19 pandemic. This award couldn't have come at a better time to aid recovery and give us more time with the patients most in need of our help.”