AI to diagnose rare diseases


Marie Carmen, a. with a girl’s mother genetic disease, first suspected that something was wrong with her daughter when the little girl was 21 months old. She noticed that her daughter sometimes lost her balance a bit.

Marie Carmen, mother of a girl with a genetic disease RTVE

When these episodes became more frequent and he was indeed showing seizures, he sought a diagnosis and began to inquire about epilepsy. That’s one of the testimonies we can hear in the Lab’s original documentary, Algorithms: the end of work as we know it? -Available for free and online on RTVE Play- Where Analyzes the impact of algorithms and artificial intelligence (AI) in the world of work.

Knowing what type of epilepsy the girl had was the key to prescribing the appropriate medication. “We kept trying, because over time Micaela has been trying different drugs and it was like going blind and seeing what happened,” the mother explains.


Micaela’s diagnosis actually came about thanks to whose discovery? Foundation 29 and his artificial intelligence program Qx29, which allows through patient information, Find a possible diagnosis in minutes.

Dx29 is able to parse medical reports and extract symptoms from these medical reports read or learn attentively On this forum, Mikaela’s mother first saw the name of the disease her daughter is currently diagnosed with: Epilepsy encephalopathy. a rare disease of genetic origin that affects the mutation of SLC6A1 gene And epilepsy, characterized by general developmental delay, speech problems, and hypotonia… “Getting diagnosed changes your life,” says Mari Carmen. “My daughter is doing great right now, very stable and although she is 5 years old she doesn’t behave like a 5 year old, but hey, she is fine and she may be starting to have something normal, “He concludes.

The genetic code generates vast amounts of data that require complex tools to be able to interpret. RTVE

This is how AI helps patients and doctors

The genetic code generates vast amounts of data that require complex tools to be able to interpret. Thanks to the use of new technologies and artificial intelligence, Studying a person’s genetic code is shortened to hours or days, it allows to run Towards personalized, personalized, precision medicine,

Doctor Oncia, Clinical Genetics, San Carlos Clinical Hospital (Madrid). RTVE

Dr Onsia from the Unit of Clinical Genetics Hospital Clinico says, “These tools not only allow us to diagnose more quickly, but also more accurately, with fewer adverse effects and with a better therapeutic response based on the patient’s genomic data.” also offer treatment.” San Carlos in Madrid.

Seeing patterns requires a lot of data

It is important to work with AI feed a computer with a large data set That the machine will analyze to find patterns very quickly.

Julian Isla, computer scientist and founder of Fundación 29. RTVE

“One of the things we’ve learned during the development of dx29 is to realize a brutal reality: that There is no data in medicine. The reality we have faced is that we have encountered many problems finding the dataset, the data set that allowed us to train the Dx29″, says Julian Isla, computer scientist and founder of Foundation 29,

“Our fundamental mission is to educate society, the scientific world, the medical world, of this need for data and the need to share,” he says.

Helping with the diagnosis of diseases is one of the many benefits of the advent of algorithms. Artificial intelligence can penetrate the most unexpected places. Find out in the original Lab documentary: Algorithms: the end of work as we know it? -free and online- on RTVE Play.


Please enter your comment!
Please enter your name here