Identifying rare diseases in children can be a harrowing task. Parents often visit multiple specialists and wait years for a proper diagnosis, a period that leaves their child suffering and also, stresses parental relationships and finances, even sparking divorce.
A Boca Raton company is combining genetics and Artificial Intelligence to help health professionals diagnose diseases faster. Sivotec now focuses on rare genetic diseases in children and aims to expand to other conditions later, CEO and co-founder Peter Martinez told RefreshMiami.
The venture operates in the same locale where IBM developed the personal computer. Martinez spent 32 years with IBM and set up Sivotec on his former work site, now called the Boca Raton Innovation Campus.
Sivotec’s pioneering technology works like this: A professional swabs a child’s cheek to obtain a DNA sample. The DNA results and the child’s symptoms then are run through massive genetic databases to produce a list of potential diseases in rank order – all generated within seconds. Clinicians then do further testing to pinpoint which disease the child has. The more cases are run through Sivotec’s platform, the more accurate the potential disease lists, thanks to machine-learning.
“Normally, professionals would suspect a given disease, and they would test to validate that,” Martinez said. “We’re taking the same genetic information, and instead of limiting the search for one disease for validation, we’re testing against all 7,300 genetic diseases at one time.”
Sivotec works with top genetic databases worldwide, including those at Johns Hopkins University and the US National Institutes of Health. So far, it has run 162,000 tests for children in 40 countries, mainly in the US, Australia and Europe but also in China, India and the Middle East, he said.
“With every process, your machine gets better. For example, in our database, we have 11,000 cases of children with autism. And we’re learning there’s a relationship between autism and other systems in the body,” such as a deformity in some teeth, said the CEO.
Links to the University of Miami
Martinez co-founded Sivotec in 2019, after a pediatric geneticist at the University of Miami saw potential to use AI to speed up diagnoses. Geneticist Klaas Wierenga had developed a method to identify a potential disease that took him days per case. Sivotec codified his method. It now can produce a list of possible diseases in just 10 seconds, Martinez said.
The technology is viable now, Martinez said, because the speed and cost of DNA sequencing has plunged, and even smaller computers can process reams of data quickly. What’s more, Sivotec doesn’t diagnose diseases – clinicians still do that, so the venture not need to seek lengthy approvals from the US Food and Drug Administration. And by using top genetic databases through licenses, the company keeps costs low, he said.
Martinez brings a strong business background to the venture. Born in Cuba and raised in Miami, he earned his bachelor’s in electrical engineering at UMiami. In three decades at IBM, he served in top roles, including vice president of global business services for IBM Americas including Latin America.
Today, Sivotec employs some 20 people globally, including medical and AI specialists. Founders initially bootstrapped operations, and in 2025, obtained “millions,” mainly from angel investors and family offices with interests in specific rare genetic diseases, Martinez said.
Building its own data set to market
The challenge for Sivotec (named for genomic Signatures In Vivo Technologies) is scaling up. The company now works mainly with hospitals and usually, their geneticists. It offers subscriptions to its cloud-based platform, currently priced low or free, to help build its data set.
“The value of the data we capture is actually higher than the value of the dollars we get from subscriptions,” he said. “That’s an important notion in the AI world, because our ability to commercialize that knowledge is immense.”
But geneticists are a limited group among medical professionals. So, Sivotec is rolling out a separate version of its platform that does not require DNA test results and works with just clinical observations. That version also produces a list of potential diseases in rank order and suggests to clinicians: “There’s a possibility of a genetic condition here, test recommended. You can swab to validate.”
Sivotec is now seeking to raise Series A funding of some $20 million, Martinez said, to grow, focusing on more types of diseases.
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