TGen Transforming Genomics With AI, ML

The Translational Genomics Research Institute’s (TGen) Center for Rare Childhood Disorders, a Phoenix-based research and treatment center, is leveraging artificial intelligence (AI) and machine learning (ML) to bring speed to fighting rare diseases – something that is imperative to deliver answers to families and treatments to young patients.

TGen is shortening the “diagnostic odyssey” for patients with rare diseases, using its partnership with Dell Technologies to automate baseline data interrogation. Through the help of automation, TGen can take discoveries in the lab and then translate those quickly into effective treatments.

“In genomics, processing speed is really important to us. Because the datasets are so large, it’s really hard to actually conceptualize how much data that is,” said Dr. Matt Huentelman, Ph.D., head of the Neurobehavioral Research Unit at TGen.

“If you typed out the human genome letter by letter and printed it off on standard-sized paper, it’s almost 300 feet tall – about the size of the Statue of Liberty – and that presents a real analytical challenge,” he said.

To combat challenges inherent in data movement, data management, and data processing, TGen has developed a data analytic strategy focused on building intelligent systems that can easily bring in AI/ML technologies.

In doing so, TGen can leverage AI and ML to do the baseline interrogation of the data, and then leave humans free to focus on the finer analytics.

“The quicker we can get to the bottom of that data using the Dell Technologies high-performance computing approach that we have here at TGen, the better it is for the families, the better is for the researchers,” Dr. Huentelman said.

For example, a team of TGen researchers – led by Drs. Huentelman and Vinodh Narayanan – used this high-performance computing solution to diagnose a 10-year-old boy named Beorn Rankin.

His parents, Stephanie and Beorn Rankin, had been searching for answers since their son was just three months old. They discovered Beorn was blind as a baby, and he began to experience bad seizures. Ten years and many tests later, the Rankin family finally received an answer.

The Dell Technologies solution was able to analyze the genetic sequencing data from the Rankin family in order to diagnose their son with a mutation in the DNM1 gene.

“Beorn’s story is very typical of what we call the ‘diagnostic odyssey,’” said Dr. Narayanan. “Right away, there was some genetic testing involved. So, we did what we were able to do back in 2005. The human genome project – which was done over 10 years ago – took six years to do.”

“Now, we can do the same thing – a full genome – in 24 hours, and it costs $10,000. That is the pace of progress,” he continued. “And we would not be able to do any of this without the support and collaboration with Dell Technologies.”

With technologies such as AI and ML, TGen is able to create personalized, targeted treatment for patients that is far superior to traditional methods.

“Our partnership with Dell Technologies has been a cornerstone to a lot of work that we’ve done, and has enabled TGen to stay ahead of the pack, and be a leader in precision medicine,” said James Lowey, chief information officer at TGen.