It was every mother’s worst nightmare: Stephanie Rankin’s 5-month-old son Beorn showed signs of a life-altering disorder. But for Rankin, it was a little bit worse. There was no diagnosis. Not from the pediatrician, the neurologist, or any other doctor she would see for a decade.
It turns out Rankin’s son had a rare genetic disorder that caused serious changes in his development. But in order to identify which genetic disorder it was, they would need technology that hadn’t even been invented yet.
That’s where Dell comes in.
Dell Tech Vs. The Diagnosis
Today, the leader in this field is the Center for Rare Childhood Disorders at the Translational Genomics Research Institute (TGen). Using genetics, neurology, and the complicated science of bioinformatics, they can put together algorithms that diagnose disorders like Beorn’s. The problem was, when Rankin was looking for answers about Beorn, there weren’t computers powerful enough—or DNA technology precise enough—to actually run those algorithms.
“At that time, we were able to examine all the chromosomes under a microscope to see if there were gross structural changes. This would be akin to looking at the earth from outer space and trying to determine if a leaf had fallen off a tree in a forest in California,” says Dr. Vinodh Narayanan of TGen, who worked on Beorn’s case.
The technology TGen uses relies on a Dell-designed high-performance computing solution. It runs extremely complex algorithms that analyze terabytes of genetic and molecular data at incredibly high speeds. To put that in perspective, the amount of data in a single terabyte would comprise the paper made from 50,000 trees. And these Dell-powered TGen computers are processing terabytes worth of data to diagnose kids like Beorn.
“Now we can look at the spelling of a person’s genomic DNA at the individual letter level—so that’s a billion-fold change in resolution,” Dr. Narayanan says. “We are able to do this because of the super-computing power that is at TGen. This is thanks to Dell and Dell support.”
Powering Up Precision Medicine
It’s about more than just diagnosing the problem, though. Although there’s no cure for Beorn’s disease, thanks to these advances, doctors and researchers are able to design treatments for people with all kinds of rare disorders. This specific tailoring of treatments and therapies to a patient’s unique genetic makeup is called precision medicine. And it is only made possible by advances in computing and genetic technology.
For the Rankin family, the information they received from TGen finally provided peace of mind. “We didn’t have a diagnosis forever or have a way to help him or advocate for him. There was so much of just not knowing,” Rankin says. “I worried about my other children. If they were to get married do they have to worry about their kids having what he has? Now we know it was a spontaneous mutation. It wasn’t something that is in our genes.”
Now, Rankin isn’t fighting the same battle she was 10 years ago. She can advocate for her son and children just like him. She even started her own support group for parents struggling with the same circumstances. Thanks to Rankin’s hard work, TGen’s researchers, and Dell’s innovative technology, children like Beorn and their parents won’t have to be in the dark ever again—and they can finally hope for a brighter future.
Want to work for a company whose employees create technology that can change lives? Dell is hiring on WayUp, so check out their open positions and apply!