Science Saturday: Mayo Clinic researchers use new innovative technology to diagnose teen brothers with ultra-rare genetic disorder

When Emery Diffendorfer was a baby, he could not maintain his head up or babble like different infants his age. His uncommon genetic disorder enlarged his tongue and head, and he had weakened muscle tone, brittle bones, sleep apnea, poor eyesight and chronic infections in his tonsils and adenoids. 

By six months outdated, the tiny Mayo Clinic affected person was within the intensive care unit with extreme pneumonia.

That’s when Cheryl Diffendorfer and Amy Honsey — each Mayo Clinic nurses on the time — opened their hearts and their residence to Emery as his foster mother and father. They knew that they had the mandatory experience, in addition to the love and persistence, to care for him. 

“We brought him home with all of his tubes and breathing equipment,” Honsey says. “And we cared for him around the clock.”

Just a few years later, they formally adopted Emery, alongside with his older brother, Aiden, who shared among the identical signs, however on a a lot milder scale. 

Meanwhile, docs remained baffled by the boys’ perplexing situations. They suspected a hereditary abnormality of their DNA — the blueprint of life that guides the event and performance of cells, tissues and organs. But even in depth genomic sequencing failed to pinpoint the boys’ disease-causing gene mutation. 

“Out of the blue they called and said they found a diagnosis. They didn’t forget about our kids. They didn’t give up.”Cheryl Diffendorfer

“They did every test under the sun, and everything came back negative,” Diffendorfer recollects. “They couldn’t find the answer.”

Determined to present a prognosis, Emery and Aiden’s physician made a promise at the moment. “She told us, ‘Somewhere down the road, you will get a phone call that we have identified Emery and Aiden’s disorder,'” Honsey says.

That cellphone name got here almost 12 years later in August 2022. 

“Out of the blue they called and said they found a diagnosis,” Diffendorfer says. “They didn’t forget about our kids. They didn’t give up.”

From discovery to prognosis

Emery, now 15 years outdated, and Aiden, 16, have been among the many first to obtain a prognosis with the assistance of Mayo Clinic’s new automated system known as RENEW, which launched in 2022. RENEW stands for reevaluation of negative whole-exome/genome information.

RENEW tracks newly printed discoveries of disease-causing genetic variants from around the globe. The scientific findings are robotically uploaded into Mayo’s system each three months.

“Then the findings are compared to Mayo Clinic Center for Individualized Medicine’s database of unsolved patient sequencing results to identify potentially important developments,” explains Eric Klee, Ph.D., the middle’s Midwest Associate Director of Research and Innovation and the creator of RENEW.  

Dr. Klee says Emery and Aiden’s disease-causing genetic variant was discovered by researchers in Norway in 2021. The boys are actually amongst 15 individuals worldwide who’ve been identified with the ultra-rare genetic disorder. 

“We’re seeing dramatic growth in the knowledge around what causes genetic diseases, and that is reflected every time we run RENEW and answers are revealed,” Dr. Klee says. “The overall percentage of the answers may be small, but the impact of giving a diagnosis to patients is immense.”

A key a part of the innovative technology is a particular set of filters that whittles down the new genetic data out there because the final evaluation. This helps zero in on what could possibly be inflicting a affected person’s disorder.

Dr. Klee says it takes lower than a minute per affected person for RENEW to analyze and evaluate the new discoveries with the info, and for his staff to evaluate the outcomes for the almost 2,000 Mayo Clinic sufferers within the system. 

“My hope is that someday down the road, maybe in another few years, we’ll be able to call the Diffendorfer family back saying we’ve identified a therapy.” Dr. Eric Klee

Every time RENEW flags a match, because it did with the Diffendorfer boys, a staff of genomic researchers launches an in-depth investigation. 

“We’re leveraging a wealth of new genetic knowledge to aid in our efforts to identify the genetic cause of patients’ diseases,” says Rory Olson, Ph.D., a medical variant scientist at Mayo Clinic’s Center for Individualized Medicine.

Dr. Olson says the new data might describe a new disorder or widen the medical spectrum for an current disorder.

“We review the patient’s medical records, clinical history and DNA alterations, and correlate this information with new genetic findings,” explains Dr. Olson. “Our role is to ask, ‘What is this gene’s function and what is the gene-disease mechanism? And is this finding potentially relevant for this patient’s disorder?'”

Providing solutions and hope

So far, almost 20 Mayo Clinic sufferers with uncommon and undiagnosed ailments have acquired a definitive prognosis with the assistance of RENEW.

Like most uncommon ailments, Emery and Aiden’s prognosis has not but resulted in a focused remedy.

“But providing patients with an answer to the cause of their disease is the most important first step toward finding a treatment,” Dr. Klee emphasizes.

“RENEW embodies the spirit of what Mayo is all about — the needs of the patient come first. This is a lifelong pursuit for us,” Dr. Klee says.

“My hope is that someday down the road, maybe in another few years, we’ll be able to call the Diffendorfer family back saying we’ve identified a therapy,” he says. 

This article was first printed on the blog of the Mayo Clinic Center for Individualized Medicine.

____________________________________________ Other Mayo Clinic medical analysis web sites:

  • Research at Mayo Clinic Mayo Clinic Laboratories Center for Individualized MedicineCenter for Regenerative Biotherapeutics Center for the Science of Health Care DeliveryMayo Clinic Comprehensive Cancer Center
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