Advancements in genetic sequencing find long-awaited answers for those with rare diseases

Advances in genetic sequencing technology give teen correct diagnosis and a path forward

(COLUMBUS, Ohio) –  There are an estimated 10,000 diseases caused by a single gene variant, and until recently, millions of people living with one of these genetic conditions were left searching for answers. Now, advancements in genetic testing are allowing scientists at Nationwide Children’s Hospital to provide answers for those like Summer Nagele, a high school senior who has suffered with muscle weakness, extreme fatigue and developmental issues since birth.

“We tested her for a common set of genetic disorders that would link her symptoms together and she didn’t have any of them,” said Anne Connolly, MD, chief of the Division of Neurology at Nationwide Children’s Hospital and a member of the Center for Gene Therapy in the Abigail Wexner Research Institute. “If you know Summer, you know she’s very active and truly wants to improve and to be able to do the things her peers can do. So running out of energy in the afternoon or evening, not being with friends, not doing extracurricular activities very much impacts her life.”

Dr. Connolly met Summer when she was eight years old. Although she was able to find medications and therapies that eased her symptoms, she vowed that one day she would have a clear diagnosis for Summer’s condition.

“I make a commitment to my patients and their families that ‘I will walk with you.’ Even if I don’t know the diagnosis today, I will keep trying,” Dr. Connolly said. “The possibility of diagnosis and treatment is out there, and we don’t want to leave a stone unturned for a rare disorder if it could mean a child has a better quality of life.”

As Summer grew, genetic medicine advanced, and when she was 16 she received whole exome sequencing at Nationwide Children’s Hospital’s Steve and Cindy Rasmussen Institute for Genomic Medicine, cutting-edge technology that examines DNA sequences that impact how genes function. 

“We communicate the patients’ symptoms to scientists in the lab, and they are able to look through all of their genes to try to assess whether any alterations there could be explaining those symptoms,” said Alayne Meyer, MS, CGC, a licensed genetic counselor at Nationwide Children’s Hospital. “If we can, we also test both parents along with the child to help us understand if changes are inherited from a family member who doesn’t have any symptoms or if they are brand new mutations in the child that we’re seeing.”

Summer is now one of about 50 people to be diagnosed with Birk-Barel Syndrome worldwide. But Dr. Connolly’s journey with Summer is far from over. Now that they have been able to pinpoint an exact gene variant, Dr. Connolly will continue working with researchers to discover new treatments for Summer, as well as others living with rare genetic diseases.

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The Nagele family meets with Anne Connolly, MD, at Nationwide Children’s Hospital. Through advancements in genetic testing, Dr. Connolly was finally able to give the Nageles a name for Summer’s rare genetic disorder, which they hope will lead to new treatments.

Summer Nagele gives her doctor, Anne Connolly, MD, her softball photo during an appointment at Nationwide Children’s Hospital. Dr. Connolly met Summer when she was eight years old and 13 years later she was able to fulfill a promise she made to Summer by giving her a concrete diagnosis for her rare genetic disease.

Summer Nagele undergoes lung capacity testing as part of her therapy at Nationwide Children’s Hospital. Summer was born with a rare genetic disease that causes severe muscle weakness and recently received an accurate diagnosis through advanced genetic testing.

Researchers in the Steve and Cindy Rasmussen Institute for Genomic Medicine at Nationwide Children’s Hospital examine the results of exome sequencing, advanced technology that allows scientists to identify gene variants and diagnose rare genetic diseases.

Anne Connolly, MD, holds a note written on the back of a photo from her patient Summer Nagele. Dr. Connolly promised Summer that she would one day find a name for her mysterious genetic disease, a promise she was able to keep through advanced genetic testing when Summer was 16.

Anne Connolly, MD, has been treating Summer Nagele, 17, for a rare genetic disease for most of her life. Dr. Connolly was finally able to give Summer an accurate diagnosis of Birk-Barel Syndrome through advancements in genetic testing at Nationwide Children’s Hospital.



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