Research Suggests Path to Earlier Genetic Disorder Diagnosis

Virginia Tech study finds early brain development clues for Leigh syndrome

Jan. 28, 2026 at 3:31am

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Virginia Tech researchers have discovered an indication in the brain that may help doctors identify children suffering from the rare genetic disease Leigh syndrome earlier. Their findings, published in EMBO Molecular Medicine, show developmental defects and sluggish activity in specialized neural stem cells soon after birth, as well as a malformed area centered on the corpus callosum, the main communication pathway between the brain's left and right sides.

Why it matters

Leigh syndrome is a severe neurological disorder that typically appears in infancy and progresses rapidly, leading to limited treatment options and poor survival rates. Without screening, children with Leigh syndrome appear to develop normally until around 9-10 months old, when symptoms start to emerge. This new research suggests there may be early signs in the brain that could enable earlier diagnosis and potential treatment.

The details

The researchers, led by Alicia Pickrell of the Virginia Tech School of Neuroscience, worked with a mouse model of Leigh syndrome. They observed developmental issues and sluggish activity in neural stem cells shortly after birth, as well as a malformed area around the corpus callosum, the main communication pathway between the brain's left and right sides. This suggests the brain is not developing properly from an early stage in Leigh syndrome patients.

  • The research findings were published recently in EMBO Molecular Medicine.
  • A previous clinical study from the Children's Hospital of Philadelphia showed early signs of neurodevelopmental delay can often be seen before Leigh syndrome impacts motor and respiratory functions.

The players

Alicia Pickrell

Associate professor in the School of Neuroscience at Virginia Tech and lead researcher on the study.

Paul Morton

Assistant professor in the Virginia-Maryland College of Veterinary Medicine and collaborator on the study.

Sahitya Biswas

Student in the Translational Biology, Medicine, and Health Graduate Program at Virginia Tech and collaborator on the study.

Children's Hospital of Philadelphia

Conducted a previous clinical study that showed early signs of neurodevelopmental delay in Leigh syndrome patients.

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What they’re saying

“If there's not any real sign that you have something wrong with you at birth, they're not going to recommend genetic testing or genetic counseling.”

— Alicia Pickrell, Associate professor, School of Neuroscience, Virginia Tech (Mirage News)

“The study is saying that these mutations don't impact these patients out of the blue. These children were born with them.”

— Alicia Pickrell, Associate professor, School of Neuroscience, Virginia Tech (Mirage News)

“From the data we've been collecting, it looks like it's just not developing the way it should. The neural stem cells aren't generating the types of cells they are supposed to.”

— Alicia Pickrell, Associate professor, School of Neuroscience, Virginia Tech (Mirage News)

What’s next

The researchers hope that by identifying these early brain development issues, there may be a path toward earlier diagnosis of Leigh syndrome and getting patients into clinical trials sooner.

The takeaway

This research suggests there could be detectable signs of Leigh syndrome in the brain from an early age, which could enable earlier diagnosis and potential treatment for this devastating genetic disorder that typically appears without warning in infancy.