We’ve loved sharing the Beyond the Bench series with audiences this year. So far, we’re hearing from viewers how much they value seeing the human side of genomics, and that it’s refreshing to hear scientists speak openly about the experiences and environments that shape how they think. They’re also tuning in for the science itself, from cancer research and neurogenomics to breakthroughs in plant and animal sciences.
The series pulls viewers into the defining moments where personal passion meets the scientific questions that spark discovery. In Dr. Birgitt Schuele’s feature, that connection is especially clear.
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The steps behind neurological research
Dr. Schuele, Associate Professor of Pathology at Stanford University School of Medicine, leads a lab focused on gene discovery and novel stem cell technologies to better understand neurodegenerative disease. Her team generates patient-derived stem cell models to study the underlying causes of Parkinson’s disease and related disorders, with the goal of identifying biomarkers and developing new therapeutic strategies.
Outside the lab, hiking is a hobby that provides balance for Dr. Shuele. She explains how long stretches on the trail give her space to think through complex problems and return to the lab with renewed clarity. Her travels have taken her across South America, including Peru and Brazil, where her research into Spinocerebellar Ataxia Type 10 (SCA10) has brought her into close collaboration with affected families and communities.
SCA10 is a progressive neurological disorder caused by a repeat expansion. It is rare and primarily found in South America, making fieldwork and local partnerships essential to understanding the disease. For Dr. Schuele and her team, studying SCA10 means piecing together both its genetic roots and its clinical impact. Her lab focuses on gene discovery and novel stem cell technologies, generating patient-derived stem cell models to better understand neurodegeneration and develop biomarkers and new therapeutic strategies. In SCA10 and many related conditions, the root cause lies in repetitive DNA.
How repeat expansions drive disease
Repeat expansion diseases arise when short DNA sequences, known as tandem repeats, expand beyond their normal length. Tandem repeats consist of repeated units of DNA that sit next to one another in the genome. These regions are among the most mutable elements in human DNA and represent one of the most abundant forms of structural variation.
When repeat length crosses a certain threshold, it can disrupt gene function, alter RNA processing, or interfere with protein production. More than fifty disorders are linked to short tandem repeat expansions, including Huntington’s disease, fragile X syndrome, and several ataxias. In many cases, the number of repeats correlates with disease severity and/or age of onset, making precise measurement critical for both research and clinical interpretation.
Yet these regions are notoriously difficult to analyze. Their repetitive structure and variable length challenge conventional short-read sequencing, which often cannot span the entire repeat. Reads may misalign, collapse multiple repeat copies into a single signal, or fail to resolve sequence interruptions within the repeat tract. As a result, the true size and structure of an expansion can be difficult to determine with short reads. HiFi sequencing overcomes these obstacles.
HiFi sequencing enables accurate repeat profiling
By combining long read lengths with high per-base accuracy, HiFi reads can span entire repeat regions in a single molecule. This allows direct measurement of repeat length, detection of sequence interruptions within the repeat, and assessment of methylation patterns that may influence gene expression.
Targeted approaches such as the PureTarget repeat expansion panel further enhance this capability. Designed to capture and comprehensively genotype repeat expansion loci relevant to neurological disease and carrier screening research, PureTarget enables accurate sizing and characterization of challenging repeat regions without relying on fragmented read assembly. Because HiFi reads are both long and highly accurate, they preserve the integrity of complex repeat structures that might otherwise be misrepresented.
Across the diversity of repetitive variants, the underlying need is the same. We must be able to measure repetitive regions precisely, at scale, and in context. HiFi sequencing offers both the promise and the growing proof that we can do exactly that.
Beyond the Bench connects people and progress
Dr. Schuele’s story makes us realize that science happens everywhere. It is performed in labs but can be shaped by landscapes and communities. BEYOND THE BENCH brings gives us access to some of these stories, showing how personal perspective and technological innovation come together to move genomics ahead.
If you want to watch the full episodes, go here.