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We might think of our DNA as a fixed, linear molecule which passively provides the blueprint for the instructions for our bodies to function while remaining unchanged. In reality, this vast molecule is constantly being unfolded, refolded, replicated, damaged and repaired, in continuous response to daily life. A young researcher at the University of Copenhagen is applying cutting-edge microscopy and molecular techniques to potentially help us understand its stability in more detail, and to identify better treatment options for people living with a rare and often debilitating neurodevelopmental disorder known as Cornelia de Lange syndrome (CDLS), which might have its origins in DNA instability.

Fena Ochs has pioneered ultra high-resolution microscopy allowing detection of molecular activity in unprecedented detail, and now she is establishing a research group at the University of Copenhagen, which will focus on answering the question of how our cells keep their DNA stable in the 3-dimensional space inside the nucleus, and in particular, on the role of the cohesin complex, a cellular machinery which maintains DNA’s 3D architecture.

“The cohesin complex is an important machinery inside the cell, with numerous functions, including keeping our DNA stable. People who develop mutations in the genes encoding this complex are at risk of developing the rare genetic disease CDLS, which is a disease that’s been known for about 100 years, but which is poorly understood, and for which there is no treatment beyond symptom relief.”

Affecting around 60 individuals in Denmark today, CDLS is a neurodevelopmental disorder which results in symptoms across many different parts of the body. Patients may suffer from a range of physical and intellectual disabilities, including short stature, limb abnormalities and developmental delays. There is limited research and support for patients suffering from this disorder, and one of the key aims of this project is to build a comprehensive overview of the molecular causes of this disease, which in turn could directly influence improvements to treatment.

“I’m a fundamental biologist but being at the Biotech Research and Innovation Centre with close connections to Righospitalet and direct contact to clinicians who can access patient cohorts allows us to translate what we do to help patients. This is really a blend of understanding cohesin biology, understanding what is happening in patients, then feeding back to our clinical colleagues with suggestions for clinical improvements.”

At this early stage in her career, Fena Ochs recognises the opportunities that having a five-year fellowship can bring, as a springboard towards many years of research into the topic of DNA stability. She says, “This fellowship gives us a unique opportunity to do groundbreaking research, to comprehensively research cohesin, and to understand its implications for CDLS.”