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The database has taken years to develop, given that heart tissue is difficult to obtain. It draws on advanced molecular analyses of diseased hearts from transplant patients as well as healthy donor hearts that could not be used in care.

A groundbreaking collaboration

Through close collaboration between Gothenburg and Lund, research teams have analyzed more than a hundred hearts using techniques such as whole genome sequencing, single-cell gene expression profiling, and high-resolution microscopy. This material now lets scientists tease apart temporary and stochastic variations from true biological signals and start tackling questions that used to be out of reach.

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“We want to understand why certain heart muscle diseases appear early and often run in families, but also those that are linked to aging. For example, cardiac amyloidosis seems far more common than we thought and is an underdiagnosed cause of heart failure in older adults,” says Gustav Smith, Professor of Cardiology at Sahlgrenska Academy, University 91̽��.

When research meets patients

As a cardiologist, he meets patients where a hereditary risk is often prominent—but where there are still no ways to prevent the disease from developing.
“The patient meeting provides a clear perspective on what really matters in research. We can monitor and start treatment early, but we can’t yet stop the disease from emerging. That’s the unmet need we want to address,” he says.

That’s exactly why the database and genetic analyses are so critical. Over time, they could pave the way for entirely new treatments—maybe even preventive strategies using gene therapy.
“In ten years, I believe genetic information will guide both risk assessment and treatment. New techniques, like CRISPR gene editing and RNA silencing, make it possible to actually repair faulty mechanisms. That could be a game changer in how we treat heart muscle disease—something only possible thanks to the combined efforts of many researchers and disciplines,” says Gustav Smith.

He also works within major international research networks that gather genetic data from millions of people—collaborations that make it possible to take on questions no single group could solve on its own.

This year, Gustav Smith received the Fernström Young Investigator Award at Sahlgrenska Academy, a recognition of the joint efforts of his research team and collaborators, both in Sweden and internationally.