Research a source of hope

So far no cure has been found for prion diseases. These conditions are triggered by misfolded proteins – prions – that spread in the brain and destroy nerve cells. Researchers at University Hospital Zurich are looking for the genes responsible, with the aim of creating the basis for developing drugs to treat the disease.

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The first shock for Sonia Vallabh was the death of her 52-year-old mother. She died of a genetically-determined prion disease, which is why Sonia also had a test. This was when the second shock came: She discovered that she too carried the genetic mutation and therefore ran a very high risk of sometime in her life also contracting the disease.

Prion diseases are reminiscent of the mad cow disease tragedy of the 1990s, when people who had eaten meat from affected animals contracted Creutzfeldt-Jakob disease. Thanks to more stringent checks, this risk no longer exists. But there are still other forms of human prion disease which arise particularly on the basis of genetic predisposition – as in Sonia Vallabh’s case.

These rare diseases are triggered by misfolded proteins in the brain, so-called prions, which spread from one nerve cell to the next, destroying them in the process. The precise mechanisms are not sufficiently understood, and no treatment has been found so far. “So it’s all the more important to move research ahead,” says Sonia Vallabh.

Research of this type is also being done at University Hospital Zurich (USZ). At the Institute of Neuropathology, neuroscientist Elena De Cecco is investigating the genetic basis of prion diseases. “We want to pave the way for a treatment which nips the spread of prions in the brain in the bud,” she explains.

Doing this means knowing what genes facilitate the spread of the prions. In her project, funded by the Novartis Research Foundation’s FreeNovation program, De Cecco is examining the entire human genome, using novel CRISPR-Cas9 technology on lab cell cultures. With these “gene scissors” she can deactivate individual genes and observe whether prions are still able to move from infected to healthy cells. Any gene could be involved, and every single “suspect” – a total of more than 20,000 genes – is being investigated. Once all the genes involved have been identified it will be possible to develop drugs that prevent the spread of prions.

Sonia Vallabh also hopes that will happen soon. She responded quickly to her test result: In 2011 she and her husband left their jobs to study natural sciences. Now they both do research into prion diseases.

Sonia Vallabh and Eric Vallabh Minikel head a lab researching prion diseases at the Broad Institute of MIT and Harvard in Boston. The institute specializes in biomedical and genetic research. (Picture: Sagar Vallabh)

100% financed

Novartis Research Foundation’s FreeNovation program