Smart scissors become DNA detectives: CRISPR detects diseases in blood
Kavish Kohabir investigated how we can make blood-based genetic testing more accurate, faster, and more accessible. Such tests are important for prenatal screening and cancer diagnosis, among other things, but are hampered by the fact that the relevant DNA in blood is often scarce and fragmented.
His research focused on two related questions. First: how does this circulating DNA arise, and can we exploit patterns in this fragmentation to improve diagnostics? Second: how can new molecular detection techniques be used to detect genetic abnormalities with sensitivity and precision? The concrete impetus for his research is the growing need for cost-effective, reliable, non-invasive genetic testing that can also be used outside of specialized laboratories.
Kohabir explains that DNA fragments in blood are not randomly generated but exhibit recognizable patterns that convey information about their origin, for example, whether they originate from a tumor or from an unborn child. This so-called "fragmentomics" can be used to make diagnostic tests more sensitive and specific.
He also demonstrates that CRISPR, a technology primarily known for genetic modification, can also be used as an extremely precise "molecular detector" for genetic abnormalities. By intelligently optimizing CRISPR systems, we could detect specific mutations faster and more reliably, even without complex laboratory equipment.
Together, these findings demonstrate that combining knowledge of DNA fragmentation with CRISPR technology offers possibilities for genetic diagnostics based on a simple blood test.
Kohabir's findings contribute to the development of future blood tests that should not only be more accurate but also simpler and less expensive.
In the future, this could result in a rapid (self-)test that can help doctors detect tumor mutations or monitor the effect of treatment from a blood sample, without the need for large-scale DNA sequencing. These insights can also contribute to more reliable screening with less invasive interventions in prenatal care.
Just as we saw with the development of COVID self-tests, CRISPR-based tests could potentially be used in general practices or hospitals without specialized laboratories in the future. This aligns with current developments in personalized care, early detection, and diagnostics closer to the patient.mented DNA, this thesis bridges fundamental molecular insight and translational diagnostic innovation.
More information on the thesis