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Researchers at the Crick are tackling the big questions about human health and disease, and new findings are published every week.

Our faculty have picked some of the most significant papers published by Crick scientists, all of which are freely available thanks to our open science policy.

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Mass screening of genetic variants can clarify disease risk

Researchers have demonstrated that a genetic method called ‘pooled prime editing’ can screen hundreds of variants in a gene at once and identify which variants affect the gene’s function. The team optimised prime editing to engineer large numbers of variants at the same time in human cells, testing this on two tumour suppressor genes, SMARCB1 and MLH1. These experiments identified loss-of-function variants in areas of the genes matching reports in clinical databases, showing that pooled prime editing can efficiently screen thousands of variants at once, either for basic research to assess variants, or one day for use in the clinic as a diagnostic tool.

High-throughput screening of human genetic variants by pooled prime editing

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Published in Cell Genomics

Published

Dots which show the different variants of VHL

Researchers map the effects of all potential changes in key cancer gene

Researchers at the Francis Crick Institute have mapped all the possible outcomes of changes to a tumour-suppressing gene called VHL. They used a new method called saturation genome editing to track the function of over 2,000 different VHL variants in human cells over time, finding that most variants did not impact the survival of the cells, suggesting that people with these variants may not have a significantly higher risk. Other variants were shown to be faulty and caused the cells to die, suggesting people with these variants could be monitored for cancer risk. This could also identify people with VHL mutations who would benefit from certain drugs like belzutifan.

Saturation genome editing maps the functional spectrum of pathogenic VHL alleles

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Published in Nature Genetics

Published

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Research case studies 

Explore a selection of recent case studies that spotlight particular areas of research at the Crick.