This is the blog for GW students taking Human Evolutionary Genetics. This site is for posting interesting tidbits on: the patterns and processes of human genetic variation;human origins and migration; molecular adaptations to environment, lifestyle and disease; ancient and forensic DNA analyses; and genealogical reconstructions.

GWHEG figure

GWHEG figure

Thursday, March 5, 2020

Gene editing strategy for HBB gene mutations -Potluck 3/10/20 A.Williams

Sickle cell disease (SCD) is one of the most highly prevalent diseases in the world with over 300,000 babies born with it each year due to the benefit of heterozygous carriers in preventing malaria. It has recently been the target of CRISPR technology due to the fact that it is caused by a single point mutation on the HBB gene and should therefore be an easier target in a relatively simpler pathway. Over 80% of patients with this disease do not have access to bone transplant treatment. This study announces the creation of two guide RNAs (gRNAs) and their success in targeting the point mutation in human cells. Moreover, they show proof of concept that longer gRNAs are more effective at targeting specific sequences with a lower chance of non-target disruption. Although much more testing is needed before this method is used directly in humans, it is a promising start in creating another treatment option for patients with the most severe form of SCD (HbSS) when bone transplant is not an option.

-Alexis W.

https://doi.org/10.1016/j.gene.2020.144398

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