This Gene Editing Approach Could Help Treat Genetically Linked Rare Diseases

According to a story from, a team of scientists at the University of Massachusetts Medical School have successfully developed a strategy for editing genes that could be used to treat rare genetic diseases. The team was able to use this approach to rectify genetic mutations found in mouse models of such diseases.

Hidden Potential

The first author of the study, Dr. Dan Wang, says that the new strategy could have great potential in helping to treat genetically linked rare diseases. The ultimate goal is that the gene editing approach could eventually lead to therapies that could ideally be utilized in a large number of patients with rare diseases.

About the Study

One of the first steps of the research was to create a mouse model which more closely resembled human mutations. This involved making sure that that model mice had two distinct mutated gene copies. This is more accurate type of model, because human patients with genetic diseases have a different copy from each parent. The editing machinery is known as Cas9/sgRNA. The system was delivered with recombinant adeno-associated viral vectors.

One Will Do It

In many genetic rare diseases, a single gene copy without the disease causing mutation is sufficient to allow for normal function. In a sense, this approach allows for a rearrangement of both gene copies. In this process, one of the copies is more or less unchanged, but the other is modified in order to resolve the mutation. This is all it takes for these rare diseases to get treated successfully and for patients to see significant benefit. This mechanism of action was also part of the reason why it was essential to make a more accurate mouse model.

Broad Applications

In the experiment the researchers were able to illustrate the effectiveness of this approach in models of two rare diseases: Hurler syndrome and tyrosinemia type I. In both diseases, this strategy appeared to be effective.

While it is going to take more research before this new approach is utilized in humans, there is certainly significant potential for it to be effective. The main advantages include its applicability in a diverse array of mutations and the overall flexibility of the approach’s design. To learn more about this study, click here.

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