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First compiled list of genes and proteins that cause the 70 most common genetic diseases

Headshot of Chuck Sanders wearing a light green colored shirt, multi-colored tie, and eyeglasses.
Chuck Sanders

Research led by Chuck Sanders, associate dean for research in the School of Medicine Basic Sciences and professor of biochemistry and medicine, and first-author Tucker Apgar, an undergraduate student in the Sanders lab, compiled the first comprehensive list of genes and proteins that cause the 70 most common genetic diseases. Their article was published in Protein Science on September 13. We sat down with Chuck Sanders to learn more about this exciting research.

 

 

What issue/problem does your research address?

This paper compiles a list of the genes and proteins that cause the 70 most common genetic diseases. Believe it or not, there does not appear to have previously been a compilation like this.

What were your findings? How can non-expert readers understand their significance?

Headshot of Tucker Agpar wearing a blue t-shirt.
Tucker Agpar

We found that there are about 70 genetic diseases that afflict at least one in 20,000 people (in ethnicities for which data is available). While many of these diseases are classified as “rare” diseases, these 70 diseases are not that rare! In fact, successful drug development efforts to treat any of these diseases would not only be a benefit to society but would also likely be profitable. Indeed, one of the diseases on the list—cystic fibrosis—is a sort of poster child for the others in that a recently-developed drug cocktail is expected to significantly extend the lifetimes of a great many patients (and is considered to be a billion-dollar therapeutic).

What do you hope will be achieved with the research results in the short and long terms?

We hope that this list will be used to help motivate new projects (especially by young investigators!) to unravel how the known causative gene mutations trigger each disease and to spur rational therapeutics development.

What are the societal/environmental/economic benefits of this research?

The promotion of treatments and cures for diseases that may previously have been overlooked as promising targets for new therapeutics.

Where is this research taking you next? What will you personally be doing, or how will other researchers build on this work?

We would like to start a new project based on one of the gene/protein/disease entries found in this compendium.

Funding

This work was supported by the NIH. Partial support for Apgar was provided by a Vanderbilt University Summer Research Program award.

Go Deeper

The article, “Compendium of causative genes and their encoded proteins for common monogenic disorders,” was published in Protein Science on September 13.

 

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