Jackson Lab gets $3.4M purse for genetic disorder research

Courtesy/Jackson Lab Jackson Lab breeds mice for research, including this C57BL/6J “Black 6” mouse, the most widely used inbred mouse strain in the world. It will look for new mouse models and data resources with the new NIH grant.

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By Staff

A research group at the Jackson Laboratory in Bar Harbor has received a $3,436,466 boost from the National Institutes of Health that will help spearhead the development of new data resources and mouse models to better understand Mendelian genetic disorders that afflict approximately 20 million to 30 million Americans.

Mendelian genetic disorders are diseases and conditions that occur as a consequence of inheriting certain gene variants from each parent. Examples of Mendelian genetic disorders include cystic fibrosis, congenital heart disease and congenital bone diseases.

According to Jackson Lab, the most efficient research tool for discovering the basic genetic basis for Mendelian diseases is by sequencing patients’ protein-coding genes, also known as whole-exome sequencing.

Although it is considerably faster and more efficient than other methods for discovering Mendelian disease genes, like whole-genome sequencing, the success rate is slightly less than 50%.

This is when the mice come in.

Researchers studying Mendelian and similar genetic disorders in mice have new techniques and technologies at their disposal that create new mouse models, which when paired with whole-exome sequencing by researchers, have increased the rate of mutation discovery and validation tenfold, according to Jackson Labs.

“With the promise of surmounting past limitations our goal is to develop research tools — mouse models and databases — that facilitate exploration and modeling of the full spectrum of mutations that cause Mendelian genetic disorders,” said senior research scientist Laura Reinholdt, who leads the research group at Jackson Labs that received the Mendelian genetic disorders research funding.

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