The Genetics of Asthma – Frontiers for Treatment and Prevention

In the United States, there are more
than 25 million individuals who have asthma. About 7, more than 7 million of these individuals are children
under the age of 18. The total cost of asthma is more than 50 billion dollars per year in the United
States. And this is due both to the direct health care costs and loss of the ability of students to go to school and their parents to go to work. It has long been shown that there is a familial component to asthma, where within particular families there are multiple
individuals who all develop asthma. This indicates that there are likely inherited genetic mutations that are contributing to the
susceptibility to develop asthma. If we can identify these genetic variants we may be able to understand not only more about the biology of asthma but also what may be able to be done to prevent and treat asthma. In a study that was led by Dr. Michael Bracken here in the
Department of chronic disease epidemiology, he was able to show that children born to asthmatic mothers were at an increased risk to develop asthma. At the age of six. Using individuals from the study. we were able to look at genetic
variants throughout the entire genome to identify a cluster of genetic variants that increase the susceptibility of these kids to develop asthma. So we’re following up on this work
by recruiting families with multiple children with asthma and without asthma, as well as their parents to do high throughput sequencing within
these families to look at genetic variants that are rare within the population that may be segregating with asthma within these families. The other interesting aspect about asthma is that it’s not a purely
genetic disease. There are genetic mutations that are contributing to disease but there’s also a strong influence from the environment. And one of the things that we are
going to try and understand as we continue with this work is how genetic mutations and the environment interact in order to increase susceptibility to disease. Clinicians will hopefully be able to use this genetic information to identify individuals who may respond to particular treatments and those that may not be able to
respond, so that they can tailor treatments to a specific individual. Clinicians may also be able to
screen children at an early age, who have not yet developed asthma, but who may be at risk of developing
asthma, so that we can provide earlier
treatments and earlier intervention.

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