Asthma is the most common chronic illness in childhood and it is widely recognized that there is a major genetic component to asthma susceptibility. Previous studies of the entire genome have identified common variants in more than 15 genes significantly associated with asthma or related phenotypes. While the majority of these findings have been replicated they account for only a small portion of the genetic contribution to asthma. Our goal is to now find genetic variants which are rare in the population, but may substantially contribute to the genetics of asthma. Here, we hypothesize a model whereby individual families are segregating “family-specific” mutations contributing to asthma susceptibility. We hypothesize that at least one family-specific mutation is necessary, but not sufficient for disease development within individuals in the family.
This project utilizes a family-based whole-exome sequencing strategy (sequencing only the protein coding regions of the genome) to identify family-specific variants segregating with asthma. Families with three or more children over the age of five, at least two of whom were reported to be asthmatic, will donate blood or saliva samples to isolate DNA and be interviewed about asthma and asthma symptoms in the both the parents and children. Our goal is to identify rare genetic mutations segregating with asthma and look for clusters of mutations in the same genes across the families in the study.
To date, we have recruited 248 families. DNA sequencing is currently underway and will continue in 2017.
We thank you for your participation in this project. If you have any questions, please contact us at firstname.lastname@example.org or 203-737-6229. To read more about recent findings from our studies, click here to read our latest newsletter.
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