Genetics and Genomics

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Section on Genetics and Genomics
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Publication Spotlight

Genetic Modifiers of Cystic Fibrosis Lung Disease Severity: Whole Genome Analysis of 7,840 Patients

Authors: Yi-Hui Zhou, Paul J Gallins, Rhonda G Pace, Hong Dang, Melis A Aksit, Elizabeth E Blue, Kati J Buckingham, Joseph M Collaco, Anna V Faino, William W Gordon, Kurt N Hetrick, Hua Ling, Weifang Liu, Frankline M Onchiri, Kymberleigh Pagel, Elizabeth W Pugh, Karen S Raraigh, Margaret Rosenfeld, Quan Sun, Jia Wen, Yun Li, Harriet Corvol, Lisa J Strug, Michael J Bamshad, Scott M Blackman, Garry R Cutting, Ronald L Gibson, Wanda K O'Neal, Fred A Wright, Michael R Knowles
Description: Cystic fibrosis is associated with significant mortality and morbidity, however the severity of lung disease in individuals with cystic fibrosis can vary substantially. Identifying genetic modifiers of severity can help to better understand prognosis and to guide the development of novel therapeutics. In this study, whole genome sequencing (WGS) data on 4,248 unique individuals with Cystic Fibrosis, pancreatic insufficiency and lung function measures were combined with imputed genotypes from an additional 3,592 PI patients from the US, Canada, and France to identify associations between single nucleotide polymorphisms and the quantitative Kulich Normal Residual Mortality Adjusted (KNoRMA) lung disease severity phenotype. Pathway analyses identified novel associations with genes that have key roles in organ development, and which may relate to dysanapsis and/or variability in lung repair among individuals with cystic fibrosis. These results confirmed and extended previous GWAS findings and the WGS data provide finely mapped genetic information to support mechanistic studies. 

 

Ivana Yang

Section Chair
Ivana Yang, BS, PhD

 

Chair: Ivana Yang, BS, PhD
Co-Chair: Rachel Kelly, MPH, PhD

Welcome to the ATS Section on Genetics and Genomics website! Our Section welcomes all members of the ATS, regardless of Assembly affiliation, who are interested in genetics, genomics, and other “omics” technologies (proteomics, metabolomics, metagenomics, etc.) as they relate to the many diseases encompassing the fields of respiratory, critical care, and sleep medicine. Our Section has grown to over 1,000 members making us one of the largest society-based interest groups for genetic and genomic investigators focused on respiratory, critical care, and sleep medicine research. The Section on Genetics and Genomics resides within Allergy, Inflammation, and Immunology, but our current members belong to numerous ATS assemblies reflecting the diverse application of omics approaches across our membership.

Genetics and genomics are at the forefront of scientific research and medical practice into the 21st century, and the number of investigators focusing on these technologies is rapidly expanding. Although the diseases encompassed by the ATS are diverse, omics-based approaches have common, overlapping themes that are beneficial to informing research and the application of cutting-edge technologies. As outlined in our mission statement, we aim to facilitate the exchange of ideas across omics researchers while increasing the knowledge and appreciation of genomics research across the broader ATS community. Section members have impacted the exchange of ideas in ATS through the programming of scientific events including quarterly journal clubs and webinars, workshops, scientific symposia, and the annual curation of over 200 abstracts submitted for the international conference. In addition, members have led and contributed to published research statements and workshops though the ATS, ERS, and NHLBI on lung precision medicine research, high-throughput sequencing, respiratory disease-related healthcare disparities, and the management of severe asthma resulting in national and international impact.

We encourage all clinicians, scientists, post-doctoral fellows, and trainees interested in genetics and genomics research to learn more about our Section. We hope to increase the understanding of omics technologies and their applications to enhance the ability of our scientific community to address impactful research questions which could lead to precision approaches for patient care.

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