Publications by authors named "Lucas Barwick"
Background: Chronic obstructive pulmonary disease (COPD) and idiopathic pulmonary fibrosis (IPF) are debilitating diseases associated with divergent histopathological changes in the lungs. At present, due to cost and technical limitations, profiling cell types is not practical in large epidemiology cohorts (n > 1000). Here, we used computational deconvolution to identify cell types in COPD and IPF lungs whose abundances and cell type-specific gene expression are associated with disease diagnosis and severity.
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- Latin Americans are often overlooked in genetic studies, which can widen gaps in personalized medicine due to the challenges of accessing genetic data and consent processes.
- The Genetics of Latin American Diversity (GLAD) Project compiles genetic information from over 53,000 individuals across various regions to explore diverse ancestry and gene flow in the Americas.
- GLAD includes a tool called GLAD-match to align external genetic samples with its database while protecting individual privacy, thus supporting more inclusive genomic research and enhancing personalized medicine for Latin Americans.
Article Synopsis
- Genome-wide association studies (GWAS) have successfully identified genes linked to telomere length, but previous research hadn't validated these findings until now.
- In a large analysis involving over 211,000 people, the study discovered five new signals linked to telomere length and highlighted the importance of blood/immune cells in this area.
- The researchers confirmed that the genes KBTBD6 and POP5 truly affect telomere length by demonstrating that manipulating these genes can lengthen telomeres and that their regulation is crucial for understanding telomere biology.
Article Synopsis
- Chronic obstructive pulmonary disease (COPD) and idiopathic pulmonary fibrosis (IPF) are lung diseases that exhibit different cellular types and gene expressions, impacting disease diagnosis and severity.* -
- A study analyzed RNA-seq data from over 1,000 lung tissue samples to investigate the abundance and gene expression of thirty-eight cell types related to COPD and IPF.* -
- Findings revealed that certain cell types, such as aberrant basaloid cells and macrophages, were linked to disease severity, with notable differences in cell populations between IPF, COPD, and control subjects.*
Clonal Somatic Mutations in Chronic Lung Diseases Are Associated with Reduced Lung Function.
Am J Respir Crit Care Med
December 2023
Article Synopsis
- Human lungs have a high rate of somatic mutations due to exposure to harmful substances like tobacco smoke, but their link to lung disease and functionality is unclear.
- A study analyzed somatic mutations in over 1,200 lung tissue samples to investigate their relationship with chronic lung diseases such as COPD and IPF.
- Findings revealed that clonal somatic mutations are more common in individuals with IPF and are associated with worse lung function and disease severity, emphasizing their importance in lung disease genetics.
Article Synopsis
- - This study investigates the genetic basis of telomere length (TL) across a diverse group of 109,122 individuals from various ancestries, marking the first such analysis that includes non-European populations.
- - Researchers identified 59 significant genetic variants linked to TL, with 20 novel associations; these findings suggest that the genetic factors influencing TL are consistent across different populations.
- - The analysis further revealed connections between telomere length and increased cancer risk, highlighting the potential implications of telomere genetics in age-related diseases.
Background: Chronic obstructive pulmonary disease (COPD) and idiopathic pulmonary fibrosis (IPF) are characterized by shared exposures and clinical features, but distinct genetic and pathologic features exist. These features have not been well-studied using large-scale gene expression datasets. We hypothesized that there are divergent gene, pathway, and cellular signatures between COPD and IPF.
View Article and Find Full Text PDFAlpha-1 Antitrypsin MZ Heterozygosity Is an Endotype of Chronic Obstructive Pulmonary Disease.
Am J Respir Crit Care Med
February 2022
Multiple studies have demonstrated an increased risk of chronic obstructive pulmonary disease (COPD) in heterozygous carriers of the AAT (alpha-1 antitrypsin) Z allele. However, it is not known if MZ subjects with COPD are phenotypically different from noncarriers (MM genotype) with COPD. To assess if MZ subjects with COPD have different clinical features compared with MM subjects with COPD.
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- The Trans-Omics for Precision Medicine (TOPMed) programme aims to understand the genetic factors behind heart, lung, blood, and sleep disorders to enhance their diagnosis, treatment, and prevention.
- TOPMed uses whole-genome sequencing from diverse individuals, revealing over 400 million genetic variants, many of which are rare and offer insights into human evolution and disease mechanisms.
- The programme provides tools like a variant browser and access to genomic data, improving the capability of genome-wide association studies to include rare variants that could have significant health implications.
Herein we present major updates to the National NeuroAIDS Tissue Consortium (NNTC) database. The NNTC's ongoing multisite clinical research study was established to facilitate access to ante-mortem and post-mortem data, tissues and biofluids for the neurohuman immunodeficiency virus (HIV) research community. Recently, the NNTC has expanded to include data from the central nervous system HIV Antiretroviral Therapy Effects Research (CHARTER) study.
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