# Integrative 'Omics of Transcriptome Complexity in COPD

> **NIH NIH K01** · BRIGHAM AND WOMEN'S HOSPITAL · 2024 · $177,987

## Abstract

PROJECT SUMMARY
Aabida Saferali, PhD, is an academic researcher with a focus on the genetics of respiratory diseases, whose
overarching career goal is to become an independent investigator with the skill set to utilize integrative ‘omic
techniques for the improved biological understanding and clinical management of chronic obstructive
pulmonary disease (COPD), one of the leading causes of death worldwide. The proposed research combines
her prior experience in genetics and transcriptomics with training in long-read sequencing, advanced
integrative ‘omics, and biostatistics, in order to address the fundamental issue of identifying disease causing
genes in GWAS loci. The hypothesis of this proposal is that transcriptional regulation through RNA
splicing plays an important role in COPD development and pathogenesis. This will be explored by
leveraging existing data from two well-phenotyped studies of lung disease: COPDGene and the Lung Tissue
Research Consortium. Specific Aims: (1) characterizing gene expression and splicing in smokers and
testing for associations with COPD case-control status and lung function; (2) discovering expression
quantitative trait loci (QTLs), splice QTLs and transcript ratio QTLs and using these data to explain
GWAS findings; and (3) using long-read RNA sequencing to characterize full-length isoforms
associated with disease and definitively identifying splicing patterns. The innovative research plan, which
utilizes novel methodologies to characterize splicing, will identify COPD GWAS loci involved in alternative
splicing. It is accompanied by a training plan, which will provide Dr. Saferali with the skills to complete the
research aims, as well as the experience to transition to independence and submit an R01 expanding upon the
characterization of isoform diversity in COPD using long-read sequencing. In particular Dr. Saferali has four
training goals which build upon her existing background in respiratory genetics. (1) To strengthen her
knowledge of biostatistics and statistical genomics; (2) to expand her integrative ‘omics skill set; (3) to
gain experience and expertise in the generation, analysis and interpretation of long-read sequencing
data; and (4) to deepen her understanding of study design and mentoring. She is supported by a
mentoring team with complementary skillsets and successful mentoring careers, which, together with her
experience and training, will guarantee the success of this proposal. The findings may pave the way for the
development of targeted therapeutics and personalized approaches, while exploring a novel methodology to
address one of the most important analytic challenges in the field today: characterization of isoform diversity
using RNA sequencing.

## Key facts

- **NIH application ID:** 10831445
- **Project number:** 5K01HL157613-04
- **Recipient organization:** BRIGHAM AND WOMEN'S HOSPITAL
- **Principal Investigator:** Aabida Saferali
- **Activity code:** K01 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2024
- **Award amount:** $177,987
- **Award type:** 5
- **Project period:** 2021-04-01 → 2026-04-30

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10831445

## Citation

> US National Institutes of Health, RePORTER application 10831445, Integrative 'Omics of Transcriptome Complexity in COPD (5K01HL157613-04). Retrieved via AI Analytics 2026-05-23 from https://api.ai-analytics.org/grant/nih/10831445. Licensed CC0.

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