Nazlee Zebardast

Early Career Tenure-track Researcher, Mass General Brigham

3 active projects

Glaucoma polygenic risk

Glaucoma, a progressive optic neuropathy, is the leading cause of irreversible vision loss worldwide. It is associated with a poor quality of life, decreased mobility, increased falls, and increased economic burden. Primary open angle glaucoma (POAG) is a complex disease…

Scientific Questions Being Studied

Glaucoma, a progressive optic neuropathy, is the leading cause of irreversible vision loss worldwide. It is associated with a poor quality of life, decreased mobility, increased falls, and increased economic burden. Primary open angle glaucoma (POAG) is a complex disease with a heterogeneous presentation and disease course. POAG is also one of the most heritable of all complex human diseases, with over 127 risk loci identified in multiethnic populations. Genome-wide polygenic risk scores (PRSs) have been used to effectively identify individuals at high risk for POAG. To date, little is known about clinical features of individuals with high and low genetic burden for POAG. We hypothesize that POAG genetic risk may modulate and be modulated by clinical features of individuals and their environment; identifying these characteristics would improve our understanding of how genetic variants may impact POAG pathogenesis.

Project Purpose(s)

  • Disease Focused Research (glaucoma)
  • Ancestry

Scientific Approaches

We will construct a POAG polygenic risk score (PRS) using genome-wide association study summary statistics from the prior large cross-ancestry meta-analysis. We will identify glaucoma cases based on glaucoma codes. Stratifying by PRS deciles, models will be constructed to assess associations with a range of demographic (age, gender, ethnicity), metabolic and systemic (body mass index, forced vital capacity, peak expiratory flow, heart rate, blood pressure, diabetes, autoimmune disease), environmental and nutritional (caffeine, alcohol, nicotine and cannabis use), ocular features (lasers and surgery) and medication use. False discovery rate thresholds will be used to adjust P-values for multiple comparisons

Anticipated Findings

Differences found through this analysis may provide insights into disease specific pathogenesis and generate new hypotheses for further research.

Demographic Categories of Interest

  • Race / Ethnicity
  • Age

Data Set Used

Controlled Tier

Research Team

Owner:

COVID-19 and Visual Impairment

How does the experience of the COVID-19 pandemic for individuals with visual impairment compare to individuals without visual impairment? Visual disorders are debilitating diseases that account for a majority of irreversible blindness in the United States. Visual impairment can be…

Scientific Questions Being Studied

How does the experience of the COVID-19 pandemic for individuals with visual impairment compare to individuals without visual impairment?
Visual disorders are debilitating diseases that account for a majority of irreversible blindness in the United States. Visual impairment can be a source of disability amongst affected individuals. The COVID-19 pandemic has brought several challenges to individuals with visual impairment, including difficulty accessing care and increased concerns about social interaction. As an example, rapid at-home testing is inaccessible to visually impaired individuals without a caretaker as they are unable to interpret the results. If individuals with visual impairment are suffering disproportionately throughout the pandemic, new tools and policies to increase access to care and mental health services may help mitigate this disparity. Better understanding the COVID-19 experience of people with visual impairment will allow us to address this issue.

Project Purpose(s)

  • Disease Focused Research (Visual Impairment and COVID-19 experience)

Scientific Approaches

Our study cohort will be individuals who have previously had an eye examination. Of these individuals, we will identify individuals who have a visual disorder by their ICD-9/ICD-10 codes or SNOMED diagnoses. We will then utilize the COVID-19 Participant Exposure survey to identify different “spheres” of the COVID-19 pandemic experience, including access to COVID-19 testing, social distancing experiences, and wellbeing. Univariate and multivariate regression models (controlling for age, sex, race, and other covariates) will be used to predict the relationship between the relationship between the visual impairment and the COVID-19 experience. Sub-analyses may be performed in certain demographics to see how the risk for a visual disorder may modulate in certain populations.

Anticipated Findings

Previous studies on this subject have been limited by their sample size (<300 individuals) and their limited sample population (>95% White, or not reporting race). The All of Us database is the largest and most racially diverse US database, where more than 50% of participants are from racial and ethnic minorities. Large-scale ophthalmology research often has a majority White study population; the opportunity to study the association between visual impairment and COVID-19 experience in individuals from historically underrepresented backgrounds will help us ascertain how this relationship might shift in certain populations. The large sample size may allow us to discover associations in populations where previous analyses were underpowered.

Demographic Categories of Interest

  • Disability Status

Data Set Used

Registered Tier

Research Team

Owner:

Collaborators:

  • Rishabh Singh - Graduate Trainee, Mass General Brigham

COVID-19 and Visual Impairment

How does the experience of the COVID-19 pandemic for individuals with visual impairment compare to individuals without visual impairment? Visual disorders are debilitating diseases that account for a majority of irreversible blindness in the United States. Visual impairment can be…

Scientific Questions Being Studied

How does the experience of the COVID-19 pandemic for individuals with visual impairment compare to individuals without visual impairment?
Visual disorders are debilitating diseases that account for a majority of irreversible blindness in the United States. Visual impairment can be a source of disability amongst affected individuals. The COVID-19 pandemic has brought several challenges to individuals with visual impairment, including difficulty accessing care and increased concerns about social interaction. As an example, rapid at-home testing is inaccessible to visually impaired individuals without a caretaker as they are unable to interpret the results. If individuals with visual impairment are suffering disproportionately throughout the pandemic, new tools and policies to increase access to care and mental health services may help mitigate this disparity. Better understanding the COVID-19 experience of people with visual impairment will allow us to address this issue.

Project Purpose(s)

  • Disease Focused Research (Visual Impairment)

Scientific Approaches

Our study cohort will be individuals who have previously had an eye examination. Of these individuals, we will identify individuals who have a visual disorder by their ICD-9/ICD-10 codes or SNOMED diagnoses. We will then utilize the COVID-19 Participant Exposure survey to identify different “spheres” of the COVID-19 pandemic experience, including access to COVID-19 testing, social distancing experiences, and wellbeing. Univariate and multivariate regression models (controlling for age, sex, race, and other covariates) will be used to predict the relationship between the relationship between the visual impairment and the COVID-19 experience. Sub-analyses may be performed in certain demographics to see how the risk for a visual disorder may modulate in certain populations.

Anticipated Findings

Previous studies on this subject have been limited by their sample size (<300 individuals) and their limited sample population (>95% White, or not reporting race). The All of Us database is the largest and most racially diverse US database, where more than 50% of participants are from racial and ethnic minorities. Large-scale ophthalmology research often has a majority White study population; the opportunity to study the association between visual impairment and COVID-19 experience in individuals from historically underrepresented backgrounds will help us ascertain how this relationship might shift in certain populations. The large sample size may allow us to discover associations in populations where previous analyses were underpowered.

Demographic Categories of Interest

  • Disability Status

Data Set Used

Registered Tier

Research Team

Owner:

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