Uma Arora

Research Fellow, Broad Institute

8 active projects

myeloid-disease-ctv6

Exploration of genetic determinants and predisposition to myeloid disease. What genetic landscape exists for these collection of diseases? Does this landscape differ in currently under-represented groups in genetics? How do blood traits apply in this context?

Scientific Questions Being Studied

Exploration of genetic determinants and predisposition to myeloid disease. What genetic landscape exists for these collection of diseases? Does this landscape differ in currently under-represented groups in genetics? How do blood traits apply in this context?

Project Purpose(s)

  • Disease Focused Research (myeloid disease and blood traits)
  • Ancestry

Scientific Approaches

Phenotype, Array, Exome, Genome sequences Methods: association testing, finemapping, and other related tools/methods

Anticipated Findings

We expect this work to contribute to the understanding of HSC (human hematopoietic stem cell) biology and how it is altered in these disease states.

Demographic Categories of Interest

  • Race / Ethnicity

Data Set Used

Controlled Tier

Research Team

Owner:

myeloid-disease-ct

Exploration of genetic determinants and predisposition to myeloid disease. What genetic landscape exists for these collection of diseases? Does this landscape differ in currently under-represented groups in genetics? How do blood traits apply in this context?

Scientific Questions Being Studied

Exploration of genetic determinants and predisposition to myeloid disease. What genetic landscape exists for these collection of diseases? Does this landscape differ in currently under-represented groups in genetics? How do blood traits apply in this context?

Project Purpose(s)

  • Disease Focused Research (myeloid disease and blood traits)
  • Ancestry

Scientific Approaches

Phenotype, Array, Exome, Genome sequences Methods: association testing, finemapping, and other related tools/methods

Anticipated Findings

We expect this work to contribute to the understanding of HSC (human hematopoietic stem cell) biology and how it is altered in these disease states.

Demographic Categories of Interest

  • Race / Ethnicity

Data Set Used

Controlled Tier

Research Team

Owner:

Collaborators:

  • Jun Qian - Other, All of Us Program Operational Use

myeloid-disease-burden

Exploration of genetic determinants and predisposition to myeloid disease. What genetic landscape exists for these collection of diseases? Does this landscape differ in currently under-represented groups in genetics? How do blood traits apply in this context?

Scientific Questions Being Studied

Exploration of genetic determinants and predisposition to myeloid disease. What genetic landscape exists for these collection of diseases? Does this landscape differ in currently under-represented groups in genetics? How do blood traits apply in this context?

Project Purpose(s)

  • Disease Focused Research (myeloid disease and blood traits)
  • Ancestry

Scientific Approaches

Phenotype, Array, Exome, Genome sequences Methods: association testing, finemapping, and other related tools/methods

Anticipated Findings

We expect this work to contribute to the understanding of HSC (human hematopoietic stem cell) biology and how it is altered in these disease states.

Demographic Categories of Interest

  • Race / Ethnicity

Data Set Used

Controlled Tier

Research Team

Owner:

Duplicate of Hereditary blood disorders

The genetic etiology of many hereditary blood disorders is not comprehensively known. Furthermore, when the genes are known, there is often variable expressivity in terms of phenotypic manifestation of the disease. We want to explore the interaction between rare disease-causing…

Scientific Questions Being Studied

The genetic etiology of many hereditary blood disorders is not comprehensively known. Furthermore, when the genes are known, there is often variable expressivity in terms of phenotypic manifestation of the disease. We want to explore the interaction between rare disease-causing genetic variants and common genetic variants governing related traits and how they impact phenotypic manifestation of the disease. This is important to gain a comprehensive understanding of the effects of genetic background on disease incidence and susceptibility. This information is valuable when making decisions about using genetic testing to diagnose diseases or for genetically informed personalized therapies.

Project Purpose(s)

  • Ancestry

Scientific Approaches

We are going to use GWAS summary statistics from blood cell traits to calculate a polygenic score for individuals for each blood cell trait. We are also going to perform RVAS analyses for blood diseases. We will then perform additional statistical tests and analyses to explore the relationship between rare variants and common variants involved in disease and blood cell traits.

Anticipated Findings

We anticipate understanding the interaction between rare disease-causing variants and common genetic variants for hereditary blood disorders.

Demographic Categories of Interest

This study will not center on underrepresented populations.

Data Set Used

Controlled Tier

Research Team

Owner:

Duplicate of Genetic resilience to hematological malignancies

Somatic mosaicism is a widespread phenomenon that occurs increasingly with age in all human tissues. Clonal hematopoiesis (CH) is a prevalent form of somatic mosaicism in human blood. While blood cancer is highly heritable, and CH is widespread and a…

Scientific Questions Being Studied

Somatic mosaicism is a widespread phenomenon that occurs increasingly with age in all human tissues. Clonal hematopoiesis (CH) is a prevalent form of somatic mosaicism in human blood. While blood cancer is highly heritable, and CH is widespread and a risk factor for developing blood cancers, the varying susceptibility of individuals with CH to develop blood cancer suggests the existence of genetic resilience variants that modulate the impact of acquired somatic mosaicism to prevent progression to cancer. Uncovering resilience loci will fill a critical knowledge gap on the molecular mechanisms involved in preventing transformation to malignancy, even in the setting of premalignant clonal expansions - a critical open question in the field of cancer biology. Long term, this work may help empower therapeutic strategies for preventing transformation into blood cancer.

Project Purpose(s)

  • Disease Focused Research (Hematological malignancies)
  • Ancestry

Scientific Approaches

Taking advantage of data from human population cohorts where blood cancers have been measured (primarily All of Us and UK Biobank cohorts), I will conduct well-powered genetic studies to elucidate the effects of germline and somatic resilience variants that can protect from the progression of clonal hematopoiesis (CH) into blood cancers. To uncover germline resilience variants, I will perform genetic association studies and statistical modeling focused on individuals with CH. Somatic resilience variants can be identified through the comparison of individuals with CH who remain healthy or progress to acquire a blood cancer. Upon identifying germline and somatic resilience variants, I will apply single-cell integrative functional genomics, genome editing, and cellular barcoding approaches to define the molecular mechanisms underlying resilience in the setting of hematopoietic clonal mosaicism.

Anticipated Findings

This work will address an important open question regarding the differences in the propensity for somatic mosaicism to evolve into cancer. Long term, this work may help empower therapeutic strategies for preventing transformation into blood cancer.

Demographic Categories of Interest

This study will not center on underrepresented populations.

Data Set Used

Controlled Tier

Research Team

Owner:

myeloid-disease-ctv7

Exploration of genetic determinants and predisposition to myeloid disease. What genetic landscape exists for these collection of diseases? Does this landscape differ in currently under-represented groups in genetics? How do blood traits apply in this context?

Scientific Questions Being Studied

Exploration of genetic determinants and predisposition to myeloid disease. What genetic landscape exists for these collection of diseases? Does this landscape differ in currently under-represented groups in genetics? How do blood traits apply in this context?

Project Purpose(s)

  • Disease Focused Research (myeloid disease and blood traits)
  • Ancestry

Scientific Approaches

Phenotype, Array, Exome, Genome sequences Methods: association testing, finemapping, and other related tools/methods

Anticipated Findings

We expect this work to contribute to the understanding of HSC (human hematopoietic stem cell) biology and how it is altered in these disease states.

Demographic Categories of Interest

  • Race / Ethnicity

Data Set Used

Controlled Tier

Research Team

Owner:

  • Uma Arora - Research Fellow, Broad Institute

Duplicate of myeloid-disease-ct

Exploration of genetic determinants and predisposition to myeloid disease. What genetic landscape exists for these collection of diseases? Does this landscape differ in currently under-represented groups in genetics? How do blood traits apply in this context?

Scientific Questions Being Studied

Exploration of genetic determinants and predisposition to myeloid disease. What genetic landscape exists for these collection of diseases? Does this landscape differ in currently under-represented groups in genetics? How do blood traits apply in this context?

Project Purpose(s)

  • Disease Focused Research (myeloid disease and blood traits)
  • Ancestry

Scientific Approaches

Phenotype, Array, Exome, Genome sequences Methods: association testing, finemapping, and other related tools/methods

Anticipated Findings

We expect this work to contribute to the understanding of HSC (human hematopoietic stem cell) biology and how it is altered in these disease states.

Demographic Categories of Interest

  • Race / Ethnicity

Data Set Used

Controlled Tier

Research Team

Owner:

  • Uma Arora - Research Fellow, Broad Institute

Duplicate of myeloid-disease-burden

Exploration of genetic determinants and predisposition to myeloid disease. What genetic landscape exists for these collection of diseases? Does this landscape differ in currently under-represented groups in genetics? How do blood traits apply in this context?

Scientific Questions Being Studied

Exploration of genetic determinants and predisposition to myeloid disease. What genetic landscape exists for these collection of diseases? Does this landscape differ in currently under-represented groups in genetics? How do blood traits apply in this context?

Project Purpose(s)

  • Disease Focused Research (myeloid disease and blood traits)
  • Ancestry

Scientific Approaches

Phenotype, Array, Exome, Genome sequences Methods: association testing, finemapping, and other related tools/methods

Anticipated Findings

We expect this work to contribute to the understanding of HSC (human hematopoietic stem cell) biology and how it is altered in these disease states.

Demographic Categories of Interest

  • Race / Ethnicity

Data Set Used

Controlled Tier

Research Team

Owner:

  • Uma Arora - Research Fellow, Broad Institute
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