W Branduff McAllister

Research Fellow, Mass General Brigham

2 active projects

Investigating effects of HTT on phenotype (v6 AoU)

The HTT gene (or Huntingtin) is an important gene in our body for development. However, when it is mutated HTT can cause Huntington's disease, a fatal neurodegenerative disease. We are interested in exploring how genetic variation in the HTT gene…

Scientific Questions Being Studied

The HTT gene (or Huntingtin) is an important gene in our body for development. However, when it is mutated HTT can cause Huntington's disease, a fatal neurodegenerative disease. We are interested in exploring how genetic variation in the HTT gene region is associated with different traits, even when not associated with Huntington's disease. Understanding these genetic-trait relationships will improve our understanding of the HTT gene in the broader population, and may give important mechanistic insight into what goes wrong in Huntington's disease.

Project Purpose(s)

  • Ancestry

Scientific Approaches

We will use datasets that contain people with known genetic variants in and around the HTT gene region. These genetic variants do not directly cause disease, however some may be associated with traits of interest to the population (e.g. diabetes). After selecting this population of individuals, we will, in the first instance, examine what relevant traits there are that appear to be associated with HTT genetic variation, and catalogue these. After identifying relevant traits to study, we will then perform a genetic association study using standard bioinformatic tools such as plink.

Anticipated Findings

We hope to find traits that are influenced by genetic variation in the HTT gene. This will increase our understanding of the HTT gene which is critical for normal development of the brain. In addition to this, we hope that improving our understanding of the HTT gene's function and mechanisms will improve our understanding of the pathology of Huntington's disease, a currently un-treatable and fatal neurodegeneration.

Demographic Categories of Interest

This study will not center on underrepresented populations.

Data Set Used

Controlled Tier

Research Team

Owner:

Investigating effects of HTT on phenotype

The HTT gene (or Huntingtin) is an important gene in our body for development. However, when it is mutated HTT can cause Huntington's disease, a fatal neurodegenerative disease. We are interested in exploring how genetic variation in the HTT gene…

Scientific Questions Being Studied

The HTT gene (or Huntingtin) is an important gene in our body for development. However, when it is mutated HTT can cause Huntington's disease, a fatal neurodegenerative disease. We are interested in exploring how genetic variation in the HTT gene region is associated with different traits, even when not associated with Huntington's disease. Understanding these genetic-trait relationships will improve our understanding of the HTT gene in the broader population, and may give important mechanistic insight into what goes wrong in Huntington's disease.

Project Purpose(s)

  • Ancestry

Scientific Approaches

We will use datasets that contain people with known genetic variants in and around the HTT gene region. These genetic variants do not directly cause disease, however some may be associated with traits of interest to the population (e.g. diabetes). After selecting this population of individuals, we will, in the first instance, examine what relevant traits there are that appear to be associated with HTT genetic variation, and catalogue these. After identifying relevant traits to study, we will then perform a genetic association study using standard bioinformatic tools such as plink.

Anticipated Findings

We hope to find traits that are influenced by genetic variation in the HTT gene. This will increase our understanding of the HTT gene which is critical for normal development of the brain. In addition to this, we hope that improving our understanding of the HTT gene's function and mechanisms will improve our understanding of the pathology of Huntington's disease, a currently un-treatable and fatal neurodegeneration.

Demographic Categories of Interest

This study will not center on underrepresented populations.

Data Set Used

Controlled Tier

Research Team

Owner:

Collaborators:

  • Kevin Correia - Project Personnel, Mass General Brigham
1 - 2 of 2
<
>
Request a Review of this Research Project

You can request that the All of Us Resource Access Board (RAB) review a research purpose description if you have concerns that this research project may stigmatize All of Us participants or violate the Data User Code of Conduct in some other way. To request a review, you must fill in a form, which you can access by selecting ‘request a review’ below.