Nicholas Singh-Miller

Research Fellow, National Institutes of Health (NIH)

2 active projects

Narcolepsy

We plan to perform a phenotype driven investigation of narcolepsy. We would like to use the genomes available in a GWAS approach.

Scientific Questions Being Studied

We plan to perform a phenotype driven investigation of narcolepsy. We would like to use the genomes available in a GWAS approach.

Project Purpose(s)

  • Disease Focused Research (narcolepsy)
  • Ancestry

Scientific Approaches

If the GWAS were to highlight any specific variants, we would likely check if any of the variants are present in our own cohort.

Anticipated Findings

HLA class haplotypes have been found in previous GWAS studies, to be both associated with and protective against narcolepsy. A GWAS on this highly annotated and phenotype enriched dataset may provide further insight into potential genetic causes or predispositions.

Demographic Categories of Interest

This study will not center on underrepresented populations.

Data Set Used

Controlled Tier

Research Team

Owner:

Sharpemia

The intention at this point is to explore gene variant information in genes such as SHARPIN1 and the potential phenotypes.

Scientific Questions Being Studied

The intention at this point is to explore gene variant information in genes such as SHARPIN1 and the potential phenotypes.

Project Purpose(s)

  • Disease Focused Research (immune system dysregulation)
  • Ancestry

Scientific Approaches

The initial aim is to correlate potential phenotype matches and genetic results in this data set with potential candidates in our clinical data set.

Anticipated Findings

With the knowledge of the scientific landscape of immune dysregulation continuously increasing, a project such of this could help clarify some of the pathways therein.

Demographic Categories of Interest

This study will not center on underrepresented populations.

Data Set Used

Controlled Tier

Research Team

Owner:

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