Claire Simpson Email & Phone Number

Memphis, Tn, Us

Memphis, Tennessee, United States

Memphis, Tn

Baltimore, Maryland Area

As a Staff Scientist at NHGRI, having completed 5 years of postdoctoral training under the mentorship of Dr Joan Bailey-Wilson, working on linkage, association and next-generation sequencing studies in a range of complex common traits which currently include myopia, prostate cancer, lung cancer and autism.

I worked on linkage, association and next-generation sequencing studies in a range of complex common traits which included myopia, prostate cancer, lung cancer, inflammatory bowel disease and autism.

I worked on two genetic association studies as part of a wider program of research into complex genetics of refractive error in the 1958 British Birth Cohort. Refractive error is a common, complex trait which is frequently divided into myopia (near- or shortsightedness) and hyperopia (far- or longsightedness). Myopia is a very common visual impairment, affecting approximately 25% of most European derived populations and up to 80% of some south-east Asian populations. It has been identified by the World Health Organisation as a major target in the fight against preventable blindness. High degrees of myopia are also risk factors for the development of blinding disorders such as glaucoma and retinal detachment. My first project was a candidate gene association study in which we have examined tagSNPs in 111 candidate genes informed through a recently published linkage study. I reported the exclusion of two important candidates, PAX6 and SOX2 and one identified novel candidate genes, with expression studies in cell lines and human tissues. I also identified the SERPINI2 gene as associated with refractive error in this cohort, published in Human Molecular Genetics in 2009. I was a major contributor to a grant application to the Wellcome Trust to perform a genome-wide association study of refractive error in this cohort and we were awarded 1 million pounds sterling (~$1.5 million) to pay for genotyping and analysis. These data were used as part of the international Consortium for Refractive Error and Myopia (CREAM) meta-analysis study.

Phd, Genetics

My doctoral research aimed to identify susceptibility and phenotype modifier genes for sporadic amyotrophic lateral sclerosis (ALS). ALS.

Bsc, Biomedical Sciences, Iii (Upper Second Class Honors)

BSc Biomedical Sciences Part Time