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Roxana Moslehi, B.Sc.(Honours), M.Sc., Ph.D

Research Theme and Training

Dr Moslehi is a genetic epidemiologist with expertise in designing family-based and population-based genetic epidemiologic investigations and in statistical analysis of genetic and epidemiologic data. The overall objectives of most of Dr. Moslehi's studies are to identify genetic factors involved in the etiology of human disorders and to quantify the effects of genetic and environmental factors on disease risk. Various malignant and pre-malignant conditions have been the focus of most of her research activities; however, Dr. Moslehi's research projects have also involved other complex disorders besides cancer. Dr. Moslehi has been studying cancer risks associated with DNA repair gene mutations for a number of years. In the past few years, she has also initiated several studies into the role of DNA repair and transcription genes in human reproduction and fetal development.

Current Research Projects

Role of DNA Repair and Transcription Genes in Human Reproduction and Fetal Development

Adverse Effects of Trichothiodystrophy (TTD) DNA Repair/Transcription Gene Abnormalities on Human Fetal Development

During her post-doctoral fellowship at the National Cancer Institute (NCI), while interviewing families of patients with DNA repair disorders at the Clinical Center of the National Institutes of Health (NIH), Dr. Moslehi made a number of novel clinical observations related to pregnancy complications in mothers of patients with trichothiodystrophy (TTD), a rare DNA repair disorder. Based on these novel clinical observations, in 2003, Dr. Moslehi conceived the hypothesis and the study design for a unique genetic epidemiologic investigation into the role of DNA repair and transcription genes in human fetal development. After analyzing the results of this study, Drs. Caroline Signore and Jame Mills, collaborators at the National Institute of Child Health and Human Development (NICHD) and Dr. Moslehi proposed a novel hypothesis suggesting a role for TTD DNA repair and transcription genes in placental development (Moslehi R et al., Clinical Genetics 2009) (Moslehi R et al., Nature Precedings, 2009) (Tamura et al., Prenatal Diagnosis, 2011).

Roxana, Amiran Dzutsev, Anil Kumar

Anil kumar's Master of Science (Epidemiology and Biostatistics) thesis project was related to the role of DNA repair/transcription genes in human fetal and placental development. Other collaborators on this project are investigators at the NCI, NICHD and National Institute of Allergy and Infectious Diseases (NIAID) (Moslehi R. et al, ASHG 2010) (Dzutsev A. et al, ASHG 2010).

Impact of Mutations in the BRCA Genes on Female Fertility and Sex Ratio Among Offspring

BRCA Genes & Fertility
BRCA Genes & Fertility

The objectives of a number of the studies in Dr. Moslehi´s lab have been to characterize the BRCA1 and BRCA2 cancer susceptibility genes by estimating the penetrance of mutations in these genes, determining the environmental modifiers of the BRCA-associated cancer risks, identifying ethnic-specific and founder mutations in these genes, and investigating the impact of mutations in these genes on various aspects of human biology.

Roxana, Ranjana Singh

Dr. Ranjana Singh worked towards a Master of Public Health (MPH) in Biostatistics degree in Dr. Moslehi´s lab studying the impact of BRCA mutations on female fertility and sex ratio among the offspring.(Moslehi R et al., Am J Hum Biol 2009).

Genetic and Epidemiologic Studies of Cancer and Cancer Precursors

Genetic Epidemiologic Studies of Breast, Ovarian, Prostate, Colorectal and Lung Cancer in New York State (NYS)

In collaboration with colleagues at the New York State Department of Health (NYSDOH), Wadsworth Center, and Albany Medical Center (AMC), Dr. Moslehi has initiated family-based, hospital-based and population-based studies of breast, ovarian, prostate and colorectal cancers with the purpose of identifying mutations and polymorphisms as well as gene-environment interactions involved in the etiology of these conditions.

Michael Ernst, Roxana, Nur Zeinomar

Nur Zeinomar is currently working towards a PhD (Epidemiology) on projects related to breast cancer epidemiology and genetics.

Michael Ernst (BS, Biostatistics) completed a summer internship in biological statistics in Dr. Moslehi´s lab working on a project entitled "Genetic Epidemiologic Studies of Post-Menopausal Breast Cancer".

Deesha Patel, Roxana, Nur Zeinomar

Deesha Patel conducted an independent study as part of the requirement for her MS (Epidemiology and Biostatistics) degree on environmental modifiers of BRCA-associated breast cancer susceptibility.

Other collaborations in this area involved a study, conceived and led by Dr. Simon Spivack at Wadsworth Center and AMC, investigating the inter-relationships of smoking, nutrients and polymorphisms within genes coding for carcinogen-metabolizing enzymes on the risk of lung cancer (Tan X, Moslehi R, et al. Cancer Detection and Prevention, 2009).

Descriptive Epidemiologic Studies of Cancer

Dr. Moslehi has been conducting descriptive epidemiologic studies using local, national and international population-based incidence data to calculate and compare incidence rates and trends of selected malignancies such as ocular non-Hodgkin lymphoma (NHL), melanoma and pancreatic cancer.

Dr. Seema Nayak´s work towards an MPH degree in Epidemiology with Dr. Moslehi included a review of the literature on epidemiology and risk factors of ocular NHL (Moslehi R, Schymura MJ, Nayak S and Coles FB, Expert Reviews of Ophthalmology 2011).

Nur Zeinomar conducted an independent study with Dr. Moslehi as part of her PhD (Epidemiology) degree requirements on descriptive patterns of melanoma incidence.

Statistical Genetics and Bioinformatics Studies

Population Structure of Mitochondrial DNA Variations

Mitochondrial DNA (mtDNA) variations have been associated with several metabolic, neurological, and muscular disorders in genetic epidemiologic investigations. Population structure of mtDNA has been a confounding phenomenon in genetic association studies and has been subject of intense debate. One project in Dr. Moslehi´s lab involves examining linkage disequilibrium (LD) patterns of variations in mtDNA to gain insight into its population structure.

Kristen Zielinski is working towards an MS in Epidemiology degree on this project. Kristen along with Allison Hazlett, another MS Epidemiology student who worked on part of this project as a field placement under Dr. Moslehi´s mentorship, both won awards for their involvements in this project and presented their findings at the annual meeting of International Genetic Epidemiology Society (IGES) / Genetic Analysis Workshop (GAW) in 2009. This work was highlighted in the SPH Friday Letters

Characterization of N-acetyltransferase-2 (NAT2) Gene Polymorphisms

In collaboration with investigators at the Cancer Research Center (CRC) of the University at Albany and the National Cancer Institute (NCI), we conducted statistical genetic studies of the NAT2 gene which led to the development of a web-server for inferring the human NAT2 enzymatic phenotypes from NAT2 genotypes (Moslehi R et al. Phramacogenomics 2006) (Chatterjee N et al. Am J Hum Genet 2006) (Kuznetsov, I et al. Bioinformatics, 2009). The Web-server is available at