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Hire Dr. Swapna D.

United States

Profile Summary

I am focused on discovering the novel genetic factors that cause female infertility. Infertility and overall health are interconnected and thus deciphering genetic factors that strongly influence the gonadal development and function is very essential. IVF is the most promising treatment measure available for infertility, worldwide. However, the factors that influence the dose of exogenous FSH required for ovarian stimulation during IVF are still not well established. The level of FSH receptor (FSHR) expression on the granulosa cells is an essential determinant of the dose of FSH required to obtained good ovarian response. I discovered that the polymorphism (G-29A) in the promoter region of the gene FSHR, influence its expression at both mRNA and protein level, and low expression due to AA-29 genotype significantly associate with the poor ovarian response. The G-29A polymorphism in FSHR thus holds potential as a biomarker to determine ovarian response prior to FSH stimulation. Our group has identified the rare novel mutations in FSHR gene Val514Ala; in women with ovarian hyperstimulation syndrome (OHSS) and Ala575Val; in women with primary ovarian insufficiency (POI). Using in vitro analysis, I performed functional characterization of these two novel mutations. Both these novel mutations either affect cell surface trafficking of the receptor or its signaling activity resulting in altered function. In conclusion, this study provides experimental evidence towards understanding genotype-phenotype correlation with reference to the FSHR gene mutations and polymorphisms described. Apart from the studies related to infertility, I was also involved in establishing the significance of serum prostate secretory protein of 94 amino acids (PSP94)/serum prostate specific antigen (PSA) ratio as a biomarker to differentiate between benign prostatic hyperplasia (BPH) and prostate cancer (PCa). We also observed that the rs10993994 polymorphism in microseminoprotein (MSMB) gene is associated with its expression level and could hold potential as a marker of PCa aggressiveness. I am currently working on the functional characterization of the variants identified in genes associated with DNA damage repair (DDR) pathway. Recently, genome-wide association studies have established a strong association between the genes involved in DDR and early age of menopause. Our group has identified pathogenic variants in DDR genes such as minichromosome maintenance gene 8 and 9 (MCM8 and MCM9) among women with POI using whole exome sequencing approach. To further perform functional analysis of these novel variants in both in-vitro and in vivo systems, genome editing using cutting-edge CRISPR/Cas9 technology will be carried out; and the functional significance of these variants on infertility and genomic instability will be deciphered.

Subject Matter Expertise

• ☆ Molecular Biology
• ☆ Biomarkers
• ☆ Genetics
• ☆ Mutagenesis
• ☆ Exome Sequencing
• ☆ Gene Editing/CRISPR
• ☆ Cell Aging
• ☆ Endocrinology
• ☆ Reproductive Medicine

Services

• Writing
• Consulting
• Data & AI
• Product Development

Work Experience

Post-doctoral Associate

University of Pittsburgh

September 2015 - Present

Post-doctoral Associate

University of Pittsburgh

September 2015 - Present

Education

Post-doctoral Associate (ObG/GYN/REP)

University of Pittsburgh

September 2015 - Present

PhD. fellow (Biotechnology)

National Institute for Research in Reproductive Health

January 2008 - May 2014

Certifications

• Certification details not provided.