It took almost 15 years for scientists to sequence and publish a complete accounting of the human genetic code — the 3 billion base pairs along the double strands of DNA that serve as a blueprint for the body’s functions and pass traits from parents to offspring.

Now, approximately 15 years after the human genome was first sequenced, current discoveries represent just the beginning when it comes to the genetic origins of disease and the ever-expanding number of individual human genome sequences available to study. Researchers currently utilize what are called genome-wide association studies (GWAS) to discover hundreds of associations between genetic variations and specific diseases and disorders shared among individuals. But to date, very few researchers have fully explored how correlations between genes and disease may be different in women and men.

Few researchers have explored how genes, diseases, and biological sex interact.

Dr. Hongyu Zhao, an internationally known expert in the field of statistical genetics, has collected preliminary data to suggest that genetic pathways may relate to some diseases differently in women and men.

“Many human traits and diseases have sex or gender differences, and many diseases have a significant genetic component,” said Zhao, Department Chair and Ira V. Hiscock Professor of Biostatistics at Yale School of Medicine. “However, most analyses of genetic data assume the same effect for both women and men or use a methodology that is not calibrated to detect potential sex differences.”

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