Posted By: HGG Advances HGGA: what motivated you to start working on this project? TN: I have been involved in several BRCA1-related projects and what has always driven me is the clinical consequences of identifying carriers of BRCA1 germline pathogenic variants. These individuals are at substantially higher risk of developing breast and ovarian cancer than... Read More
Posted By: HGG Advances HGGA: What motivated you to start working on this project? NG: Although monogenic genetic disorders are individually rare, collectively they affect up to 1 in 20 people in the global population. Over 700 monogenic disorders—including many inherited metabolic disorders, which I study and treat clinically—now have targeted treatments. As more therapies... Read More
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The month of April is a time of celebration in the human genetics and genomics community. Researchers work year-round to drive discovery and new applications across all facets of research, medicine, and society. On DNA Day (April 25), educators and the public at large dedicate the day to these discoveries and their impact on all... Read More
Posted By: Kylee Spencer, PhD, Assistant Editor, AJHG KS: What motivated you to start working on this project? LS: Since the Wise et al., AJHG 2013 eXclusion report ten years ago that documented that the X chromosome was typically excluded from GWAS, my lab has been thinking about developing statistical methods for the X chromosome,... Read More