Inside HGGA

Posted By: HGG Advances HGGA: What motivated you to start working on this project? CS: In order to move from genome-wide associated loci toward potentially effective clinical and therapeutic targets, we need to identify which target/effector gene(s) the associate variants are being modulated. There are multiple methods that currently exist that can be used to... Read More

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

Posted By: HGG Advances HGGA: What motivated you to start working on this project?  ML: I was serendipitously connected with my mentor who has been working in this space for many years. When I started my postdoc, which was a step change from the work I had done in my PhD, it was the first... Read More

Posted By: HGG Advances HGGA: What motivated you to start working on this project?  OB: Most genetic association studies are currently focusing on European populations, which creates disparities with other under-represented populations, especially when translating these studies into the clinic. Polygenic predictions are based on these studies and represent an important component of precision medicine.... Read More