The ASHG membership team recently sat down with Ileana Delia Sabau, MD an MD Specialist in Medical Genetics at Synevo Romania. As a part of the ESHG-Y, the European Society of Human Genetics’ Young Geneticists Committee, Dr. Sabau is passionate about engaging the next generation and shares her work in the field as well as... Read More
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: Kylee Spencer, PhD, Assistant Editor, AJHG KS: What motivated you to start working on this project? SG: My lab has been studying the mechanisms underlying the variable expressivity of rare variants in complex disorders like autism and intellectual disability. We observed that affected children inheriting a variably expressive rare variant (such as 16p12.1... 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: Kylee Spencer, PhD, Assistant Editor, AJHG KS: What motivated you to start working on this project? MS and GG: There’s been much discussion about the underrepresentation of historically marginalized gender, racial and ethnic groups in precision medicine research and the ramification of this underrepresentation for health equity. We are a diverse team, all... Read More
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