Meet the Gene Team

The Gene Team is an essential part of Ambry Genetics. This passionate team of experts is inspired by advancing the science of gene characterization and being able to help patients. For our second installment, we would like to introduce Jeni Herrera-Mullar, MGC, CGC, DMA, Principal Clinical Scientist at Ambry Genetics. 

Jeni is a member of the Gene Team and is involved in the assessment of gene-disease relationships for both newly-described candidate genes and well-established genes with a focus on hereditary cancer. Prior to this role, Jeni worked as a reporting genetic counselor and a Genomic Science Liaison at Ambry Genetics, in addition to practicing clinically as a prenatal and oncology genetic counselor. Jeni is highly interested in the field of gene-disease validity, and specifically its adaptation to common disease such as cancer. She is passionate about research and education in this arena, and is actively involved in research to better characterize the tumor spectrum in novel and established hereditary cancer genes. Jeni is also an active collaborator in continuing to refine the gene-disease associations scoring criteria to better capture the complexities in hereditary cancer such as pleiotropy, phenocopy, and reduced penetrance. She is a member of ClinGen working groups, including the Hereditary Breast, Ovarian, and Pancreatic Cancer VCEP and the Hereditary Cancer GCEP. 

Watch this video to learn more about Jeni and what inspires her, an explanation of gene-disease validity and its importance for patients and clinicians and an analysis of how the science of gene curation has changed over time. 

The Gene of the Month is MSH3. Mutations in this gene were initially thought to possibly play a role in Lynch syndrome, but studies have shown that is not the case. Interestingly, researchers recently made a discovery about the effects of biallelic mutations in this gene. Watch the video below as Jeni Herrera-Mullar explains the significance for patients.