NAGEN program: Implementing genomic medicine in the clinic

Hosted by Barbara Rivera – Hereditary Cancer Group

Dr. Apellaniz-Ruiz earned a bachelor’s degree in Biochemistry from UNAV (Pamplona, Spain) and a master’s in Biomedicine from Universidad Autónoma de Madrid (Madrid). In 2012, she joined the Hereditary Endocrine Cancer group at the Spanish National Cancer Research Center – CNIO (Madrid) to accomplish her PhD. As a La Caixa PhD fellow, she worked to identify genetic variants influencing treatment response and toxicity in cancer patients. Afterwards, seeking to broaden her knowledge in human genetics, she did a postdoc at McGill University (Montreal, Canada). At Dr. Foulkes lab, she studied inherited cancer syndromes and characterized the mechanisms involved in their pathogenesis. In 2020, she moved back to Spain to join the Genomics Medicine Unit at Navarrabiomed (Pamplona). Here, she is analyzing genomic data to discover genetic alterations underlying rare diseases and familial hypercholesterolemia, as well as genetic markers associated with lipid-lowering therapy response, with a La Caixa Postdoctoral Junior Leader fellowship. Her research has resulted in 39 publications in international journals such as Clinical Cancer Research or New England Journal of Medicine, 11 of them being as first-author. She is a member of the EAS, ESHG, AEGH and SEFF, and participant of the Young Fellows EAS programme and SEFF Methodological and Analytical Interpretation working group. Her goal is to understand the genetic differences that underlie disease susceptibility and drug response, in order to benefit the patients and promote personalized medicine.