Pathogenic Variants. Variants in the DNA that are expected to lead to a known genetic condition.
« Back to Glossary IndexNews
Related News

Oct 1st, 2024
Since 1991, the FA Family Retreat has been a tradition that surprises, supports, and uplifts FA families worldwide. Whether families travel from within the United States or across the globe, the retreat offers connection, educational sessions, resources, expert consultations, and...

Nov 7th, 2024
Institution: Laboratorio de Citogenetica, Instituto Nacional de Pediatría, Mexico City, México Area of expertise: Medical genetics, dysmorphology. My work: I am a medical geneticist from Mexico City, introduced to the field of Fanconi anemia (FA) by my mentor, Dr. Sara Frias, whom...

Jul 15th, 2024
The Fanconi Cancer Foundation (FCF) is excited to announce that Dr. Isis Sroka has been named CEO effective August 1, 2024. She succeeds Mark Quinlan who served as Executive Director since 2017 and recently announced his departure. Quinlan will continue in an advisory role with FCF through a transition period.