Sabrina Ellesoe MD, PhD

Dr. Sabrina Gade Ellesoe, MD, Ph.D. is a Ward Doctor at the Rigshospitalet. In her Ph.D. project, we investigated the diagnoses observed in familial congenital heart disease. She manually curated the patient files of more than 3000 patients and collected blood samples from 500 patients and their healthy relatives. In the validation process, they discovered that app. 1/3 of the diagnoses from the Danish National Patient Register is invalid. In the second part of the project, they performed whole exome sequencing. A next-generation sequencing method in which all of the coding regions of an individual's DNA are read out. They found that it was clusters of genes and not single genes that caused the familial accumulation of heart defects.

In the third part of the project, they included families from collaborators from around the world as well as families already published in peer-reviewed papers. By applying a systems biology approach we analyzed the observed pairs of diagnoses within the families and calculated the odds ratios of more than 100 pairs of diagnoses.