Dr. Diskin's research is focused on translational genomics in childhood cancers. Her laboratory seeks to identify the genetic basis of childhood cancers by combining quantitative computational methods with rigorous "wet-lab" experimental approaches. In parallel, she has developed, and is applying, a proteogenomic approach to identify novel immunotherapeutic targets for high-risk and relapsed pediatric malignancies.
Dr. Hakonarson, director of the Center for Applied Genomics at Children's Hospital, led the study, which is the first to look at copy variation numbers in children that may be linked with human lifespan. Several gene variants can influence a person's potential lifespan by either raising the probability of developing a disease or by providing protection from disease, according to new
Genetics researchers at The Children's Hospital of Philadelphia have found 25 "high impact" gene variants that occur in some patients with autism. Although rare individually, each genetic variant has a strong effect in raising a person's autism risk. These findings could be incorporated
Translational genomics in childhood cancers is the central focus of the Diskin Lab, which works to identify the inherited and acquired genetic drivers of cancer by combining quantitative computational methods with rigorous experimental approaches in the lab. In parallel, the team has developed and applied a proteogenomic approach to identify novel immunotherapeutic targets for high-risk and relapsed pediatric malignancies.