Harvard Catalyst Profiles

Cornelia de Lange syndrome is a genetic condition featuring birth defects, diminished growth, intellectual disability, autism, and other features. Several genes for this condition are known, but the molecular steps between gene and phenotype remain obscure, and there is no targeted therapy. The medical student's scholarly project would seek to generate knowledge in these areas and could involve wet lab, computational, or clinical research.

Cornelia de Lange syndrome (CdLS) is a multisystem genetic disorder affecting children and adults, with no targeted therapy. The phenotype is variable and a natural history of the condition, taking the specific genotype into account, has not been performed. This limits our ability to counsel patients regarding anticipated natural history and to manage their care, in addition to leaving gaps in our knowledge about the relative importance of each CdLS gene in basic genome biology. Furthermore, it's not even obvious what an appropriate set of metrics would be in a future clinical trial. This project would be simply to take existing published and internal natural history data, to code it on the Human Phenotype Ontology and Phenopackets schemas (will require light-medium coding), perform genotype-phenotype and phenotype-phenotype correlations, and make the data publicly available.