Multi-omics approaches to the investigation of human traits associated with rare pediatric diseases by the Children's Rare Disease Cohorts initiative (CRDC)
Approved Research ID: 83216
Approval date: August 9th 2022
The overall goal of our research program is to improve the health of children with rare diseases, with a specific focus on unexplained epilepsy, very early onset inflammatory bowel disease and other Children's Rare Disease Cohorts. Among many different contributors to pediatric rare diseases, genetic factors play an essential role in the development and progression. We want to discover new genes associated with pediatric rare diseases to learn from them about the key molecular mechanisms that cause specific rare diseases. To do this, we have been analyzing genome-scale biological and clinical data collected from patients' clinical data, their blood, and research surveys. We have been applying sophisticated statistical and computational tools to these data to gain new insights about why and how pediatric rare diseases happen.
To better understand the genetic and biological basis of pediatric rare diseases and traits, we will compare and contrast these genetic signals with the relevant tissue based traits in the UK Biobank. Understanding whether a genetic variant affects a specific pediatric rare disease or trait and if it also affects other diseases or traits will help us design more relevant functional follow-up experiments of novel genetic discoveries. Similarly, we will use our gene expression data to discover new connections between UK Biobank human traits and pediatric rare disease functions. Lastly, we will use all UK Biobank subjects without specific pediatric rare diseases as a reference group in studies we are conducting to find new genes and genetic variants for specific pediatric rare diseases. We expect that it will take at least three years to complete all the proposed analyses. Achieving these goals will help us better understand the underlying biology of specific pediatric rare diseases and phenotypes that we study. Ultimately, our efforts will allow us to identify possible biological targets for diagnostics, treatments, and cures for pediatric rare diseases.