Genomics of common and rare diseases

Genomics of common and rare diseases


This theme explores how the application of genomics data science to genetic and phenotypic data from studies of illnesses and traits can provide insight into the biology of human disease. The genetic data generated from patients, their families and the general population includes genome-wide association studies (GWAS) and exome and whole genome sequencing studies. These data can capture the full spectrum of DNA variants, in terms of frequency and size, which influence an individual’s likelihood of developing an illness. These data are complemented by an ever-expanding array of functional genomics applications that assay biological activities such as gene expression, gene regulation and genetic interactions down to the level of individual cell types.

Phenotypic data includes information on individuals’ health and their environment, past and present, plus other measures of biological functions within different systems of the body. Together, these data help us understand how genes and environment combine to cause or increase risk of illness. Strengths in Irish universities include genetic studies of brain disorders, cancer, cardiovascular illness, nutrition and disorders related to inflammation and the immune system.

Our partner organization Genomics Medicine Ireland is performing large-scale, population-based genomics in Ireland to study rare (Mendelian) diseases, complex traits and cancer. These studies can also leverage available international population-based biobanks that now contain genetic and phenotypic on millions of individuals. Data science is rapidly evolving in this space with novel methods continually being advanced to investigate the genetic basis of illness, develop new diagnostics and therapies and transform clinical care using genomics.

Our Team