In addition to conducting its own research in cancer (including breast cancer and leukemia), human genetic variation, mechanisms of cellular differentiation, and other genetic disorders, the Coriell Institute for Medical Research also serves the entire scientific community by maintaining the world's largest collection of human cells for research. The identification of genes associated with Huntington disease, cystic fibrosis, Alzheimer disease, Down Syndrome and a severe form of manic depression, among many others, relied on cells from these collections.

Recently, the Institute established Breast Cancer Research Resource, and the Coriell Cell Repositories were instrumental in the isolation of the genes responsible for early-onset Alzheimer disease and ataxia telangiectasia (AT).