Studying mouse pluripotent stem cells carrying disease-causing mutations has already greatly enhanced scientific and medical knowledge of how genetic diseases develop. The institute is working to further this understanding by studying human pluripotent stem cell lines carrying mutations found in such genetic disorders as cancer, Parkinson's disease, Alzheimer's disease, Lou Gehrig's disease, adult and juvenile diabetes, autoimmune diseases, allergic disorders, and early onset heart and cardiovascular disease.

By studying how specific genetic mutations cause a cell to become diseased and how the proteins made by the mutated genes fail to function properly, researchers hope to generate drugs or therapies that make up for the genetic defects behind many diseases.

Because the human pluripotent stem cell lines approved for use under U.S. federal funding do not carry the mutations that would make the cell lines useful for studying genetic diseases, one goal of the institute is to generate new pluripotent stem cell lines. By creating human pluripotent stem cell lines that contain the genetic information that predisposes an individual to develop a specific disease, scientists can study the multi-step progression of that disease in many different tissue types.

The discovery of a method for making induced pluripotent stem cell (iPS cells) has revolutionized the creation of pluripotent stem cell lines. Through exposure to four Yamanaka factors, adult cells can be reset to a pluripotent state.  Institute researches have also been researching ways of changing mature cells directly into dedicated stem cells without going through pluripotent state.

An older method of creating pluripotent cell lines involves removing the nucleus from an existing pluripotent stem cell line and replacing it with a nucleus from an adult cell that carries genetic mutations implicated in human disease.

Another method is by transplanting an adult nucleus into an egg that has had its nucleus removed, stimulating the cell to divide as if the egg had been fertilized, and culturing the blastocyst-stage pluripotent cells. This process, called nuclear transplantation, has had limited success in mice, and has never been shown to be successful using human cells.

In addition to producing by nuclear transplantation mouse and eventually human pluripotent stem cell lines using nuclei from patients with known genetic diseases, researchers might even try to use cancer stem cell nuclei to produce pluripotent stem cell lines to study how the genetic alterations in the progression to the cancer operate developmentally to recreate cancer cells from normal cells.