Alzheimer's disease research In 1993, Pericak-Vance and her colleagues identified the APOE-4
allele as a significant genetic risk factor for late-onset Alzheimer's disease. Their research demonstrated that individuals carrying this allele had an increased likelihood of developing the disease, making it the most significant genetic risk factor beyond age. Pericak-Vance and colleagues published a study in
Science identifying the APOE-4 allele as a genetic risk factor for late-onset Alzheimer's disease, one of the first gene variants associated with a common neurological disorder. As of 2023, the study is the most-cited original research paper in Alzheimer's studies of the past 50 years. In 1994, Pericak-Vance and her team demonstrated that the APOE-e2 allele had a protective effect against Alzheimer's disease, the earliest example of different alleles of the same gene having differing effects on disease susceptibility. Subsequent research has cited these findings as influential in shaping approaches to studying genetic risk and protection in complex diseases. In 2018, Pericak-Vance co-authored a study examining the APOE-ε4 allele in Puerto Rican and African American populations, which highlighted how ancestry can moderate genetic risk for Alzheimer's disease. In 2025, Pericak-Vance and colleagues analyzed the relationship between telomere length and cognitive impairment in Midwestern Amish populations in the context of understanding the process of age-related
neurodegeneration. The team determined that telomere length decreased during aging — an expected finding, but found no significant results between cognition and telomere length. ==Honors and awards==