Miller School Human Geneticist’s Study Named One of Journal’s Classics
A publication by Margaret A. Pericak-Vance, Ph.D., Director of the John P. Hussman Institute for Human Genomics and the Dr. John T. Macdonald Foundation Professor of Human Genomics, was selected as one of the top ten classic studies ever published in the American Journal of Human Genetics (AJHG).
The AJHG editorial staff selected ten studies out of more than 10,000 papers published in the journal for a special edition that commemorated its 65th year of publication, titled “AJHG Classics.” Pericak-Vance was first author of the “classic” publication, “Linkage studies in familial Alzheimer disease: Evidence for chromosome 19 linkage,” published in 1991.
Each of the selected publications “altered concepts and approaches in human genetics and remains relevant to modern investigations of human variation as well as genetic disease,” according to the journal. Pericak-Vance’s study was the first to locate a form of late-onset Alzheimer’s disease to chromosome 19. This data led to her subsequent discovery of the dose effect of the Apolipoprotein E (APOE) gene on risk and age of onset in Alzheimer’s disease published in the prestigious journal Science. APOE also maps to chromosome 19.
“Dr. Pericak-Vance redefined the approach to investigating the causes and origins of complicated genetic diseases,” said Pascal J. Goldschmidt, M.D., Senior Vice President for Medical Affairs and Dean of the University of Miami Miller School of Medicine and CEO of the University of Miami Health System. “Her study opened the door for numerous discoveries in multiple fields that have led to better diagnoses, treatments, and drug therapies. The specific study that was selected as one of the top ten for the AJHG Classics publication was a formidable discovery in the field of Alzheimer’s genetics, and it led to major advances in this critical field.”