• Whole-exome sequencing links a variant in DHDDS to retinitis pigmentosa.
• Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease.
• Interleukin 7 receptor alpha chain (IL7R) shows allelic and functional association with multiple sclerosis.
• Complement Factor H variant increases the risk of age-related macular degeneration.
• Gene dose of Apolipoprotein E Type 4 allele and the risk of Alzheimer disease in late onset families.
• List of Publications

Dr. Pericak-Vance is the Dr. John T. Macdonald Foundation Department Professor of Human Genomics and Director of the John P. Hussman Institute for Human Genomics. She is a founding fellow of the American College of Medical Genetics and a board-certified Ph.D. medical geneticist. Dr. Pericak-Vance is a global leader in the genetics of common diseases. She excels at the integration of genomic and statistical technologies and their application to diseases of public health importance in general, and to neurologic diseases in particular. Her more than 500 peer-reviewed papers demonstrate outstanding productivity and establish important milestones in diseases. She has a particular interest in neurogenetic diseases such as Alzheimer disease, amyotrophic lateral sclerosis and multiple sclerosis, and has several active studies in neurodevelopmental disorders, such as autism and Asperger disorder. Her research also is breaking ground in the genetics of eye diseases such as age-related macular degeneration, glaucoma and retinitis pigmentosa.
 
She pioneered the use of novel disease gene mapping, leading to the identification of apolipoprotein E (APOE) as the major susceptibility gene for Alzheimer disease. Her recent accomplishments include the 2007 identification of the IL7R risk gene for multiple sclerosis, the 2005 discovery of the complement factor H gene that determines an individual's risk for developing age-related macular degeneration.

Her greatest contribution has been her leadership in the application of methodological innovations capitalizing on the Human Genome Project that affect not only the neurological sciences but all of medicine. Dr. Pericak-Vance is internationally recognized by her peers as a leader in human genetics research. In 1997, Newsweek magazine named Dr. Pericak-Vance to the "Century Club: 100 People to Watch as We Move to the Next Millennium." Also in 2001, Dr. Pericak-Vance received the international "Louis D" Scientific Prize from the Institut de France's Academie des Sciences for her AD research. She was elected to the Institute of Medicine in 2004. Dr. Pericak-Vance holds numerous research grants through the National Institutes of Health that support her research into the genetics of complex disease. In 2011, she received the UM Provost Award for scholarly activity and a lifetime achievement award from the Alzheimer’s Association.  In 2012, she was named a fellow of the American Association for the Advancement of Science.