Skip to Content
800-533-8762
  • Careers
  • Newsroom
  • Health Care Professionals
  • About Us
  • Contact Us
UPMC
  • Find a Doctor
  • Services
    • Frequently Searched Services
    • Frequently Searched Services
      Allergy & Immunology Behavioral & Mental Health Cancer Ear, Nose & Throat Endocrinology Gastroenterology Heart & Vascular Imaging Neurosciences Orthopaedics
      Physical Rehabilitation Plastic & Reconstructive Surgery Primary Care Senior Services Sports Medicine Telemedicine Transplant Surgery Walk-In Care Weight Management Women’s Health
      See all Services
    • Services by Region
    • Find a UPMC health care facility close to you quickly by browsing by region.
      UPMC in Western Pa. Western Pa. and New York
      UPMC in Central Pa. Central Pa.
      UPMC in North Central Pa. North Central Pa.
      UPMC in Western Md. Maryland & West Virginia
    • See All Services
  • Locations
    • Locations by Type
    • Locations by Type
      UPMC hospitals
      Hospitals
      Physical Therapy
      Physical Therapy
      Urgent care
      Walk-In Care
      UPMC Outpatient Centers
      Outpatient Centers
      UPMC Imaging Services
      Imaging
      Community Health Centers
      Community Health Centers
      See All Locations
    • Locations by Region
    • Locations by Region
      UPMC in Southwest Pa. Southwest Pa.
      UPMC in North Central Pa. North Central Pa.
      UPMC in Northwest Pa and Ny. Northwest Pa. & Western N.Y.
      UPMC in West Central Pa. West Central Pa.
      UPMC in Central Pa. Central Pa.
      UPMC in Western Md. Maryland & West Virginia
    • See All Locations
  • Patients & Visitors
    • Patient & Visitor Resources
    • Patient & Visitor Resources
      Patients and Visitors Resources Pay a Bill Classes & Events Medical Records Health Library Patient Information
      Patient Portals Privacy Information Shared Decision Making Traveling Patients Visitor Information
      Man uses mobile phone
      Pay a Bill
      Nurse reviews medical chart
      Request Medical Records
  • Patient Portals
  • Find Covid-19 updates
  • Schedule an appointment
  • Request medical records
  • Pay a bill
  • Learn about financial assistance
  • Find classes & events
  • Send a patient an eCard
  • Make a donation
  • Volunteer
  • Read HealthBeat blog
  • Explore UPMC Careers
Skip to Content
UPMC
  • Patient Portals
  • For Patients & Visitors
    • Find a Doctor
    • Locations
    • Patient & Visitor Resources
    • Pay a Bill
    • Services
    • More
      • Medical Records
      • Financial Assistance
      • Classes & Events
      • HealthBeat Blog
      • Health Library
  • About UPMC
    • Why UPMC
    • Facts & Stats
    • Supply Chain Management
    • Community Commitment
    • More
      • Financials
      • Support UPMC
      • UPMC Apps
      • UPMC Enterprises
      • UPMC International
  • For Health Care Professionals
    • Physician Information
    • Resources
    • Education & Training
    • Departments
    • Credentialing
  • Careers
  • Contact Us
  • Newsroom
  • UPMC >
  • Media Relations >
  • News Releases >
  • 050521 Kamboh NIA AD Grant
Media Relations
News Releases
Central Pa. News
North Central Pa. News
Contact Us
Experts
Community-Focused News
Media Kits
Media RSS
Media Relations
News Releases
Central Pa. News
North Central Pa. News
Contact Us
Experts
Community-Focused News
Media Kits
Media RSS

Pitt Awarded $10.7M for Alzheimer’s Disease Genetic Research

For Journalists

Allison Hydzik
Director, Science and Research
412-647-9975
hydzikam@upmc.edu

Sheila Davis
Manager
412-313-6070
davissn2@upmc.edu

Want to Make an Appointment or Need Patient Information?
Contact UPMC at

1-800-533-8762.

Go to Find a Doctor to search for a UPMC doctor.

2021 PITT HS horiz

5/5/2021

PITTSBURGH – Despite decades of research and investment, the genetic underpinnings of Alzheimer’s disease are still largely unknown, stymieing drug development and early diagnosis efforts. A new $10.7 million, five-year project led by the University of Pittsburgh Graduate School of Public Health and Washington University School of Medicine in St. Louis aims to change that with the first comprehensive study using whole genome sequencing to address a critical gap in knowledge about the disease. 

 

With funding from the National Institute on Aging, the research team plans to identify the genetic variants, genes and pathways that lead to formation of plaques and tangles, two specific biomarkers that begin accumulating in the brains of people with Alzheimer’s 15 to 25 years before they show symptoms. 

 

Ilyas Kamboh release“All of the clinical trials to find a drug to stop Alzheimer’s disease have failed because they’ve focused on patients who have already developed the disease, so they already had high levels of plaques and tangles,” said Ilyas Kamboh, Ph.D., professor of human genetics and epidemiology at Pitt Public Health. “Once you have the plaques and tangles, it seems to be an irreversible process, so we’re focused on the preclinical stage of the disease.”

 

Kamboh and Carlos Cruchaga, Ph.D., professor of psychiatry at Washington University, are co-principal investigators on the project. Together, they intend to work on as many as 5,000 participants derived from the Pitt and Knight Alzheimer’s Disease Research Centers with a high risk of Alzheimer’s and the associated biomarker data to identify genetic variants that manifest decades before clinical symptoms of the disease.

 

According to the World Health Organization, Alzheimer’s disease is the most common form of dementia, with about 50 million cases worldwide and 6 million new cases each year. It is one of the major causes of disability and dependency among older people. 

 

The plaques and tangles in the brain associated with Alzheimer’s can be thought of like cholesterol in the arteries of the heart that is associated with heart disease, Kamboh explains. Cholesterol can quietly accumulate over years along the coronary arteries without any clinical symptoms until it causes a heart attack, doing irreversible damage to the heart. Some genes predispose people to accumulating more cholesterol. Knowing this can allow those people to take medication and make lifestyle changes that reduce their risk of heart disease. It also can prompt pharmaceutical companies to develop drugs that target the genetic pathways that lead to cholesterol formation.

 

Kamboh and Cruchaga’s project will be looking for the genetic underpinnings of plaques and tangles known to define Alzheimer’s disease and formed due to abnormal accumulation of amyloid-beta and tau proteins, respectively. Both can be found early in the brains of living people through neuroimaging and testing of the cerebrospinal fluid. 

 

“Genetic studies of plaques and tangles provide several advantages over other classic case-control studies. Plaques and tangles can be used as quantitative traits, which is a more powerful approach to identify genes implicated in disease than case-control study design,” said Cruchaga, the Reuben Morriss III Professor of Neurology at Washington University School of Medicine. “In addition, as these phenotypes are closer to the biology it is more likely that this study will translate the genetic findings to specific pathways leading to the identification of druggable targets. We plan to use the genetic information to create individual-level predictions to determine the risk of someone developing Alzheimer’s disease pathology.” 

 

“Previously, we could see these plaques and tangles only after death, through a brain autopsy,” Kamboh said. “Now we can identify them while people are living, but that is done through expensive imaging and invasive testing. New methods also are being developed to detect the presence of abnormal amyloid-beta and tau proteins in less expensive blood tests. Hopefully, by learning more about the genes associated with the plaques and tangles, we can uncover underlying mechanisms of Alzheimer’s disease and discover potential drug targets.”
PHOTO INFO: (click image for high-res version)

 

CREDIT: University of Pittsburgh

CAPTION: Ilyas Kamboh, Ph.D., professor of human genetics and epidemiology, University of Pittsburgh Public Health.

UPMC
200 Lothrop Street Pittsburgh, PA 15213

412-647-8762 800-533-8762

Patients And Visitors
  • Find a Doctor
  • Locations
  • Pay a Bill
  • Patient & Visitor Resources
  • Disabilities Resource Center
  • Services
  • Medical Records
  • No Surprises Act
  • Price Transparency
  • Financial Assistance
  • Classes & Events
  • Health Library
Health Care Professionals
  • Physician Information
  • Resources
  • Education & Training
  • Departments
  • Credentialing
Newsroom
  • Newsroom Home
  • Inside Life Changing Medicine Blog
  • News Releases
About
  • Why UPMC
  • Facts & Stats
  • Supply Chain Management
  • Community Commitment
  • Financials
  • Supporting UPMC
  • HealthBeat Blog
  • UPMC Apps
  • UPMC Enterprises
  • UPMC Health Plan
  • UPMC International
  • Nondiscrimination Policy
Life changing is...
Follow UPMC
  • Contact Us
  • Website/Email Terms of Use
  • Medical Advice Disclaimer
  • Privacy Information
  • Active Privacy Alerts
  • Sitemap
© 2025 UPMC I Affiliated with the University of Pittsburgh Schools of the Health Sciences Supplemental content provided by Healthwise, Incorporated. To learn more, visit healthwise.org
Find Care
Providers
Video Visit
Portal Login

Chat Keywords List

  • cancel or exit: Stops your conversation
  • start over: Restarts your current scenario
  • help: Shows what this bot can do
  • terms: Shows terms of use and privacy statement
  • feedback: Give us feedback
Continue
Chat with UPMC
RESTART
MENU
CLOSE