ALZ: Genetic variants can run, but they can’t hide

Root cause: A new Feinstein Institute study will attempt to unearth the undiscovered genetic markers behind Alzheimer's disease.

The Feinstein Institute for Medical Research is targeting genetic risk factors behind Alzheimer’s disease, the first of many steps toward new potential treatments.

Feinstein Institute assistant professor Yun Freudenberg-Hua has been awarded a five-year, $600,000 grant by the National Institutes of Health’s National Institute on Aging, supporting her mission to better understand the genetic causes of a disease that inflicts an estimated 5.5 million Americans.

Ultimately, the doctor and her staff hope to develop new treatments and intervention programs for people suffering from Alzheimer’s, a chronic neurodegenerative disease responsible for up to 70 percent of all dementia cases, according to the Alzheimer’s Association.

Although many common “genetic-risk variants” associated with Alzheimer’s disease have been identified, “most of the inherent risk factors remain unexplained,” according to Freudenberg-Hua, who will expand on previous Feinstein Institute studies – specifically, the work of Peter Davies, director of Feinstein’s Litwin-Zucker Center For Study of Alzheimer’s Disease – to “search for and identify rare genetic-risk variants which can further explain why certain individuals develop Alzheimer’s disease.”

Yun Freudenberg-Hua: Solving a genetic mystery.

“This project may allow us to identify biological pathways that can provide new treatment opportunities based on a patient’s specific genetic makeup,” added Freudenberg-Hua, whose team will compare the genes of patients with Alzheimer’s disease against those of healthy individuals aged 100 years and older.

Kevin Tracey, president and CEO of the Northwell Health system’s research-and-development institution, said Freudenberg-Hua’s long-term study – “Identification of Risk Genes by Comparing Whole Genome Sequences of Alzheimer’s Disease Patients and Cognitively Healthy Centenarians” – comes at a critical time for those millions of Alzheimer’s patients and the researchers trying to help.

“NIH investment in Dr. Freudenberg-Hua’s study of the genetics of Alzheimer’s disease is significant and timely,” Tracey said in a statement. “Federal support for this important peer-reviewed research is a crucial step toward filling an existing knowledge gap, one that must be filled in order to provide answers to help patients.”