Feinberg
Northwestern Medicine | Northwestern University | Faculty Profiles

News Center

  • Categories
    • Campus News
    • Disease Discoveries
    • Clinical Breakthroughs
    • Education News
    • Scientific Advances
  • Press Releases
  • Media Coverage
  • Podcasts
  • Editor’s Picks
    • COVID-19
    • Cardiology
    • Cancer
    • Neurology and Neuroscience
    • Aging and Longevity
    • Artificial Intelligence in Medicine
  • News Archives
  • About Us
    • Media Contact
    • Share Your News
    • News Feeds
    • Social Media
    • Contact Us
Menu
  • Categories
    • Campus News
    • Disease Discoveries
    • Clinical Breakthroughs
    • Education News
    • Scientific Advances
  • Press Releases
  • Media Coverage
  • Podcasts
  • Editor’s Picks
    • COVID-19
    • Cardiology
    • Cancer
    • Neurology and Neuroscience
    • Aging and Longevity
    • Artificial Intelligence in Medicine
  • News Archives
  • About Us
    • Media Contact
    • Share Your News
    • News Feeds
    • Social Media
    • Contact Us
Home » Grant Funds Classification of Disease-Causing Genetic Mutations
Scientific Advances

Grant Funds Classification of Disease-Causing Genetic Mutations

By Nora DunneSep 5, 2014
Share
Facebook Twitter Email
The lab of Alfred L. George Jr., MD, chair of Pharmacology, will study genetic mutations that cause a heart condition called congenital long-QT syndrome.

Northwestern University Feinberg School of Medicine has received a $5 million grant from the National Institutes of Health (NIH) to develop a model for classifying disease-causing genetic mutations.

Alfred L. George Jr., MD, chair of Pharmacology and director of the Center for Pharmacogenomics, was awarded the grant, which will span the next four years.

The grant will fund research that focuses on congenital long-QT syndrome, a heart rhythm disorder that can lead to sudden death in children and young adults. The inherited form of the disease is caused by mutations that destabilize the electrical activity of heart muscle.

Not every variant identified by genetic testing predisposes a patient to the disease. Currently, physicians don’t have the data nor the predictive tools to determine whether certain variations cause the disease. These are called variants of unknown significance (VUS).

“Physicians are finding new mutations every day but they don’t know how to interpret many of them, nor do the genetic testing labs,” said George. “A very large fraction of genetic results are ambiguous. This grant strives to make this interpretation less ambiguous so treatment strategies can be more precise and appropriate.”

The study will look specifically at variants in the most common mutated gene in patients with long-QT syndrome, which codes for a potassium channel. The goal is to create a computational model that more accurately classifies a VUS and consequently helps physicians avoid unnecessary and potentially harmful interventions on patients with benign variants.

“We plan to perform an industrial-scale functional analysis of mutations in long-QT syndrome and in parallel study the structure of the affected protein,” said George. “We’ll take those two large data sets – structure and function – and meld them into a predictive computer algorithm.”

To make such large-scale analysis possible, the Department of Pharmacology has invested in a high-throughput automated electrophysiology instrument capable of performing 384 simultaneous experiments – the first tool of its kind in the United States and at any academic institution worldwide. With it, George’s lab will be able to examine dozens of mutations at a time. The instrument will also lay the groundwork for a new high-throughput screening facility within the department focused on ion channel drug targets.

The scientists hope that the algorithm can eventually be applied to predict the significance of variants in other ion channels, such as those associated with epilepsy and deafness.

George’s lab will collaborate with investigators at Vanderbilt University to conduct this study.

Cardiology Pharmacology Research
Share. Facebook Twitter Email

Related Posts

Coaxing Hair Growth in Aging Hair Follicle Stem Cells

Jun 9, 2023

New Therapeutic Target for Osteoarthritis Identified 

Jun 9, 2023

Largest Cell Map of Human Lung Reveals Insights Into Disease

Jun 8, 2023

Comments are closed.

Latest News

Coaxing Hair Growth in Aging Hair Follicle Stem Cells

Jun 9, 2023

New Therapeutic Target for Osteoarthritis Identified 

Jun 9, 2023

Largest Cell Map of Human Lung Reveals Insights Into Disease

Jun 8, 2023

McNally Honored with Walder Award

Jun 8, 2023

Biological Aging Increases Risk of Depression, Anxiety in Adults 

Jun 7, 2023
  • News Center Home
  • Categories
  • Press Release
  • Media Coverage
  • Editor’s Picks
  • News Archives
  • About Us
Flickr Photos
ANB05555
ANB08990
ANB09022
ANB09063
ANB09008
ANB08781
ANB08971
ANB09000
ANB08992
ANB09015
ANB09058
ANB09048

Northwestern University logo

Northwestern University Feinberg School of Medicine

RSS Facebook Twitter LinkedIn Flickr YouTube Instagram
Copyright © 2023 Northwestern University
  • Contact Northwestern University
  • Disclaimer
  • Campus Emergency Information
  • Policy Statements

Type above and press Enter to search. Press Esc to cancel.