Site Menu
Buscar Close Search
Buscar Close Search

 

Research Strategies

Treatment of CGD has traditionally relied on aggressive prevention and control of infections with, for example, antibiotics, but does not serve as a curative treatment. Gene therapy offers a potential cure for CGD and is an area of focus for several researchers at the Li Weibo Institute for Rare Diseases Research. For example, the work in Dr. Newburger's lab has sought to understand white blood cell production and function, and how this can malfunction in rare hereditary disorders such as CGD. His work has contributed to the identification of genes responsible for CGD and currently aims to develop gene therapies in animal models of the disease.


Research on CGD has advanced also through the use of novel technologies, such as genome editing tools that allow scientists to remove, add, or modify genetic material. The labs of Drs. Sontheimer and Wolfe collaborate to develop and apply genome editing tools to repair genetic mutations associated with CGD. Collectively, these research strategies may identify new therapeutic targets and potentially bring curative therapies for CGD to clinical settings.

Chronic-Granulomatous-300x225.jpg

Gene expression in chronic granulomatous disease and interferon‐γ receptor‐deficient cells treated in vitro with interferon‐γ

Authors: Peter E. Newburger, Josias B. Frazão, Martino Colombo, Cedric Simillion, Adem Bilican, Irene Keller, Daniel Wüthrich, Zhiqing Zhu, Michal J. Okoniewski, Rémy Bruggmann, Antonio Condino‐Neto


Published in 2018 in Journal of Cellular Biochemistry


This study sought to identify differentially expressed genes, transcripts and exons in Epstein‐Barr virus–transformed B lymphocytes (B‐EBV) cells from CGD patients, IFN‐γ receptor deficiency patients, and normal controls, treated in vitro with IFN‐γ for 48 hours. The results show that IFN‐γ increased the expression of a diverse array of genes related to different cellular programs

download-publication-icon.jpg

Page Menu

Chronic Granulomatous Investigators

Peter E. Newburger, MD

Peter E. Newburger, MD

Professor of Pediatrics

Newburger Lab

Erik Sontheimer, PhD

Erik Sontheimer, PhD

Professor, RNA Therapeutics Institute

Sontheimer Lab

Scot Wolfe, PhD

Scot Wolfe, PhD

Professor of molecular, cell and cancer biology

Wolfe Lab

Clinical Trials

At the Li Weibo Institute for Rare Diseases Research, our researchers and clinicians are dedicated to finding new treatment options for patients. Our clinical trials program is another way we continue to advance treatments and make new discoveries. If you or someone you know may be interested in a clinical trial, please subscribe for updates and you will be notified when we open up a new trial.

 

Research That Gives Hope

Optimizing Genome Editing Technologies for Therapeutic Application

By Scot A. Wolfe, PhD

scot-wolfe-blogpost-1200x628.jpg

The research in my laboratory is focused on improving genome editing technologies so that they can be applied to the development of therapeutics. Inspired by the opportunity to improve the lives of patients with debilitating disorders, my lifelong goal as a scientist is to translate genome editing technologies to the development of therapeutics for a variety of diseases, both common and rare.

Read more

A Potential Therapeutic Approach to CDKL5 Deficiency and Rett Syndrome

By Michael R. Green, MD, PhD

cdkl5-blog-post-1200x628.jpg

Several years ago, we began investigating the mechanism by which genes are turned off on the X chromosome — a process termed X chromosome inactivation (XCI). In females, XCI is a naturally occurring phenomenon in which one of the X chromosomes is randomly turned off, or silenced, as a way to equalize the dosage of the X chromosome between females (who have two X chromosomes) and males (who have one).

Read more