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Therapeutic Strategies

Excess glucocerebroside that builds up in the cells of patients with Gaucher disease can be broken down by enzyme replacement therapy (ERT) or partially blocked by substrate reduction therapy (SRT), both of which are routine treatments of Gaucher disease. Although ERT and SRT have been effective in resolving many Gaucher disease symptoms, their effectiveness on skeletal and neurological symptoms in particular has been limited. One approach that has the potential to address these barriers is gene therapy.


The labs of Drs. Ginns and Ostroff are working toward developing an orally administered gene therapy to restore enzyme activity in mouse models of Gaucher disease, with the ultimate goal of improving delivery of glucocerebrosidase to many tissues, including bone and brain tissue. The successful development of this innovative therapeutic strategy could provide a safer, more efficient, and cost-effective treatment for Gaucher disease. The Ginns Lab is also using mouse models of Gaucher disease to investigate Gaucher-related Parkinsonism, as individuals carrying a GBA1 mutation have an increased risk of developing Parkinson’s disease.

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Glucocerebrosidase haploinsufficiency in A53T α-synuclein mice impacts disease onset and course

Authors: Tayebi N, Parisiadou L, Berhe B, Gonzalez AN, Serra-Vinardell J, Tamargo RJ, Maniwang E, Sorrentino Z, Fujiwara H, Grey RJ, Hassan S, Blech-Hermoni YN, Chen C, McGlinchey R, Makariou-Pikis C, Brooks M, Ginns EI, Ory DS, Giasson BI, and Sidransky E


Published in 2017 in Molecular Genetics & Metabolism


To investigate the link between GBA1 mutations and Parkinson’s disease, this study examined the onset and course of disease in a mouse model recapitulating the accelerated Parkinson’s disease course observed in loss-of-function GBA1 mutation carriers.

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Gaucher Disease Investigators

Edward Ginns, MD, PhD

Edward Ginns, MD, PhD

Director of the Lysosomal Diagnosis Treatment and Research Center, Professor of Neurology and Psychiatry, Medical Director, Molecular Diagnostics Laboratory

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Gary Ostroff, PhD

Gary Ostroff, PhD

Professor, Program in Molecular Medicine

Website

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

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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.

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A Potential Therapeutic Approach to CDKL5 Deficiency and Rett Syndrome

By Michael R. Green, MD, PhD

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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).

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