Lysosomal Storage Diseases | CHOP Research Institute

Lysosomal Storage Diseases

Published on
Dec 21, 2023
Shahreen Amin, MD, PhD, discusses her definition of diversity in science and her research on lysosomal storage diseases.

The purpose of this study is to test and find a safe dose of this investigational gene therapy PBGM01 (also known as, the “study drug”) in children who have been diagnosed with the early infantile or late infantile form of GM1.

Fostering the careers of the next generation of scientists who seek to discover causes and potential treatments for the class of disorders known as neurodevelopmental disabilities.

In advancing intellectual and developmental disabilities (IDD) research for more than 29 years, the Intellectual and Developmental Disabilities Research Center (IDDRC) wholeheartedly embraces today’s novel concepts and technologies to discover the causes of IDD and uses this knowledge to improve outcomes for affected people.

Published on
Jul 31, 2020
This week’s roundup features projections of the spread of COVID-19 and novel findings on gene therapy to treat the whole brain. This and more In The News.
Published on
Dec 4, 2019
John Wolfe, VMD, PhD, receives grant to study gene therapy treatment for lysosomal storage disorders with severe disease of the brain.

Dr. Davidson works to understand the molecular basis of childhood onset neurodegenerative diseases and the development of gene and small molecule therapies for treatment. She also focuses on how noncoding RNAs participate in neural development and neurodegenerative disease processes, and how they can be harnessed for therapies.

davidsonbl [at]
Published on
Nov 2, 2018
In this week's roundup, CHOP scientists take a stem cell approach to restore vision to people who have lost key vision cells.