The Research Institute for Children’s Health at Case Western Reserve University School of Medicine aims to implement strategies to develop safe, effective therapies for childhood disorders, and to do so as rapidly as possible, focusing on disorders with genetic involvement.
Our researchers focus on children's medical conditions in several areas:
Our pulmonary research includes disorders such as cystic fibrosis (CF) and primary ciliary dyskinesia (PCD) that affect the ability of the lung to remove harmful substances and microorganisms. Our research in these disorders centers on ways to repair the mutations that cause them.
Endocrine and Metabolic
Disorders of the endocrine system, like diabetes, and enzyme insufficiency of the liver, such as glycogen storage diseases (GSDs), affect energy and metabolism. These disorders are being studied for possible drugs to correct the metabolic insufficiencies, but also ways to repair mutations that cause the disorders.
Our researchers are studying disorders of myelination and mucopolysaccharidoses to destroy nerve function by very different mechanisms. We are searching for drugs that can restore function, but also ways to correct the mutant gene causing each of the disorders.
Polycystic kidney disease (PKD) and some glycogen storage diseases affect the kidneys. Our current research in these disorders is to better understand how the diseases alter kidney biology so that therapeutic strategies can be devised.
Intellectual disabilities present a specific challenge in that one needs to understand events that happen early in development. Our scientists are exploring strategies to examine cells grown in the lab to model early developmental processes and find ways to modify them.
Rare disorders are often undiagnosed because of unusual presentation, or misdiagnosed because they resemble more common disorders. Current genomic sequencing technologies can help to provide accurate diagnoses in these cases.