Metabolic Disease | CHOP Research Institute

OT-58 for Homocystinuria

This research study is focused on patients who have Cystathionine beta synthase deficiency Homocystinuria (CBSDH).

MPS Biomarkers of Joint Disease

Establish connections between biomarkers and the stage and grade of bone and cartilage disease in MPS patients.

‘The future of research benefits from diversity:’ Faculty Spotlight With Liming Pei, PhD

Published on

Oct 31, 2022

in Cornerstone Blog

Liming Pei, PhD, studies how different organs react to energy cues and communicate with each other.

DTX401 Gene Therapy in Glycogen Storage Disease (GSD) Type Ia

Our team at the Congenital Hyperinsulinism Center at CHOP is working on a research study to determine whether an experimental gene therapy product, DTX401, is safe and effective in people with glycogen storage disease type Ia (GSDIa)

Nina Hattiangadi Thomas, PhD, ABPP-Cn

Dr. Thomas is a pediatric neuropsychologist with research interests in the neuropsychological effects of medical conditions including leukodystrophies and other neurologic disease, pediatric sepsis, neurodermatoses, cardiac conditions, genetic disorders, and rheumatic and endocrine disorders.

E-mail:

thomasn [at] chop.edu

Liming Pei, PhD

Dr. Pei's research aims to understand the molecular underpinnings of cardiac remodeling associated with cardiomyopathy and heart failure. He is particularly interested in two areas of cardiac remodeling: metabolic reprogramming, and secretion of heart-derived hormones to communicate with other organs.

E-mail:

peil [at] chop.edu

Medicine's Version of Santa's Workshop: A Laboratory Medicine Q&A

Published on

Dec 10, 2015

in Cornerstone Blog

Laboratory medicine specialists in pediatrics have a lot in common with Santa’s elves.