Intellectual Disability | CHOP Research Institute

Krantz Laboratory

The Krantz lab focuses on identifying molecular etiologies of multisystem developmental diagnoses, structural birth defects, and intellectual disability. Using cellular and animal models, the investigators study newly identified genes towards identification of therapeutic targets.

Genes, Genomics, and Pediatric Disease Affinity Group

Providing an innovative program focused on the molecular genetic basis of disease.

New Genetic Syndrome Linked to Developmental Delay, Intellectual Disability

Published on

Apr 27, 2020

in Cornerstone Blog

A protein defect affects a process called glycosylation, and results in developmental delay and intellectual disability.

Genetics Researchers Find New Neurodevelopmental Syndrome

Published on

Oct 3, 2019

in Press Releases

Researchers have identified a gene mutation that causes developmental delay, intellectual disability, behavioral abnormalities and musculoskeletal problems in children.

Nathan J. Blum, MD

Dr. Blum is the principal investigator for the national multi-site Developmental-Behavioral Pediatric Research Network (DBPNet). Recent studies in the network relate to the assessment and treatment of attention deficit/ hyperactivity disorder (ADHD) and of autism spectrum disorders (ASD).

E-mail:

blum [at] chop.edu

In The News: New Syndrome Named, National Honor for Pediatric Oncologist

Published on

Apr 8, 2016

in Cornerstone Blog

Check out the most exciting research news from The Children’s Hospital of Philadelphia this week. From leading a group of international researchers who identified a new syndrome to working on a prestigious panel that will give guidance about ways to advance treatments for children with cancer, CHOP researchers are putting pediatric research in motion.