Whole Exome Sequencing | CHOP Research Institute
 

Whole Exome Sequencing

The Myelin Disorders Biorepository Project (MDBP)

The Myelin Disorders Biorepository Project (MDBP)

This study involves the collection of medical information and samples from people with a confirmed or suspected leukodystrophy or related disorder affecting the white matter of the brain, as well as "healthy controls" who are not known to be affected by one of these disorders.

Center for Applied Genomics Laboratory

Center for Applied Genomics Laboratory

The Center for Applied Genomics (CAG) develops new and better ways to diagnose and treat children with genetic disorders, including attention-deficit/hyperactivity disorder, asthm

Genetic Discovery Leads to New Treatment for Defective Lymphatic Circulation

Published on
Jul 3, 2019
in Cornerstone Blog
New Treatment
Snapshot Science shares a collaborative science success story that helped a preteen with a genetic mutation that disrupted his lymphatic vessels.

Collaborators Uncover Genetic Basis of Very Early Onset Inflammatory Bowel Disease

Published on
Apr 3, 2019
in Cornerstone Blog
VEO-IBD
Marcella Devoto, PhD; Judith Kelsen, MD; and colleagues are using technologies like whole exome sequencing to uncover the genetic basis of very early onset inflammatory bowel disease.

Research Heroes: Drew Norton and Family Drive Leukodystrophy Research Forward

Published on
May 31, 2018
in Cornerstone Blog
Drew Norton
One year after Drew's leukodystrophy diagnosis at CHOP, the Norton family is having an "amazing run."

Is an Uncommon Genetic Mutation Linked to Vitamin D-dependent Rickets?

Published on
Mar 6, 2018
in Cornerstone Blog
vitamin D-dependent rickets
CHOP researchers led an international team who found a new clue to a rare, genetic form of vitamin D-dependent rickets.