Mutations | CHOP Research Institute


Published on
Jul 5, 2023
A new deep sequencing method helps researchers identify and treat previously undetectable genetic mutations related to vascular anomalies.
Published on
Mar 23, 2023
Researchers in the Center for Computational and Genomic Medicine developed a new tool to read RNA more accurately.

The primary objective is to confirm the association of the Filament-Aggregating Protein loss-of-function mutations with respect to the severity of disease and its association with components of the atopic triad within our Atopic Dermatitis cohort.

Published on
Feb 12, 2019
A new model for genomic test interpretation and continuous reanalysis may enable faster, systematic, and more effective use of new discoveries.
Published on
Jan 30, 2019
Basic and bioinformatics scientists at CHOP and Penn are working hard to unravel how leukemia cells resist CAR T-cell therapy.

Dr. Lefebvre investigates the genetic mechanisms that generate the diversity of cell types composing the body. Her emphasis is on deciphering how proteins called SOX transcription factors specify stem cells and highly specialized cells in the skeleton, how changes in these factors cause skeletal diseases, and how these factors also control other processes, including brain development and intellectual disability diseases.

lefebvrev1 [at]
Published on
Jun 30, 2015
An international collaboration of researchers has identified several progressive series of mutations that occur in tumor cells responsible for aggressive subsets of neuroblastoma that relapse after chemotherapy.
Published on
Jan 16, 2015
The Children’s Hospital of Philadelphia Matthew D. Weitzman, PhD, is studying the relation of a family of enzymes to cancer.
Published on
Nov 26, 2014
An international team of gene experts has identified a mutation that causes aplastic anemia, a serious blood disorder in which the bone marrow fails to produce normal amounts of blood cells.
Published on
Nov 5, 2014
An international team of researchers recently identified gene mutations that can cause severe, difficult-to-treat forms of childhood epilepsy. Many of the mutations disrupt functioning in the synapse, the highly dynamic junction at which nerve cells communicate with one another.