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Mutations

Can Deep Sequencing Cells Help Develop Targeted Therapies for Vascular Anomaly Patients?

Published on
Jul 5, 2023
in Cornerstone Blog
Can Deep Sequencing Cells Help Develop Targeted Therapies for Vascular Anomaly Patients?
A new deep sequencing method helps researchers identify and treat previously undetectable genetic mutations related to vascular anomalies.

Can a New Computational Tool Discover and Quantify RNA Molecules More Accurately?

Published on
Mar 23, 2023
in Cornerstone Blog
Snapshot Science: Can a New Tool Read RNA Molecules More Accurately?
Researchers in the Center for Computational and Genomic Medicine developed a new tool to read RNA more accurately.

FLG Mutations and Atopic Dermatitis

FLG Mutations and Atopic Dermatitis

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.

Informatics Driven Clinical Genomics: Q&A With Mahdi Sarmady, PhD

Published on
Feb 12, 2019
in Cornerstone Blog
Mahdi Sarmady, PhD
A new model for genomic test interpretation and continuous reanalysis may enable faster, systematic, and more effective use of new discoveries.

Borrowing a Weapon From Leukemia’s Arsenal to Develop New Immunotherapy Approaches

Published on
Jan 30, 2019
in Cornerstone Blog
Andrei Thomas-Tikhonenko
Basic and bioinformatics scientists at CHOP and Penn are working hard to unravel how leukemia cells resist CAR T-cell therapy.
Véronique Lefebvre, PhD
Véronique Lefebvre

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.

E-mail:
lefebvrev1 [at] chop.edu

Researchers Pinpoint Mutations in Relapsed Neuroblastoma

Published on
Jun 30, 2015
in Cornerstone Blog
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.

Translational Research Project Explores Enzymes' Cancer Role

Published on
Jan 16, 2015
in Cornerstone Blog
The Children’s Hospital of Philadelphia Matthew D. Weitzman, PhD, is studying the relation of a family of enzymes to cancer.

International Team Finds Blood Disorder Mutation

Published on
Nov 26, 2014
in Cornerstone Blog
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.

Collaborative International Study Finds Childhood Epilepsy Genes

Published on
Nov 5, 2014
in Cornerstone Blog
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.