CHOP | GenomeWeb


Called the Roberts Collaborative for Genetics and Individualized Medicine, the program was established with a $25 million gift from Comcast CEO Brian Roberts and members of his family.

Scientists introduced an indel to a promoter region to mimic a benign, naturally-occurring mutation that activated fetal hemoglobin production.

The recommendations resulted from two meetings that brought together physicians, lab workers, researchers, genetic counselors, and patient families from the US and Canada.

Cavatica is a project of CHOP's Center for Data Driven Discovery in Biomedicine and is part of its commitment to the Precision Medicine Initiative.

Using genomic data for pediatric low-grade gliomas, researchers uncovered a MYB-QKI fusion that appears to drive angiocentric glioma development.

The Center for Data Driven Discovery in Biomedicine is a joint project of CHOP Research Institute and CHOP's Department of Biomedical Health and Informatics. 

The results showed that syndromic forms of autism are more likely when children have alterations of genes in the mGluR pathway.

Using genotyping data, the Children's Hospital of Philadelphia-led team found high heritability across pediatric-onset autoimmune diseases.

Through a meta-analysis of 10 pediatric-onset autoimmune diseases, Children's Hospital of Philadelphia researchers found 22 loci shared among the conditions.

The funding will support work identifying the mechanisms underlying the differential responses among pediatric and adult ALL patients to therapy.


National Cancer Institute researchers didn't report severe adverse events to Food and Drug Administration in a timely manner, the Wall Street Journal reports.

In PLOS this week: role for Notch signaling in congenital heart disease, sciatica risk variants, and more.

Researchers in China have used the CRISPR/Cas9 genome editing approach to alter the length of hair fibers in cashmere goats.

According to ScienceInsider, the Scripps Research Institute and the California Institute for Biomedical Research are merging.