Skip to main content
Premium Trial:

Request an Annual Quote

CHOP's Cheung First in Pediatric Genomics


Slowly but surely, genomics is working its way from the scientific periphery into everyday life. In yet another sign of this, the W.W. Smith Charitable Trust recently donated $1 million for an endowed chair in pediatric genomic research at the Children’s Hospital of Philadelphia.

Vivian Cheung is the first person appointed to the new position. Cheung, who has been at the hospital for four years, has expressed an interest in genomics since she was in medical school at Tufts University. For her, the appeal is in “integrating technology into medicine.”

One of Cheung’s goals for the hospital is to lead the way in genomics-based testing. “We’re hoping that if we can develop the tests we can take away some of the very expensive costs,” she says, noting that if the hospital waited for companies to make tests the prices would no doubt be much higher. As an example, she points to BAC clones — now available to researchers for 60 cents per clone, she contends that if companies had developed them instead they would be far more expensive.

Though this is the first chair of its kind at a pediatrics institution, Cheung isn’t surprised by the focus on children. Because most diseases caused by basic mutations hit very early on, pediatricians are often the ones faced with trying to understand or test for them. These are the doctors and researchers who could most benefit from improved testing. “The old technology limited us to looking at two genes at a time, three proteins at a time,” she says. “For the first time, genomics is offering us a method to look at a very wide-spectrum picture.”

The Scan

Genome Sequences Reveal Range Mutations in Induced Pluripotent Stem Cells

Researchers in Nature Genetics detect somatic mutation variation across iPSCs generated from blood or skin fibroblast cell sources, along with selection for BCOR gene mutations.

Researchers Reprogram Plant Roots With Synthetic Genetic Circuit Strategy

Root gene expression was altered with the help of genetic circuits built around a series of synthetic transcriptional regulators in the Nicotiana benthamiana plant in a Science paper.

Infectious Disease Tracking Study Compares Genome Sequencing Approaches

Researchers in BMC Genomics see advantages for capture-based Illumina sequencing and amplicon-based sequencing on the Nanopore instrument, depending on the situation or samples available.

LINE-1 Linked to Premature Aging Conditions

Researchers report in Science Translational Medicine that the accumulation of LINE-1 RNA contributes to premature aging conditions and that symptoms can be improved by targeting them.