Krantz is the principal investigator (PI) of the project at The Children's Hospital of Philadelphia, along with co-PI Nancy B. Spinner, Ph.D., director of the Clinical Cytogenomics Laboratory at Children's Hospital. Both researchers also are faculty members at the Perelman School of Medicine of the University of Pennsylvania, which is partnering with Children's Hospital on three projects comprising the grant.
In addition to pinpointing gene variations that are the likely causes of a condition for which a patient is being studied, say the researchers, whole-genome sequencing will also uncover so-called "incidental findings." These findings are gene variants not related to a current condition, but having a bearing on an individual's future health. "We will investigate which of these incidental findings should be disclosed to a patient's family," said Spinner. "This is a complex issue that will benefit from the insights and contributions of the multidisciplinary team we have assembled for this program."
The first project under the grant, Clinical Genomics Studies, is co-led by Krantz and Spinner, and will enroll four cohorts of children in these disease groups: bilateral sensorineural hearing impairment, nuclear encoded mitochondrial respiratory chain disorders, sudden cardiac arrest and intellectual disability. "Each of these groups of disorders cannot be easily diagnosed with a gene-by-gene approach, so experts from several disciplines will develop tools for sequencing the patients' whole genomes and then interpreting the vast amounts of data," said Krantz. "Not all the gene mutations we find w
|Contact: John Ascenzi|
Children's Hospital of Philadelphia