As promised, here is PBS’s Religion and Ethics Newsweekly’s piece on the work of Drs. Ian D. Krantz and Nancy B. Spinner. Enjoy!
Stay tuned! The work of married CHOP geneticists Ian D. Krantz, MD, and Nancy B. Spinner, PhD, will be featured on PBS’s Religion & Ethics Newsweekly this Friday, January 25. The program will air online ahead of its being shown on television.
A recent genomic study of neuroblastoma reinforces the challenges of treating the most aggressive forms of this disease. Contrary to expectations, the researchers found relatively few recurrent gene mutations — mutations that would suggest new targets for neuroblastoma treatment. Instead, the investigators have refocused on how neuroblastoma tumors evolve in response to medicine and other factors.
It’s Cellie! To be more specific, it’s the Cellie Cancer Coping Kit, a tool designed by Children’s Hospital of Philadelphia researchers to help children and their families manage the physical and emotional challenges associated with cancer treatment. In addition to Cellie, the namesake plush toy — or critter, as some of the researchers who work with Cellie call it — the kit also includes a pack of “cancer coping cards” and a booklet for caregivers.
A new study verifies the long-controversial belief that a few children, in exceptional cases, can “recover” from autism. The study, which included CHOP’s Center for Autism Research, is the first solid science to confirm that, however rarely, with the help of behavioral therapy some children can make such great improvements that they no longer qualify as having autism.
The Children’s Hospital of Philadelphia Research Institute is a big place, with a staff in the thousands working every day to improve the health of children. As such, CHOP Research is the source of a lot of big stories, about big advances against big diseases. But CHOP Research is also a place where individuals quietly work on their own to better children’s lives, often volunteering their time.
Genetics researchers at The Children’s Hospital of Philadelphia have found 25 “high impact” gene variants that occur in some patients with autism. Although rare individually, each genetic variant has a strong effect in raising a person’s autism risk. These findings could be incorporated into clinical tests for evaluating children for autism spectrum disorders.
By underscoring the importance of standardized childhood developmental screening and communication between clinicians and caregivers, two new studies from CHOP’s PolicyLab can help physicians and families better support children with developmental disorders.
The Children’s Hospital of Philadelphia and China-based BGI-Shenzhen are now collaborating on research into next-generation sequencing to analyze pediatric brain tumors.
CHOP’s Center for Autism Research produced a number of breakthrough studies in 2012, two of which were recently highlighted by the scientific community. The advocacy organization Autism Speaks selected a Center for Autism Research study as one of its top discoveries of 2012, while another study, published in Trends in Cognitive Science, was one of the five most popular articles published in that journal in 2012.