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Triple-Threat Cancer Gene, Autism and Faces

Published on February 5, 2016 in Cornerstone Blog · Last updated 6 months ago


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Cancer genetics and collaboration were big themes in this week’s news featuring research at The Children’s Hospital of Philadelphia. Check out our weekly summary of some of the developments this first week of February.  

Triple-Threat Fused Gene Found Driving Pediatric Brain Tumors

An international team has discovered an abnormal fused gene that drives pediatric brain tumors and poses a triple threat, operating simultaneously through three distinct biological mechanisms — the first such example in cancer biology.

“The gene rearrangement we investigated offers a great candidate for a precision medicine approach in improving treatment for children with this type of brain tumor,” said Adam Resnick, PhD, a neuro-oncology researcher in the division of Neurosurgery at CHOP, who co-led the study published this week in Nature Genetics. “Our research exemplifies the transformative power of large multi-institutional research collaborations in sharing and empowering data from new diagnostic technologies.”

Payal Jain, a University of Pennsylvania graduate student working with the CHOP team, was co-first author with a research collaborator at the Dana-Farber Cancer Institute. Dr. Resnick’s co-study leaders were Keith Ligon, MD, PhD, and Rameen Beroukhim, MD, PhD, both of Dana-Farber, with co-authors from nearly 20 centers in five countries.

Read more about the MYB-QKI fusion gene discovery in the CHOP press release.

Data Driven Discovery

Dr. Resnick was also in the news this week discussing the new center he is co-leading at CHOP with Phillip “Jay” Storm, MD, aiming to empower more collaborative discoveries. (Dr. Storm was also a co-author on the gene fusion paper in Nature Genetics.)

In a Q&A with GenomeWeb, Dr. Resnick discussed the Center for Data Driven Discovery in Biomedicine (D3B) and some of its goals in further detail. He discussed the center’s plans to develop better infrastructure for sharing and integrating data from existing pediatric cancer consortia, “not only to empower data that CHOP is involved in generating, but then to provide the public space to analyze and work on that data together.”

Dr. Resnick described additional initiatives at the center, including a data-wrangling initiative to build a cloud-based source for pediatric genomic data in partnership with industry partners and consortia, as well as biospecimen repositories and shared data visualization and integration opportunities.

Read more on GenomeWeb.

When a Child’s Cancer Exposes Family Risk

Although adults who are stricken with cancer may develop the disease based on decades of accumulated genetic abnormalities, in many cases resulting from smoking, poor diet, and other environmental contributors, a feature article in Science this week noted that, when it comes to children with cancer, the causes are more perplexing.

“Up until five or six years ago, many, many people thought [such cancers] were just mistakes of nature,” John Maris, MD, a pediatric oncologist at CHOP, said in the article. But, more recently, Dr. Maris and others in the field are being vindicated in their belief that inherited mutations play a significant role as well.

Read the full article for a deeper discussion of how such genetic discoveries are affecting research into childhood cancers, as well as how this new knowledge impacts families of children with cancer. This innovative clinical trial for neuroblastoma, on which Dr. Maris is co-investigator, dynamically matches combinations of drugs to patients based on the particular genetic profile of their tumors at the time they are being treated for relapsed or refractory disease.

Hyundai Hope On Wheels Awards $1 Million Grant to CHOP

“In an effort to make an even greater impact in the field, we launched the Hyundai Quantum Grant to support transformational research on cancers with low survival rates,” announced Scott Stark, Hyundai Hope On Wheels® board chairman, in a press release Thursday. “One more child dying of cancer is one too many. This is a fight we're on a mission to win.”

A long-time supporter of pediatric cancer research at CHOP, Hyundai Hope on Wheels is the nonprofit organization of Hyundai Motor America. CHOP is one of four winning Children’s Oncology Group institutions to each receive a $1 million Hyundai Quantum Grant. Over the course of the four-year award, Richard Aplenc, MD, PhD, MSCE, a CHOP pediatric oncologist and Hematologic Malignancies section chief, will aim to improve immune therapies for children with acute myeloid leukemia.

Read more about CHOP recipients of Hope On Wheels research grants from 2015 and 2014.

A Spectrum of Attention to Faces in Autism

“The connection between attention to faces and face processing skill held regardless of whether or not the participant had autism,” said Julia Parish-Morris, PhD, a postdoctoral researcher at the Center for Autism Research (CAR) at CHOP. “This suggests that face processing is truly dimensional and linked to underlying differences in social attention or motivation.”

Dr. Parish-Morris co-led a group of CAR scientists whose study supports the idea that these differences between children on the autism spectrum and typically developing children are spread across a wide dimension of levels of motivation and attention. A popular theory of autism suggests that while these differences might start small, they could have a snowball effect on face processing skill over developmental time, leading to more distinct differences in ability between children across that spectrum.

Read more about the study.