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New Era of Genetics, Grant Awards, Texting Cancer Survivors, Baby Teeth and Autism

Published on September 30, 2016 in Cornerstone Blog · Last updated 6 months ago


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A new month is about to begin, so it seems fitting that this week’s research highlights have lots of “new” initiatives that we’re excited to report. A new Collaborative will broaden the scope of genetics medicine at The Children’s Hospital of Philadelphia. Three new grants will help CHOP researchers make advances in pediatric cancer. A study is taking a new mHealth approach by using text messages to help cancer survivors stay healthy. And a new national consortium is looking at the chemical composition of lost baby teeth for clues to possible autism risk factors.

New Roberts Collaborative for Genetics and Individualized Medicine Launches

The creation of the new Roberts Collaborative for Genetics and Individualized Medicine at CHOP announced at a special scientific symposium hosted at the Research Institute brought together scientists and philanthropists who are at the forefront of pediatrics genetics research.

The Roberts family, founders of Comcast Corp., gave a $25 million gift that will help researchers to find the genetic makeup of complex childhood diseases, create tools to diagnose those diseases, and test new therapies.

“We are extremely grateful to the Roberts family for this remarkable gift, which will help the Children’s Hospital of Philadelphia usher in a new era of genetics and broaden the scope of genetic medicine across all clinical areas of the hospital,” said Madeline Bell, president and CEO of CHOP. “Research is core to CHOP’s mission, and growing CHOP’s Research Institute is fundamental to our strategy and commitment to breakthroughs.”

Eight CHOP experts spoke at the symposium about their commitment to individualized medicine and how the new Collaborative will accelerate their research efforts in inherited disorders, mitochondrial disease, cancer, autism, and many other fields. Another guest speaker, Laine Moseley, shared her family’s experience in searching for a diagnosis for their medically fragile daughter, Leta, and how CHOP’s geneticists used a breakthrough in sophisticated gene-sequencing technology to identify the genetic basis for her unique constellation of symptoms.

“My family has traveled a medically and emotionally challenging road of raising our daughter all these years without a diagnosis,” Laine Moseley told the audience. “But today, because of the availability of advanced genetic testing, so many families’ lives will be dramatically different than ours.”

Learn more in the CHOP press release and news article. Read about Leta Moseley and the discovery of CHOPS Syndrome.

Research Grants Awarded During Childhood Cancer Awareness Month

Although Childhood Cancer Awareness Month is coming to an end, our researchers are continuing their hard work with the support of three new research grants announced this week.

A huge thank you goes to Hyundai Hope on Wheels and Philadelphia-area Hyundai dealers for presenting Michael D. Hogarty, MD, professor of Pediatrics, Division of Oncology at CHOP with a $250,000 Scholar Grant to be used to improve care and increase treatment options for kids with cancer. CHOP was one of 24 recipients across the country selected by a rigorous scientific review panel to receive this highly competitive Hyundai Scholar Grant.

Learn more in this press release.

We also deeply appreciate Alex’s Lemonade Stand Foundation (ALSF) for awarding Dr. Hogarty and CHOP pediatric oncologist John Maris, MD, Reach Grants, which provide critical funding to propel childhood cancer research from the lab toward clinical trial. Each will receive a total of $250,000 over the course of two years. Dr. Hogarty will study a new drug in combination with chemotherapy and immunotherapy to treat neuroblastoma. Dr. Maris will study a new targeted radiation therapy for children with relapsed neuroblastoma.

ALSF also awarded a 2016 Epidemiology Grant to Alix Seif, MD, MPH, an attending physician in both the Blood and Marrow Transplantation and the Hematologic Malignancies sections at CHOP. The Epidemiology Grant, worth $200,000 over the course of two years, provides critical funding to shed light on basic epidemiological characteristics of childhood cancer that are not yet understood.

Dr. Seif will study whether children with leukemia who develop severe infections are less likely to relapse than children without infections. Results from the study would support developing clinical trials of immune stimulating drugs, which would offer new options to children who currently have no available immune therapy.

Learn more in the ALSF Epidemiology Grant press release and Reach Grants press release.

Researcher Studies How Texting Can Help Cancer Survivors

Young adults who are cancers survivors face a unique set of challenges, and CHOP Cancer Center psychologist Lisa Schwartz, PhD, wants to help teens navigate them as they get back to normal life. In a blog post featured by St. Baldrick’s Foundation, Dr. Schwartz discussed her research project that is looking at whether text messages sent through a special app can help cancer survivors live healthy, balanced lives.

“The text messages really aim to give them messages about ways they can control their health, convey the importance of follow-up appointments, and improve health behaviors,” Dr. Schwartz said. “Then there are also messages about normalizing the struggles and giving them pointers on life after cancer, so things like managing getting back into school and anxiety about going back to the doctor.”

Read more about this intervention in the St. Baldrick’s blog post. And learn about the mHealth Research Affinity Group that Dr. Schwartz co-chairs at the Research Institute.

Baby Teeth May Offer Clues to Chemical Risks Associated With Autism

The Center for Autism Research (CAR) at CHOP is among 10 centers that will take part in the first large-scale effort to determine whether prenatal exposure to specific chemicals plays a role in putting a child at risk for autism, according to a press release. In this national consortium, the researchers will examine the chemical composition of lost baby teeth from infants who go on to develop autism. Researchers suspect that one way chemical exposures might affect brain development is by interfering with normal gene function, so examining the interaction among these three factors is extremely important.

The study will involve infants with older siblings who were diagnosed with autism spectrum disorder because these “baby sibs” have a 20-fold greater risk of developing autism than children in the general population. CAR has been studying baby sibs for the past decade and has developed considerable expertise in the area of early risk factors.

“By joining our existing baby siblings research program with this national consortium, we will be able to establish the largest sample of high-risk children to ever be evaluated for environmental exposures and gene and environment interactions, ” said Robert Schultz,  PhD, the lead investigator for the CHOP site and director of CAR. The study will have a grand total of 1,713 baby sibling participants.  “This is a monumental endeavor that would not be possible without pooling efforts and collaborating with colleagues across the nation, including colleagues at the A.J. Drexel Autism Institute, with whom we have worked closely since we founded CAR in 2008.”

Learn more in the press release.


In case you missed it earlier this week on Cornerstone, we interviewed James Guevara, MD, MPH, a pediatrician at CHOP and leader of a new study that will examine the effects of an early literacy promotion program. “With all of the new knowledge on neuroscience and brain connections particularly in the newborn period, we’re looking at whether we can further improve language development by starting book reading in the newborn period,” Dr. Guevara said.

Last week’s In the News post shared the excitement when The National Academy of Television Arts & Sciences awarded an Emmy to PBS for the acclaimed documentary, “Twice Born — Stories From the Special Delivery Unit,” which features CHOP’s Center for Fetal Diagnosis and Treatment and its unique Garbose Family Special Delivery Unit. Other news highlights came from the Cancer Moonshot initiative, a precision medicine approach to epilepsy, and development of a mobile app to monitor concussion recovery in youth.

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