Brain Cancer Gene Therapy, 2019 Eagles Autism Challenge, Mitochondrial DNA in Cardiomyopathy, Kids First DRC, Device Symposium

Fall weather and football season have returned to us here at Children’s Hospital of Philadelphia Research Institute, bringing with them a fresh batch of research headlines. In this edition of our biweekly news roundup, catch up on the latest announcements for the second annual Eagles Autism Challenge, learn about new insights into the role mitochondrial DNA plays in heart disease progression, and stay updated on how CHOP helps to drive medical innovation and entrepreneurship forward in the Philadelphia community and beyond.

Brain Cancer Gene Therapy Selected for Science Center QED program

The University Science Center has selected an innovative gene therapy for brain cancer developed by John M. Maris, MD, pediatric oncologist at CHOP, as one of 12 academic technologies to make the final round of its QED Program, a proof-of-concept life sciences program. The Science Center is a nonprofit organization that has supported innovations with the goal of moving them toward commercialization for over 50 years. The Center’s QED program, first established in 2009, partners with academic and research institutions to identify promising research and technologies which, according to the Center’s website, hold “clear product potential in life science and healthcare markets.”

After being selected by a team of 22 industry experts and investors, this year’s finalists were matched with business advisers who will help the scientists develop comprehensive proof-of-concept plans. Three of the 12 finalists will receive up to $200,000 each in 2019 to validate their proof-of-concept with funding contributed by the Science Center and the researcher’s own institution. Congratulations, Dr. Maris!

Read more about the QED Program and Dr. Maris’ research.

Second Eagles Autism Challenge Announced for May 2019

With football season in full swing, it was perfect timing for the Philadelphia Eagles to announce their second annual Eagles Autism Challenge will take place May 18, 2019 at Lincoln Financial Field. Earlier this year, the inaugural fun-filled cycling and 5K run/walk event raised over $2.5 million with the participation of over 3,300 bikers, runners, and walkers and the support of 24,700 donors. The funds benefitted cutting-edge autism spectrum disorder (ASD) research at our own Center for Autism Research, Drexel University, Thomas Jefferson University and Jefferson Health. We were excited to see CHOP research heroes like 19-year-old Ben Hartranft get involved to help drive ASD advances forward. As with last year, 100 percent of all money raised in this year’s event will go toward ASD research programs in Philadelphia. Fly, Eagles, Fly!

Learn more about the second annual Eagles Autism Challenge and the Center for Autism Research at CHOP.

New Study: Changes in mtDNA Control How nDNA Mutations Are Expressed in Heart Disease

A new study led by Douglas C. Wallace, PhD, director of our Center for Mitochondrial and Epigenomic Medicine, has found that in mice, the severity of heart disease caused by nuclear DNA mutations, such as cardiomyopathy, differed when a nuclear DNA (nDNA) mutation was combined with different variants of mitochondrial DNA (mtDNA). While one mtDNA variant worsened heart disease, another provided protection from heart damage. By better understanding how genetic variants interact, scientists come one step closer to improving diagnostics and treatments for patients with cardiomyopathy. As one of the leading causes of heart failure, cardiomyopathy is characterized by progressive weakening of the heart muscle and can either progress slowly or become severe.

“When people think of genetic changes, they most commonly consider mutations and variations in nuclear DNA — the familiar genes within cell nuclei,” said Dr. Wallace in a press release. “But the DNA within mitochondria may have a profound effect on disease symptoms, depending on how it interacts with nuclear DNA. This research delineates some of those processes in the development of cardiomyopathy.”

The findings provide evidence that studying mtDNA variations should be an important adjunct to studies of nDNA diseases and may help advance our development of new strategies to treat heart disease as well as other conditions affected by the way nuclear and mitochondrial genes interact, Dr. Wallace added. Cell Metabolism published the study.

Read more in the press release.

Gabriella Miller Kids First Data Resource Center Launches New Research Portal

The Gabriella Miller Kids First Data Resource Center (DRC), led by our own Center for Data-Driven Discovery and Biomedicine (D3b), launched their new childhood disease research portal — a project funded by the National Institutes of Health with the powerful potential to change how scientists around the world collaborate and conduct research. As of last week, researchers, families, and clinicians can now access a wealth of large-scale pediatric data about childhood cancer and birth defects through the cloud-based resource. With data from approximately 8,000 DNA and RNA samples from children affected with cancer or structural birth defects and their families — and with that number expected to grow to more than 30,000 over the next few years — the portal will be one of the largest collections of integrated genomic and clinical data for cancer and birth defects, two childhood diseases that have previously been largely studied apart from one another.

Alongside D3b, the Kids First DRC’s partners include the Department of Biomedical and Health Informatics at CHOP, Children’s National Health System, Ontario Institute for Cancer Research, Center for Data Intensive Science at the University of Chicago, Oregon Health and Science University, and Seven Bridges.

“The DRC’s Kids First research portal represents a data-driven discovery milestone for the implementation of tools and resources for performing biomedical research and for doing science collaboratively in entirely new and unprecedented ways in the hopes of accelerating discovery and clinical translation for each and every child suffering from cancer or a structural birth defect around the globe,” said Adam Resnick, PhD, lead principal investigator of the Kids First DRC and director of D3b at CHOP, in a press release.

Read more in the press release.

CHOP Hosts Pediatric Device Symposium Closing Events, Leads New 5-Year Grant to Support Innovation

As leaders in innovation that benefit children’s health, Children’s Hospital of Philadelphia Research Institute will hold the closing ceremony of the Sixth Annual Pediatric Device Innovation Symposium Sunday, Sept. 23, at the Colket Translational Research Center. The day-long symposium, hosted by the Sheikh Zayed Institute for Pediatric Surgical Innovation at Children’s National Health System, will take place at the Philadelphia Convention Center.

The symposium will feature keynote presentations, panel discussions, and the “Make Your Medical Device Pitch for Kids!” competition. Our own Matthew R. Maltese, PhD, research assistant professor in the Department of Anesthesiology & Critical Care Medicine, will sit on the judging panel. Dr. Maltese will help to select the winning pediatric cardiovascular devices out of 11 finalists. Addressing the critical need for cardiovascular devices made specifically for children, the winners of the pitch competition will receive financial support and advisory services to drive their innovation forward in the device development life cycle.

Dr. Maltese is also the principal investigator of a new five-year grant recently awarded from the U.S. Food and Drug Administration (FDA) to five Pediatric Device Consortia (PDC) sites across the country, totaling up to $6 million per year: As leader of one of these sites, the Pennsylvania Pediatric Medical Device Consortium (PPDC), Dr. Maltese will direct efforts to provide advice and support to innovators with the goal of enhancing the production and distribution of medical devices specifically for children.

Learn more about the “Make Your Medical Device Pitch for Kids!” competition and the Sixth Annual Pediatric Device Innovation Symposium.

ICYMI

Recently on Cornerstone, we sat down with David Rubin, MD, MSCE, co-founder and director of PolicyLab, to learn what attendees can expect at PolicyLab’s 10^thAnniversary Forum, shared a guest blog post from Stephanie Doupnik, MD, MSHP, co-director of the inpatient Medical Behavioral Unit at CHOP, in recognition of National Suicide Prevention Awareness Month, and learned about novel research into better understanding racial and ethnic disparities in acute myeloid leukemia.

Catch up on our headlines from our Sept.7 edition of In the News:

• CHOP Named One of 20 Most Innovative in Parents Magazine
• European Commission Approves Kymriah for Patients in Europe
• CHOP and Penn Study Finds Most Teens Avoid Impulsive Behavior

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