In the News: Cancer Drug Approval, Chief of Infectious Diseases, Genetics and Obesity, Police Encounters and Autism, Rare Disease Q&A, Stress Resilience

Sep 6 2019

In the News: Cancer Drug Approval, Chief of Infectious Diseases, Genetics and Obesity, Police Encounters and Autism, Rare Disease Q&A, Stress Resilience

It’s time to say goodbye to summer and settle into days with a little more structure (and a little less humidity). It’s also Childhood Cancer Awareness month, a special time to raise awareness for pediatric cancer research and recognize the researchers who work toward discovering causes and developing treatments. In this week’s research news roundup, learn how scientists in our Cancer Center contributed to the approval of a new cancer drug to treat solid and brain tumors, join us in welcoming our new Chief of Infectious Diseases, learn about new discoveries into stress resilience, and more.

CHOP Researchers Ensure Cancer Drug Available to Children

The U.S. Food and Drug Administration (FDA) granted accelerated approval for a new drug, entrectinib, to treat adult and adolescent patients whose cancers have the specific genetic defect, NTRK (neurotrophic tyrosine receptor kinase) gene fusion, and for whom there are no effective treatments. The drug represents an important advance for patients with cancers with NTRK gene fusion, including those with brain and solid tumors, because it targets a genetic driver of cancer rather than a specific tumor type. Garrett Brodeur, MD, director of the Cancer Predisposition Program at CHOP, and Elizabeth Fox, MD, attending physician and head of Developmental Therapeutics at CHOP, played key roles in ensuring the FDA’s approval of entrectinib included pediatric patients 12 years and older. Drs. Brodeur and Fox conducted pre-clinical and clinical trials of entrectinib respectively, and data from the clinical trial supported the FDA’s approval.

Learn more in this news brief.

Welcoming our New Chief of Infectious Diseases

Audrey Odom John, MD, PhD, a renowned malaria researcher and physician-scientist, joined CHOP in August as our new Chief of the Division of Infectious Diseases. Dr. Odom is an accomplished scientist with a particular focus on a microscopic parasite called Plasmodium falciparum, which causes the infectious disease malaria. She currently studies its metabolism to identify novel targets for drug development and noninvasive diagnostic approaches.

“I’m thrilled to be joining what I believe is the best pediatric infectious diseases division in the country, and, with a passion for discovery and science, I hope to build on its strengths,” stated Dr. John in a press release. “I share CHOP’s vision of innovation and hope my work will translate into improved care for our patients, as well as help stem pediatric infections worldwide.”

In the words of Joseph St. Geme, MD, Physician-in-Chief at CHOP, Dr. John has “earned a reputation as a talented clinician, bold and creative investigator, and dedicated teacher and mentor.” Welcome to CHOP, Dr. John!

Learn more in the press release.

CHOP Scientists Co-Lead Largest Genetic Study Associated with Childhood Obesity

An international team of researchers in the Early Growth Genetics (EGG) Consortium conducted the largest trans-ethnic genetic study associated with childhood obesity to date. Co-led by Struan F.A. Grant, PhD, director of the Center for Spatial and Functional Genomics (CSFG), the researchers performed a meta-analysis of 30 genome-wide association studies from individuals of European, African, North and South American, and East Asian ancestry. They also conducted a replication study of a subset of samples from European and North/South American cohorts. The study team discovered a robust new signal, fine-mapped previously reported genetic variants, and contributed evidence that genetic influences on obesity operate across the lifespan. Their results appeared in Human Molecular Genetics.

“As we continue to deepen our research into the genetics of obesity, this knowledge is bringing us closer to pinpointing specific causal genes and how they function in giving rise to obesity,” Dr. Grant stated in the press release. “That detailed knowledge will help guide researchers toward developing more effective treatments.”

Hakon Hakonarson, MD, PhD, director of the Center for Applied Genomics at CHOP, who was one of the study’s co-investigators added, “Obesity is becoming such an alarming health problem in children that we need to scale up translational efforts to develop innovative therapies.”

Read more in the press release.

Improving Police Encounters for Individuals With ASD

In a recent video, 6ABC featured an innovative virtual reality study from our Center for Autism Research and the Philadelphia Police that aims to foster safer, effective interactions between police and individuals with autism spectrum disorder(ASD). The study enlists the help an immersive viewing/education system that simulates a police interaction for study participants using virtual reality. The training offers participants experience in handling difficult encounters by prompting them to give appropriate verbal responses to questions from a police officer.

“A virtual interaction is a really useful tool because people on the spectrum need more practice than other people, and police officers are not readily available to handle that,” said Joseph McCleery, PhD, assistant professor of Psychology and researchers at CAR, in a Philadelphia Inquirer article that also details the study. For the study, participants either receive lessons through the immersive viewing/education system or more conventional video and verbal instructions, with all participants practicing with a real police officer afterward.

Watch the video and learn more on 6ABC.

Maurizio Pacifici, PhD, Q&A With International Fibrodysplasia Ossificans Progressiva Association

When our scientists aren’t working in their labs or offices, you might find them talking enthusiastically about their research with the world, just as Maurizio Pacifici, PhD, director of Orthopaedic Research at CHOP, did in a Q&A with the International Fibrodysplasia Ossificans Progressiva Association (IFOPA). Dr. Pacifici described his lab’s current research into FOP, a rare pediatric, congenital, extremely severe musculoskeletal disorder, and what he anticipates for the next five to 10 years of FOP research. Dr. Pacifici also discussed what precipitated his interest in working toward treatments and a cure for rare disorders like FOP, and how his passion for helping families continues to drive his work.

“Undoubtedly, meeting patients and their families has propelled my efforts to work on FOP and find a treatment,” stated Dr. Pacifici in the IFOPA Q&A. “It’s both humbling and painful to meet patients and not be able to conclusively reassure them that things will be fine and treatments are on their way. … When I first learned about FOP years ago, it immediately became my mission to contribute to FOP research and identify a treatment. I remain determined to bring this goal to full fruition.”

Read the full Q&A on ifopa.org.

CHOP Scientists Find Receptor Protein in Brain Promotes Stress Resilience

CHOP researchers reported in Nature Communications the discovery of a receptor on the surface of brain cells that plays an important role in regulating how animals and people respond to stress. In humans, the receptor may also be a key biomarker of post-traumatic stress disorder (PTSD).

Focusing on a lipid molecule called sphingosine-1-phosphate receptor 3 (S1PR3), the research team observed the stress response of rats during behavioral tests. They found higher levels of the S1PR3 protein in resilient rats and lower levels in the vulnerable group, with stress-resilient behaviors increasing as they adjusted expression of the S1PR3 gene and vice versa.

The team also measured S1PR3 levels in the blood of patients at the Veterans Affairs Hospital who had experienced combat. Those with PTSD showed lower levels of S1PR3 than those without PTSD, and those with more severe PTSD symptoms showed lower levels of S1PR3. The findings suggest that the receptor may offer a new target for future, more effective treatments for stress and anxiety.

“We have found that a specific cell receptor promotes resilience to the adverse effects of stress in animals,” said Seema Bhatnagar, PhD, a neuroscientist in the Department of Anesthesiology and Critical Care at CHOP and the study’s leader. “Because we found links to the same receptor in patients with PTSD, we may have insights into developing more effective treatments for human psychiatric disorders.”

Learn more in the press release.

ICYMI

Catch up on our headlines from our Aug. 23 edition of In the News:

  • Physician Endorsed ‘Birds and the Bees’ Parent-teen Talk may Prove Effective
  • One and Done: Ultrasound-guided Intravenous Line Placement
  • First CHOPS Syndrome Symposium Held in Philadelphia
  • Researchers Test Social Media-based Parenting Program for Moms with Postpartum Depression
  • Disparities in Bystander CPR revealed in CHOP-led Research

That’s it for this briefing! Keep up with our news, stories, and updates in real time by following us on Twitter, Facebook, LinkedIn, or Instagram. Or subscribe to our newsletter to get an email sent every other Friday by signing up for Cornerstone, or via the box on the upper right of this page.