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In the News: Gene Therapy Makes Headlines, Mitochondrial Medicine, Brain Injury Collaboration, Implicit Racial Bias Blog

Published on December 29, 2017 in Cornerstone Blog · Last Updated 2 months 1 week ago


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After a year of huge headlines for children’s health, we’ve finally arrived at our last roundup of Children’s Hospital of Philadelphia research news for 2017. The latest developments cap off a benchmark year of discovery, with new advances in treating childhood blindness, novel initiatives to study traumatic brain injury, and wonderful stories from a variety of media outlets that highlight the efforts and accomplishments of our Mitochondrial Medicine Frontier Program and The Raymond G. Perelman Center for Cellular and Molecular Therapeutics. We think this edition’s collection of news items herald exciting things to come in 2018!

Innovative Gene Therapy for Inherited Blindness Makes Headlines

December 19 marked a historic day in our quest to research and treat childhood blindness, as the U.S. Food and Drug Administration (FDA) approved a first-of-its-kind gene therapy to treat a rare and inherited form of retinal blindness. The FDA’s decision marked the first gene therapy approved to treat a genetic disease in the U.S. and comes after more than a decade of research conducted by CHOP, Penn Medicine, and Spark Therapeutics, a Philadelphia biotechnology company created by CHOP in 2013. The therapy, known as LUXTURNA™, garnered waves of attention from the mainstream media with headlines from the Wall Street Journal and NPR. The Washington Post reported the approval was a “historic move” that “signals a new era for gene therapy.” Most recently, the L.A. Times included news of the approval in their year-end roundup of “a remarkable year for science,” also citing the FDA’s approval of the CHOP and Penn-developed (CAR) T-cell therapy, Kymriah™, earlier this year. We are extremely proud of our investigators at CHOP and partnering institutions for this success. Check out media coverage of the breakthrough, along with our own blog post on Cornerstone.

Pennsylvania Gazette Features Mitochondrial Medicine Research

We were excited to find research from the Mitochondrial Medicine Center at CHOP — recently designated as a Frontier Program — and the hopeful story of Katherine Belle, a patient treated at the Center, featured in the Pennsylvania Gazette. The story describes Katherine’s experience as she came under the care of Marni Falk, MD, director of the Mitochondrial Medicine Frontier Program, for a genetic mutation implicated in a rare mitochondrial Complex I disorder. The article also details CHOP’s efforts to expand knowledge and treatments in the field of mitochondrial medicine both past and future, from Douglas Wallace, PhD’s discovery 30 years ago of the first mitochondrial genetic mutation causing human disease, to Dr. Falk and her team’s current efforts to partner with families and identify precision medicine for rare diseases. In our most recent issue of Bench to Bedside, we sat down with Dr. Falk and learned just how complex mitochondrial conditions can be, along with what the Mitochondrial Medicine Center hopes to achieve in the next few years.

Read the full story about Katherine Bell in the Pennsylvania Gazette, and find our coverage of the Mitochondrial Medicine Frontier Program on Bench to Bedside.

New Multi-Institute Collaboration to Study Traumatic Brain Injury

A $4 million research imitative funded by the Pennsylvania Department of Health and spanning four Pennsylvania institutions including CHOP will dig deep into the underlying biology of traumatic brain injury (TBI), a condition that affects thousands of children and youth every year in the form of concussions. Our own Christina Master, MD, sports medicine pediatrician, joins investigators from the University of Pennsylvania, the University of Pittsburgh, Cheyney University, and Moss Rehab in the collaboration led by Douglas Smith, MD, director of the Penn Center for Brain Injury and Repair. The consortium aims to help clinicians more precisely diagnose the types and severity of TBI cases by moving toward classification based on physical damage of the brain rather than just reports of symptoms. The researchers hope to identify underlying biological commonalities in patients who have sustained brain injuries, evaluate tests for identifying physical causes, and map out potential recovery paths for a spectrum of brain injury cases. News of the collaboration was featured on

Learn more about the new Pennsylvania-based consortium in the press release.

New Blog Post Shares Research Findings on Implicit Racial Bias

Tiffani J. Johnson, MD, attending physician in the department of Emergency Medicine, penned a new “Research in Action” blog post for the Center for Injury Research and Prevention that describes in detail her leadership of a research team dedicated to improving the equity of care for children in the emergency department. The team plans to better understand the type and source of disparities in care, and then aims to develop effective interventions to reduce inequalities. In our September issue of Bench to Bedside, we featured Dr. Johnson’s pioneering research into physicians’ implicit racial bias — an unconscious bias that, despite the best of intentions, can affect how a physician in the emergency department might treat a child of a particular race or ethnicity. In the new blog post, Dr. Johnson goes on to describe the next steps in her current investigations.

“We plan to build on our findings by investigating the impact that this implicit racial bias against black children has on disparities in pediatric healthcare,” wrote Dr. Johnson in the post. “Educating healthcare providers and trainees about their unconscious attitudes is an important first step to help reduce the impact of bias on the clinical encounter. I am therefore working with CHOP’s pediatric residency program leadership to help develop a curriculum focused on recognizing and combating implicit biases.”

Read more of Dr. Johnson’s blog post, and check out our coverage of her research on Bench to Bedside.


Recently on Cornerstone, we shared how one CHOP Research staff member used a CHOP Community Cares Grant to tackle domestic violence in her community, blogged about the FDA’s approval of the first gene therapy approved to treat a genetic disease in the U.S., and celebrated our 10 most read stories from Cornerstone and Bench to Bedside in our annual year-end round up.

Catch up on our headlines from our Dec. 15 edition of In the News:

  • Brain Remaps Itself in Child With Double Hand Transplant
  • CHOP Researchers Study Medical Cannabis and Autism
  • Engineered Stem Cells Could Facilitate Safer Blood Transfusions for Sickle Cell Disease
  • One-Time Gene Therapy Safely Stops Bleeding in Hemophilia B Patients
  • Dr. Can Ficicioglu Appointed to Pennsylvania Rare Diseases Advisory Council

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