Our Most Read Stories of 2017 Bring Back the Wonder of Childhood

It was a big year for children’s health: We celebrated the U.S. Food and Drug Administration’s approval of the world’s first chimeric antigen receptor (CAR)-T cell therapy this September, followed closely by approval of the very first gene therapy to treat inherited blindness this month — both of which have their roots at Children’s Hospital of Philadelphia and the University of Pennsylvania. But besides the big headline-making breakthroughs (brilliant as they are), we wanted to know what other stories captivated our readers in 2017. So, we peeked into our data, pulled the top five most read stories from Cornerstone along with the top five most read stories from Bench to Bedside, and were thrilled with the result. Here is a colorful list that shows our readers loved both the major scientific discoveries and stories on the smaller scale, too: Everyday stories about our patient heroes and our research mentors, our clinical coordinators and our families in the CHOP community. These stories bring back the wonder, curiosity, and spirit of discovery that we first felt in childhood — and we hope they do for you, too.

Autism’s Ancient Roots Revealed in Mitochondrial Research

History, science, and the origins of autism spectrum disorder (ASD) came together in our most popular Cornerstone story of the year, brought to us from the lab of Douglas Wallace, PhD, director of the Center for Mitochondrial and Epigenomic Medicine at CHOP. Building on his previous discovery almost 40 years ago that we inherit mitochondrial DNA (mtDNA) only through our mothers, Dr. Wallace and his team reconstructed the ancient migrations of women by comparing variations in mtDNA among populations throughout the world. The investigation, which covered mtDNA lineages from over 900 families from the Autism Genetic Resource Exchange, revealed patterns of functional mtDNA variants associated with ASD risk that emerged over human history. Turns out, the origins of ASD may point back to genetic vulnerabilities accumulated during ancient human migrations. The researchers published their findings in JAMA Psychiatry. We’re looking forward to future discoveries from Dr. Wallace and his colleagues as they continue their autism research with the support of a grant from the National Institute of Mental Health.

Read the full and fascinating story on Cornerstone.

24,000 Steps and Counting With a Clinical Research Coordinator

Research at CHOP simply would not be possible without our warm and wonderful staff — most especially the clinical research coordinators who guide our patients and families through clinical trials and research studies every day. We’re not surprised that one of our most popular Cornerstone stories this year followed Joshua Zigmont, RN, BSN, nurse research coordinator at CHOP (not to mention counselor, cameraman, and travel concierge), as he went about his work day with 10-year-old Jack, one of our many wonderful research volunteers, who is a fun-loving participant in a Duchenne muscular dystrophy drug trial. There is so much more to a clinical research coordinator than what’s on the job description — and having a familiar face to greet you at CHOP makes a world of difference for our research participants. Told from Joshua’s point of view, this story is one of our favorites, too!

Read about Joshua and Jack’s adventures on Cornerstone.

Cultivating Breakthroughs for Beckwith-Wiedemann Syndrome

Beckwith-Wiedemann Syndrome (BWS) is a rare overgrowth disorder involving genetic and epigenetic changes that occur approximately every one in 10,500 births. This year, CHOP hosted the very first Deciphering Beckwith-Wiedemann Syndrome conference, which gathered families, clinicians, genetic counselors, nurses, and researchers in a weekend-long event sponsored by CHOP, the University of Pennsylvania’s Orphan Disease Center, and Alex’s Lemonade Stand Foundation. The conference came with a heap of good news and announcements regarding our quest to research and treat BWS, from the creation of a new Program of Excellence to support BWS research within our CHOP and Penn communities to the continued growth and success of the BWS Registry coordinated by the team of Jennifer M. Kalish, MD, PhD, attending physician and geneticist at CHOP.

Read our coverage of the inaugural BWS Conference on Cornerstone.

Three CHOP Mentors Are Changing Research Trainee Lives

Behind every successful researcher is a solid mentor who gives out advice, experience, anecdotes, and … team T-shirts? Meet this year’s three winners of the Award for Excellence in Mentoring Research Trainees, an honor given by the CHOP Research Trainee Advisory Committee to faculty mentors: Daniel Licht, MD, pediatric neurologist; Matthew D. Weitzman, PhD, associate professor of Pathology; and Joanne N. Wood, MD, attending physician and research director of Safe Space: the Center for Child Protection and Health at CHOP. Our story profiling these three wonderful faculty members who were nominated by their mentees ranked in the top five most read stories on Cornerstone, and we’re willing to bet that their popularity and reputation with mentees, colleagues, and our readers had something to do with that!

Read our profiles of Drs. Licht, Weitzman, and Wood on Cornerstone.

Our First Research Hero Fights for Rett Research and Awareness

This year, we were thrilled to launch Research Heroes, an ongoing Cornerstone series that profiles a child, teen, or family who has participated in a CHOP research study or clinical trial, and has helped to advance our knowledge of various pediatric conditions. Our very first Research Hero, 6-year old Brynn, captured the attention of our readers in one of our most read and shared stories of the year. Brynn has Rett Syndrome, a rare neurodevelopmental disorder that disrupts a child’s communication, coordination, muscle control, and growth over time. In the story, Kristen and Shawn Connor shared why they chose to enroll Brynn in CHOP’s Rett Natural History Study and other clinical trials. “If we all stick together and keep the research going, we can beat this disease,” Kristen said. “Our ultimate goal is to cure Rett, and as more families get involved in the research, funding, and awareness, we can obtain that goal even faster.” We loved sharing Brynn’s story, and our readers did too!

Read the story on Cornerstone.

Researchers Recreate Life in the Womb

An extra-uterine system that mimics life in the womb fascinated both the mainstream media and scientific communities earlier this year. And not surprisingly, our own in-depth coverage of the breakthrough ranked as the most read Bench to Bedside story of 2017. Going behind the scenes of the research investigations led by Alan W. Flake, MD, fetal surgeon at CHOP, we took a deep dive into how Dr. Flake and his team of researchers developed the fluid-filled environment over the last four years, going from initial prototypes to the current preclinical model: a sealed, sterile, fluid-filled container custom-made to fit each fetus and insulated from fluctuations in temperature, pressure, light, and hazardous infections. In a landmark Nature Communications study, the research team showed that the system supported eight fetal lambs for as long as 28 days, keeping them healthy as indicated by vital signs, blood flow, fetal blood gases, and other parameters monitored 24 hours a day.

Identifying Early Signs of Autism in Babies

It was a breakthrough year for autism, as investigators at our Center for Autism Research began to unravel the mysteries of how the brain develops differently in children with autism — well before any behavioral symptoms begin to appear. Until recently, researchers have only studied brain size in children and adults after the onset of external manifestations like difficulties in social interaction, verbal and nonverbal communication, repetitive behaviors, and restricted interests. In one of our biggest Bench to Bedside stories of 2017, we featured a novel study published in Nature that details the discovery of a brain biomarker that could help identify children with ASD earlier in life with the help of a computer-generated algorithm. The breakthrough finding could allow clinicians to identify which children could benefit from early intervention, and, as Robert T. Schultz, PhD, director of CAR and leader of the CHOP study site, puts it, “set the stage to dramatically improve long-term outcomes.”

Scientists Explore Ways to Suppress Cytokine Storm Syndrome

In our very first Bench to Bedside issue of 2017, we told the story of novel research conducted by Edward M. Behrens, MD, chief of the division of Rheumatology at CHOP, into cytokine storm syndrome: a life-threatening condition that occurs when over activation of the immune system produces too many inflammatory molecules (also known as hypercytokinemia) that damage healthy organs. Cytokine storm syndrome sometimes appears in young patients with systemic juvenile idiopathic arthritis, an autoimmune disorder, and it can lead to multiorgan failure. Thus, finding a way to quell this overwhelming immune response is critical. In this story that ranked in the top five most read Bench to Bedside articles of 2017, Dr. Behrens describes his investigations into small signaling proteins in the IL-1 cytokine family that could be targeted as circuit breakers by drugs used to block the immune system’s reaction.

CHOP Scientists Give More Than Just a Name to New Genetic Disorder

Giving a name to a vague set of symptoms can change the lives of patients and their families, many of whom spend years going through a long list of tests and treatments to learn more about an unknown condition. Earlier this year, three scientists at CHOP put an end to those diagnostic odysseys for patients who have Mulchandani-Bhoj-Conlin Syndrome (MBCS): a newly classified genetic growth disorder named after the scientists themselves and identified in eight children, according to the Genetics in Medicine report. MBCS is characterized by mild prenatal growth deficiency, slow growth, and a lack of paternally inherited genes on chromosome 20. While this story is one of scientific discovery, it’s also one about family. “[The classification] relieves the guilt that’s put on parents for why they can’t appropriately feed their child,” said Elizabeth Bhoj, MD, PhD, clinician-researcher in the division of Human Genetics, and one of the three scientists who defined the syndrome. “[Feeding] is the most basic thing you do when you have a baby, and parents have a lot of emotional distress around not being able to have their children gain weight.”

CHOP Experts Talk About Health From a New Perspective

This past October, we brought you a story about the Center for Parent and Teen Communication (CPTC) at CHOP, a new initiative that doesn’t just transform the way we communicate our research to parents and colleagues, but the tone and tenor of how we talk about teen health, too. Co-led by two experts in the division of Adolescent Medicine at CHOP, the CPTC promotes the health, well-being, and character of adolescents through research, education, and advocacy with the support of a multi-disciplinary team of clinicians, researchers, and social media strategists. The CPTC aims to improve communication about teen health in two influential places: the web and the doctor’s office. What are we most excited about for the CPTC? According to Kenneth R. Ginsburg, MD, MSEd, physician in the division of Adolescent Medicine and co-founder of the CPTC, not a single piece of parent material from the new Center will start with the words “survival guide.”