Scientists are driving new discoveries about the role of genetic variation in specific human disorders at an exciting and unprecedented pace, and physicians are increasingly incorporating genetic tests into pediatric clinics as a diagnostic tool. But with high-throughput sequencing methods continuously yielding floods of new information, how can clinicians keep up with updated data for patients who have already received genetic test results?
This week, we highlight the results of innovation powered by collaboration, within Children’s Hospital of Philadelphia Research Institute and around the globe. A multicenter, international consortium revealed genes newly linked to epilepsy, while CHOP CEO Madeline Bell visited Dubai for an interchange of knowledge and technology at the largest medical conference in the world. Closer to home, the Children’s Hospitals’ Solutions for Patient Safety Network, comprised of 135 hospitals in the United States, published its findings on the most effective targets for pediatric patient safety research, and a high school intern helped researchers recruit participants for a teen driving study. Learn about the latest trends in pediatric opioid prescription, and get an update on the Delaney family, whose conjoined twin daughters were separated with painstaking care by a multidisciplinary team at CHOP.
Editor’s Note: This guest blog by Brian Jenssen, MD, MSHP, originally appeared on the PolicyLab website. Dr. Jenssen is a faculty member at PolicyLab, an assistant professor in the Department of Pediatrics at the University of Pennsylvania, a practicing primary care pediatrician at CHOP, and Medical Director of Value-Based Care for CHOP’s Care Network (a primary care network for 260,000 pediatric patients in Pennsylvania and New Jersey). His research involves the use of clinical decision support systems and population health management techniques to protect children from secondhand smoke exposure and tobacco use.
The human genome contains approximately 20,000 genes, and exome analysis focuses on about 7,000 genes known in medical literature to be clinically associated with a disease. Currently, up to 70 percent of exome test reports are negative or inconclusive. But suppose at a later date a researcher discovers a gene that could be causative of the disease?
Children’s Hospital of Philadelphia researchers led by Avni Santani, PhD, associate professor of Clinical Pathology, developed a useful tool for automated reanalysis that facilitates efficient reevaluation of nondiagnostic clinical exome sequencing (CES) samples using up-to-date literature published after the initial exome analysis was performed. They demonstrated this methodology enabled identification of novel diagnostic findings in almost 16 percent of previously nondiagnostic samples.
More than six years after Emily Whitehead became the first child to receive chimeric antigen receptor (CAR) T-cell therapy, doctors have had remarkable success in turning the immune systems of even more children with acute lymphoblastic leukemia (ALL) into top-notch fighters against the disease. For some patients, however, these superhero T-cells still fail in their mission to find and fight their cancer targets.
If you’re looking for a spark of inspiration during January’s long and sometimes dreary days, don’t miss this week’s roundup of headlines from in and around Children’s Hospital of Philadelphia Research Institute. Our scientists’ passionate work in the lab found a spotlight in the mainstream media as “TODAY” featured how our stem cell research can help today’s cancer survivors become tomorrow’s parents. Meanwhile, eye-opening findings from the Lifespan Brain Institute (LiBi) sparked a wider conversation about how pediatricians and parents can stay alert for suicidal thoughts in teens. In more news, a recent study highlighted the need for more antibiotic stewardship in non-children’s hospitals, while a successful device consortium based at CHOP officially became a statewide affair.
As teens transition to adulthood, being able to get around on their own is a big step toward independence, enabling opportunities for social activities, post-secondary education, and work.
But what about this rite of passage for adolescents on the autism spectrum? How does their experience differ from their peers? These are the types of questions Allison Curry, PhD, MPH, wants to answer with the help of a new grant to fund a groundbreaking project that has the potential to help change the lives of many teens and young adults with autism.
Looking into the eyes of a distressed parent, you want to be able to tell them you’re providing interventions that are based on good evidence for the care of their child. When a gap in knowledge prevents that clinical confidence, Martha Curley, RN, PhD, FAAN, pediatric critical care nurse and research scientist, is there to help find answers.
“The main reason I completed a PhD in nursing science was so I could ask and answer questions relevant to the patient population I cared for as a critical care nurse,” said Dr. Curley, professor of nursing and Ruth M. Colket Endowed Chair in Pediatric Nursing, Children’s Hospital of Philadelphia, and professor of anesthesia and critical care medicine, Perelman School of Medicine at the University of Pennsylvania.
Dealing with a mystery illness that doesn’t appear to match any conditions described in medical textbooks can entangle families on a diagnostic odyssey for years and even decades. Dozens of examinations, a barrage of tests, multiple misdiagnoses, and trips in and out of hospitals can leave them exhausted and no closer to knowing what is wrong with their child.
Those struggling to find a diagnosis can now turn to a new team of super sleuths from Children’s Hospital of Philadelphia and the Hospital of the University of Pennsylvania who are ready to unravel these perplexing diseases, in both children and adults. The two institutions received $2.5 million in research grants from the National Institutes of Health as a newly designated Undiagnosed Diseases Network (UDN) site.
Friedreich ataxia (FRDA) is a rare, progressive autosomal recessive neurodegenerative disease characterized by progressive gait and limb ataxia; cerebellar, pyramidal, and dorsal column involvement; visual defects; scoliosis; and cardiomyopathy. FRDA is caused by transcriptional silencing of the frataxin gene and consequential deficiency of frataxin, a mitochondrial protein crucial for iron–sulphur cluster biogenesis and adenosine triphosphate (ATP) production. ATP stores and transports chemical energy within cells. Currently, no therapy is available to slow down the progression of FRDA.