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?
Tag Archive: rare disease
When most of us think about cancer, a number of factors — from smoking, to sun exposure, to specific organs where a disorder develops — might jump to mind. But for Adam Resnick, PhD, co-founder of the Center for Data Driven Discovery and Biomedicine (D3B) at CHOP, in order to unravel the inextricable link between childhood cancer and other rare conditions, we must visualize pediatric cancer as a process.
As a single-cell zygote proliferates into a 37 trillion-cell being, something happens in the course of its development — a dysfunction, a deviance, a DNA-driven decision — that underpins not just the development of life-changing birth defects, but a potential vulnerability to childhood cancer as well.
Elizabeth Bhoj, MD, PhD, modestly admits she had a May that most physicians dream of. The clinician-researcher in the at the Children’s Hospital of Philadelphia capped off the month by earning three major distinctions: the William K. Bowes Jr. Award in Medical Genetics, the Burroughs Wellcome Fund’s Career Awards for Medical Scientists with a $700,000 prize, and the Society for Pediatric Research’s (SPR) Physician Scientist Award.
Editor’s Note: Families facing a rare disease diagnosis often do not know where to turn first in their search for the most advanced treatments and potentially a cure for their children. Only 5 percent of rare diseases have a treatment approved by the Food and Drug Administration, according to the National Organization for Rare Disorders. This is due in part to the lack of high quality biospecimens for research.
The year 2017 might be coming to a close, but research continues to ramp up at Children’s Hospital of Philadelphia, with exciting developments in the fields of brain science, hemophilia, gene therapy, and more. In this week’s roundup of headlines, we take a look at remarkable reports from CHOP and Penn Medicine about the brain’s ability to reorganize itself after limb amputation, the first U.S. effort to observe the use of medical cannabis for children with autism, and exciting innovations to improve sickle cell disease treatment presented at the 59th American Society of Hematology Annual Meeting and Exposition. Read on to discover more about these brilliant breakthroughs.
National Childhood Cancer Awareness Month is coming to a close, but new research endeavors are continuing the momentum and driving toward better treatment options.
Synapses were firing throughout the conference room in the Colket Translational Research Building as attendees at the 2017 Research Institute Scientific Symposium held May 2 learned about their colleagues’ intriguing research endeavors.
Researchers from the Center for Applied Genomics at The Children’s Hospital of Philadelphia investigating a serious, rare disease called common variable immunodeficiency have discovered a gene linked to immune defense.
A device created by a CHOP expert is changing the lives of children with a debilitating rare disease, offering hope of drastically improved outcomes.
As rare pediatric diseases go, Fibrodysplasia Ossificans Progressiva (FOP) is about as rare and debilitating as they come, affecting roughly one in two million people around the world.