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: Genomics
The Human Genome Project’s successful completion 15 years ago gave us a new genomic lens to read our 20,000 or so protein-coding genes. Since then, a surge in next-generation sequencing technologies is generating new insights daily that sharpen our view of how the human genome works.
Yi Xing, PhD, was on the cusp of this revolution in medicine as he finished his PhD training in molecular biology and bioinformatics at University of California Los Angeles (UCLA). His research career began to rise during the incredible takeoff of big data science, and he became a prominent scientist in this cutting-edge field. The immense challenges of synthesizing diverse data sets from many sources come with vast opportunities to change pediatric medicine, which is why Dr. Xing is eager to assume his new role as the inaugural director of the Center for Computational and Genomic Medicine at Children’s Hospital of Philadelphia.
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.
Hematologists have grappled for many years to understand the basic mechanisms underlying why some young patients with the inherited bleeding disorder hemophilia A develop inhibitory antibodies, also known as factor VIII (FVIII) inhibitors, to protein replacement therapy. The presence of FVIII inhibitors is a serious obstacle that makes it difficult and extremely expensive to treat their hemophilia, leads to complications such as joint disease, and increases mortality.
Such a major challenge requires major brain power. So the National Institutes of Health called on the scientific community to reframe the question: Why is FVIII so immunogenic?
With the rate of inflammatory bowel disease (IBD) continuing to rise, especially in the hard-the-treat population of young children, the timing couldn’t be better for the Children’s Hospital of Philadelphia’s “Personalized IBD and VEO-IBD: Genomics, Microbiome, Biologics, and Beyond” symposium.
This symposium was of particular interest because of the unique combination of the latest research developments with the most up to date advances in clinical care for very-early-onset inflammatory bowel disease (VEO-IBD) and pediatric IBD, said course Co-director Judith R. Kelsen, MD, director of CHOP’s Very Early Onset Inflammatory Bowel Disease Clinic.
The Symposium on Advances in Genomics, Epidemiology and Statistics (SAGES) has a winning formula for success: Bring together an interdisciplinary group of scientists who are all working toward the same goal of understanding the genetic basis of human disorders. Close to 200 SAGES attendees gathered June 1 at the Smilow Center for Translational Research for a dynamic opportunity to explore a wealth of ideas and make connections with colleagues from diverse areas of expertise.
Along with the first day of spring (though the weather here doesn’t look quite like it just yet), the month of March marks National Nutrition Month — a great time to learn about how research is informing the impact of a healthy diet and lifestyle. This week’s roundup of Children’s Hospital of Philadelphia research headlines includes a recent study from the Division of Gastroenterology, Hepatology, and Nutrition at CHOP along with a handful of fascinating scientific discoveries that tell us new things about pediatric health across the lifespan (and across the skeleton, as you’ll see). Read on for summaries of the latest research from our investigators — from bone health to neurology to mitochondrial medicine and beyond.
Over the last week, we have gotten to know the newest scholars in the Postdoctoral Fellowship for Academic Diversity at Children’s Hospital of Philadelphia, a program designed to strengthen the Research Institute’s diverse population of postdoctoral investigators. Every year, new researchers join the program and contribute their unique perspectives to various fields of pediatric science, from genomics to neurobiology.
Training the next generation of investigators has long been a priority at Children’s Hospital of Philadelphia. There are numerous opportunities throughout the year to celebrate the accomplishments of our trainees and honor their commitment to science.
This week’s In the News roundup takes science at The Children’s Hospital of Philadelphia to new elevations, including a stellar donation by the Eagles Charitable Foundation to support autism research. (Go Birds!)