Editor’s Note: Each year, 10,000 patients diagnosed with autism spectrum disorder (ASD) visit a wide range of clinical programs at Children’s Hospital of Philadelphia — including developmental pediatrics, child and adolescent psychiatry, neurology, psychology, speech and language therapy, clinical genetics, general pediatrics, and more. With this enormous patient base and broad sets of expertise across specialties, the Center for Autism Research (CAR) at CHOP offers a tremendous opportunity to conduct rigorous research with its ultimate aim being to improve care, quality of life and long-term outcomes for individuals with ASD.
Category Archive: Center for Applied Genomics
Leaders of the Lifespan Brain Institute (LiBI) brought together experts in child and adult psychiatry, and basic and translational science, to delve into the origins of mental illness, during the Institute’s first symposium, “Pathological Antecedents to Neuropsychiatric Disorders.” Throughout the day, 200 attendees learned about how the typical trajectory of brain development and function is derailed in psychiatric disorders at various points throughout life — perhaps as early as in the womb.
LiBI is uniquely positioned as a broad collaboration between Children’s Hospital of Philadelphia and the Perelman School of Medicine at the University of Pennsylvania that supports research across the fetal-adult continuum, which is a pillar of CHOP Research Institute’s strategic plan.
In the halls and history of Children’s Hospital of Philadelphia and its Research Institute, you don’t have to search far to find role models who thrive in science fields that have been, historically, underrepresented by women.
Researchers identified a genetic mutation in CYP3A4 that is linked to vitamin D-dependent rickets (VDDR), a childhood disorder associated with impaired growth and skeletal mineralization. Scientists already knew about two other genetic forms of VDDR, but this third kind is caused by a gain-in-function mutation — a random genetic change that confers a new function on a gene — that leads to accelerated inactivation of vitamin D metabolites. This is a new insight into vitamin D metabolism.
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.
Long before he entered medical school, John M. Maris, MD, pediatric oncologist and the recent recipient of the National Cancer Institute’s Outstanding Investigator Award, became captivated by the mysteries of neuroblastoma. A cancer of the peripheral (not brain) nervous system, neuroblastoma accounts for 7 percent of all childhood cancers and 15 percent of all childhood cancer deaths.
At Children’s Hospital of Philadelphia, we believe diversity drives breakthroughs. Our investigators come from a multitude of academic backgrounds and life experiences to form a rich research community that thrives on collaboration. In 2016, CHOP launched the Postdoctoral Research Fellowship for Academic Diversity in partnership with the University of Pennsylvania to enhance the recruitment of postdoctoral fellows from diverse populations. This year, three new CHOP diversity fellows began the program, each contributing their own unique experiences to various fields of pediatric study. In this Cornerstone Q&A series, we asked the new fellows what diversity in research means to them and what they hope to achieve while at CHOP.
This week, new research findings at Children’s Hospital of Philadelphia are propelling the way we think about autism, single ventricle survivors, and neuroblastoma forward, as our investigators continued to push the boundaries of what we know.
Differences in mitochondrial function are a major factor in understanding the origins of autism spectrum disorders (ASD), according to a new study led by Douglas Wallace, PhD, director of the Center for Mitochondrial and Epigenomic Medicine at Children’s Hospital of Philadelphia, that points way back to genetic vulnerabilities accumulated during ancient human migrations.
Welcome back to another weekly roundup of research news from the Children’s Hospital of Philadelphia! Exciting and important pediatric research spans everything from conditions that are common and treatable, such as ear infections, to others more rare and deadly, such as cancer.