Adolescents and young adults with a history of cancer may seem prepared to handle anything that comes their way and want to move on with their lives. Unfortunately, too often what gets left behind is cancer survivors’ commitment to engaging in long-term follow-up care. As their recommended annual appointment rolls around, they may not be motivated to take it seriously when they’re asymptomatic and feeling fine.
Harnessing the power of big data and machine learning as a digital crystal ball, 2019 Research Scientific Symposium Keynote Speaker Olga Troyanskaya, PhD, showed the audience how her lab is delving into biochemical activity in the vast non-coding regions of the genome to make predictions about genetic variants’ causal connections to rare diseases and complex common disorders.
A professor at the Lewis-Sigler Institute for Integrative Genomics and the Department of Computer Science at Princeton University, Dr. Troyanskaya wants to find the meaning in the mountain of information genomic databases have compiled in recent years. While each single-nucleotide variant associated with a disease is a stepping stone, she encouraged researchers to reach a greater understanding of specific variants’ function, their effects on gene expression, and how they may influence disease risk and pathophysiology.
By Barbara Drosey
You’re a renowned pediatric plastic surgeon with a novel idea: a noninvasive solution to correct infant ear deformities that can save a child from potential self-esteem and functional issues. After creating a simple prototype of a molding device, you know you’re on the right track, but what are the next steps to ensure this solution reaches the right patients?
By Nancy McCann
Happy unofficial start to summer 2019! If you find yourself looking for something good to read on the beach, in the backyard, or floating on a boat, here you go. Discover which Children’s Hospital of Philadelphia docs and researchers have been in the news recently. We’re covering the risk of repeat concussions, a best method to screen for food insecurity, and a newly discovered causative gene for severe childhood epilepsy.
By Jillian Rose Lim, Barbara Drosey, Sharlene George, and Nancy McCann
Researchers exchanged big ideas about big data at the 2019 Scientific Symposium, an event that brought together the bright minds of our Children’s Hospital of Philadelphia research community. A lineup of thought-provoking speakers from CHOP and the University of Pennsylvania shared presentations corresponding with the symposium’s themes, “Big Data” and “Today’s Discoveries and Tomorrow’s Possibilities.”
“The goal [of this symposium] is to highlight the tremendous advances by CHOP investigators in the booming fields of computational biology, data science, and genomics,” said Yi Xing, PhD, chair of the event and director of the Center for Computational and Genomic Medicine at CHOP.
By Jillian Rose Lim
The 2019 Scientific Symposium, held today, May 22, celebrates the Research Institute’s remarkable scientific community: a diverse group of thought leaders, innovators, experts, and early career scientists committed to advancing children’s health. Within this community, faculty mentors play an important role in shaping our culture of research excellence by sharing their wisdom and guidance. The Children’s Hospital of Philadelphia Faculty Mentor Award, which was presented at this morning’s symposium, is a special honor given to faculty investigators whose mentoring has helped their colleagues become the next generation of brilliant researchers at CHOP.
An international research team conducted a large study and learned that genetic factors from both mothers and babies interact to influence birth weight. The researchers identified 190 genetic signals from variants affecting birth weight, of which 129 signals were new discoveries. The researchers also demonstrated that some of the mother’s genes were not inherited by the baby, but they did influence the baby’s uterine environment during pregnancy.
In this week’s news roundup, a Children's Hospital of Philadelphia researcher is recognized for her work to improve clinical effectiveness for children with endocrine-related diseases, and Center for Autism scientists present findings to the international autism research community.
Other highlights include an investigation of the effects of the microbiome on the brain that could lead to novel treatments for psychiatric conditions, a look into Google searches as a mechanism to offer more tailored support and education to families with children newly diagnosed with cancer, and a funding boost for telehealth research. In addition, the CHOP-based Pennsylvania Pediatric Medical Device Consortium announced its latest seed grants to support the creation and development of medical devices designed for children.
The soggy start to last year’s inaugural Eagles Autism Challenge didn’t keep more than 3,000 cyclists, runners, and walkers from joining the cause to raise funds for innovative research and programs to learn more about autism spectrum disorder (ASD). If participants minded the rain, you couldn’t tell from the smiling faces peeking from under hoods and hats.
The Challenge raised $2.5 million to address the complexities of autism through collaborative research among founding beneficiary partners Children’s Hospital of Philadelphia, Drexel University, and Thomas Jefferson University and Jefferson Health. These organizations aim to share their discoveries to advance autism research in Philadelphia and around the world.
by Nancy McCann
Editor’s Note: This occasional blog series features stories of CHOP research heroes who have participated in clinical research studies. Without the generosity and dedication of families, patients, and members of the public who take the time to be a part of research, many trials would not succeed.
The alarm rings annoyingly loud at 6:30 a.m. Megan Payne knows she must rise with that blaring beep, or else the day goes haywire. With five young children to monitor, mornings are a blur of making breakfasts, packing lunches, brushing hair, and searching for lost homework before four kids leave the house at different times to board different buses to attend different schools. Only her youngest, 3-year-old Jaxson, remains behind. Oh, and Megan works three jobs and is a college student studying Environmental Science. Whew.