Inventive researchers like Gil Binenbaum, MD, MSCE, an attending surgeon in the Division of Ophthalmology at CHOP, look at children’s health problems through different perspectives. His recent work has yielded new insights about retinopathy of prematurity (ROP), a blinding disease of the developing retinal blood vessels in premature babies, and also earned him recognition as recipient of the 2017 Young Investigator Award from the American Association for Pediatric Ophthalmology and Strabismus (AAPOS).

In 2012, Dr. Binenbaum became principal investigator of the Postnatal Growth and ROP (G-ROP) Study Group, a large-scale, multicenter project funded by the National Institutes of Health and headquartered at CHOP. The group, which now spans 41 institutions in the U.S. and Canada, has produced the largest detailed ROP dataset ever created.

G-ROP, which has published research findings in journals such as JAMA Ophthalmology, aims to address a large concern in current ROP screening: Many infants are examined, but only a small percentage actually require treatment.

“There are many babies getting exams; those exams can be stressful for the baby, and they are resource-intensive,” said Dr. Binenbaum, who was named the Richard Shafritz Endowed Chair of Ophthalmology Research at CHOP and also is an associate professor of ophthalmology at the Perelman School of Medicine. “We’re quite good at identifying who to treat, but less than 5 percent of those examined actually need to be treated. We’re trying to come up with a better way to decide who to examine — a better way to screen.”

The G-ROP study group developed new evidence-based birth weight, gestational age, and weight gain ROP screening criteria that can reduce the number of infants examined by one-third. Dr. Binenbaum presented these new screening criteria in 2017 at the AAPOS annual meeting where he received the Young Investigator Award.

Gene therapy expert Beverly Davidson, PhD, director of the Raymond G. Perelman Center for Cellular and Molecular Therapeutics and Chief Scientific Strategy Officer of CHOP Research Institute, joined today’s most innovative thinkers as a newly elected member of the American Academy of Arts and Sciences. The Academy is one of the nation’s oldest and most prestigious honorary societies that champions research and analysis in science and technology.

Dr. Davidson, who holds the Arthur V. Meigs Chair in Pediatrics at CHOP and also is a professor of Pathology and Laboratory Medicine at the University of Pennsylvania, studies the cell biology and biochemistry of inherited genetic diseases that attack the central nervous system (CNS), such as Batten disease and similar diseases called lysosomal storage disorders. In these disorders, the lack of an enzyme impairs lysosomes, proteins that perform crucial roles in removing unwanted byproducts of cellular metabolism. Toxic waste products then accumulate in the brain and cause progressively severe brain damage. Dr. Davidson’s laboratory team has developed novel vector systems to reverse these neurological deficits and improve lifespan by delivering therapeutic genes to the CNS.

In addition to lysosomal storage disorders, Dr. Davidson focuses on other inherited neurological diseases such as Huntington’s disease and spino-cerebellar ataxia. In these studies, she has delivered forms of RNA to animals’ brains to silence the activity of disease-causing genes.

Dr. Davidson also wants to better understand how changes in the transcriptome — a collection of all the gene readouts (transcripts) present in a cell — influence neural development and neurodegenerative disease processes. This work is revealing new pathways of pathogenesis and novel targets for therapy.

Advanced information technology is rebooting how patients, physicians, and researchers connect with each other, and Bimal Desai, MD, assistant vice president and chief of Health Informatics at CHOP, is always a few keystrokes ahead to ensure that our dynamic healthcare delivery environment is implemented effectively. That’s why the Philadelphia Alliance for Capital and Technologies awarded Dr. Desai with the Healthcare Innovator Award, an honor that recognizes a company, researcher, or investor whose innovative solutions positively impact quality, cost, and access to healthcare.

Dr. Desai helped develop CHOP’s new Digital Health Program, which leverages technology to transform and augment how pediatric healthcare is delivered. It’s based on a four-pronged approach:

• Care Anywhere: Using the tools and modalities that patients and families prefer, in order to go beyond healthcare’s traditional walls, such as telemedicine visits for routine care and remote monitoring of chronically ill children.
• Engage and Connect: Partnering with patients and families to identify ways that digital information can make the healthcare experience less cumbersome and confusing.
• Research Excellence: Extending the reach and impact of the world-class researchers at CHOP by improving cohort identification, enhancing research enrollment, and creating new methods for data collection.
• Enhanced Partnerships: Allowing clinicians to access patient information across organizations.

Dr. Desai also co-founded Haystack Informatics, a company that protects patient privacy by tracking patient’s electronic health records along with healthcare employees’ patterns of behavior. In our 2014 Research Institute Annual Report, we covered the company’s early development of sophisticated algorithms to more rapidly identify patient data breaches.

Dr. Desai holds appointments on the faculties of both the Perelman School of Medicine and the Institute for Biomedical Informatics at the University of Pennsylvania.

Cell biologist Michael Marks, PhD, is still curious about the biology of lysosome-related organelles, even after devoting two decades to establish how melanosomes are assembled within cells. His research has revealed how this building process goes awry in patients who have a rare genetic disease called Hermansky-Pudlak syndrome (HPS). Dr. Marks’ perseverance and dedication earned him the esteemed recognition of Fellow by his peers in the American Association for the Advancement of Science, the world’s largest general scientific society, including nearly 250 affiliated societies and academies of science.

People with HPS have problems with blood clotting and abnormally light coloring of skin, hair, and eyes, with consequent poor vision and susceptibility to skin cancer. Some forms of HPS also cause scar tissue formation in the lungs, called pulmonary fibrosis, which leads to breathing problems that can contribute to individuals’ shortened lifespans of about 40 to 50 years.

The 10 genes that go awry in HPS encode subunits of four protein complexes that function in a loop between early endosomes and melanosomes to deliver cargo to and from these maturing organelles.

“Knowing more about how they actually function will perhaps allow us to generate some kind of drugs to fix the basic problems these kids have,” Dr. Marks said. “It would be a big deal if we could find a way to prolong their lives.”

Dr. Marks also is a professor in the department of Pathology and Lab Medicine, and the department of Physiology at the Perelman School of Medicine at the University of Pennsylvania.

Christina Master, MD, a sports medicine pediatrician at CHOP, never stays in neutral when it comes to advancing brain injury research. At the 26^th Annual Meeting of the American Medical Society of Sports Medicine, she received the “Best Overall Research Award” for her work, “The Use of Functional Near-Infrared Spectroscopy (fNIRS) for Assessing Cognitive Workload After Concussion.”

Currently, physicians do not have reliable, objective biomarkers to identify the pathophysiologic changes associated with concussion. Dr. Master’s studies provide preliminary evidence that suggests fNIRS, a noninvasive and portable neuroimaging modality that detects blood oxygenation changes in tissues using near-infrared light, can quantify changes in neuronal activity and cognitive workload after injury and during recovery.

Dr. Master is a world traveler, and her research program is always on the go as well. She helped to develop the Concussion Care for Kids: Minds Matter program at CHOP, a program designed to help parents, coaches, and school staff recognize the signs of concussion in children and teens. Dr. Master also recently presented at the Pediatric Academic Societies Meeting on policies that guide the participation of adolescents in organized sports. She leads several other research projects aimed at reducing the incidence and impact of concussions.

Babies have a lot to tell researchers, and Barbara Medoff-Cooper, RN, PhD, a professor of Nursing at the University of Pennsylvania School of Nursing and Ruth M. Colket Professor in Pediatric Nursing (Emeritus) at CHOP, has been listening to their babbles, cries, and coos since the mid-1970s. For her novel insights into infant development, the Eastern Nursing Research Society awarded Dr. Medoff-Cooper its Distinguished Contributions to Nursing Research Award for 2017.

The award is in recognition of sustained and outstanding contributions to nursing research by a senior investigator. Dr. Medoff-Cooper studies infants’ feeding behaviors, neurobehavioral development, and neonatal intensive care, among many other things. She is well-known for developing the globally used Early Infancy Temperament Questionnaire, an assessment that helps to treat difficult infants under 4 months old, and the NeoNur, a feeding device that allows physicians to detect developmental problems based on how an infant feeds. As part of her recent research, Dr. Medoff-Cooper reported that feeding issues in 3-month-old infants with congenital heart defects are associated with poor neurological development at 6 and 12 months.

“It is a great honor to be recognized by the Nursing research community,” Dr. Medoff-Cooper stated in a press release. “My goal, and of course my passion, has always been to improve outcomes for vulnerable infants and their families.”

When it comes to treating sick infants, nothing but the most rigorous, evidence-based research should support every decision a clinician makes. In 2017, the American Academy of Pediatrics (AAP) Section on Perinatal Pediatrics honored Barbara Schmidt, MD, attending neonatologist at CHOP, and director of Clinical Research, Neonatology at Penn Medicine, with the William A. Silverman Lectureship Award for her contributions to evidence-based neonatal research.

Dr. Schmidt is the lead investigator of the International Trial of Caffeine for Apnea of Prematurity and a host of other collaborations and clinical trials in newborns. While all awards are an honor, Dr. Schmidt admits this one has a special significance to her.

“I was particularly happy about this [lectureship] because of my strong belief in evidence-based medicine, and my passion for trying to resolve uncertainty in our management of babies, slowly but surely,” Dr. Schmidt said. “I also found it a major responsibility to do justice to Dr. Silverman.”

As a postgraduate student at McMaster University in Canada, Dr. Schmidt met William A. Silverman, MD, for the first time. Known as the father of neonatal intensive care, Dr. Silverman had given a talk that inspired Dr. Schmidt in its rigorous and questioning approach to newborn research and care. Fast-forward to May 2017, and Dr. Schmidt’s lecture titled “Progress in a Groove?” presented at the AAP Presidential Plenary Sessions during the annual Pediatric Academic Societies Meeting explored whether neonatal clinical research has improved since Dr. Silverman’s critique of perinatal medicine.

Read a Q&A on Cornerstone about why the William A. Silverman Lectureship Award means so much to her and what she hopes to see in the future of both neonatology and neonatal research. 

Better beginnings for babies and the mothers who care for them is the focus of the Breastfeeding and Lactation Program at CHOP led by Diane Spatz, PhD, an internationally known expert in the field who received the Lifetime Achievement in Neonatal Nursing Award from the National Association of Neonatal Nurses.

As a researcher and the Helen M. Shearer Term Chair in Nutrition and professor of Perinatal Nursing at the University of Pennsylvania’s School of Nursing, Dr. Spatz over the last two decades has published numerous studies on breastfeeding and medically fragile infants. Her findings have contributed to CHOP’s development of a state-of-the-art Human Milk Management Center and a new on-site human milk bank for hospitalized infants. She continues to pioneer studies of the largely unknown world of human milk science.

In 2017, Dr. Spatz also joined the Congressional Task Force on Research Specific to Pregnant and Lactating Women. One of the few nurses selected to participate on the Task Force, Dr. Spatz will help to fill the gaps in knowledge and research about safe therapies for pregnant and breastfeeding mothers. The Task Force is part of the 21st Century Cures Act and includes leaders from the National Institutes of Health, the Office of Women’s Health, and the Centers for Disease Control and Prevention.

At the first task force meeting held at the NIH Aug. 21 and 22, Dr. Spatz highlighted the need for all women to have access to evidence-based information about medications during breastfeeding and pregnancy, as well as the important role nurses play in delivering accurate information to mothers.

“The lack of consistent evidence-based information on the safety of medications for pregnant women and mothers who are breastfeeding negatively impacts mothers every day,” Dr. Spatz said. “This congressional task force is a historic opportunity to improve the care of women and infants in the United States as well as globally.”

For over 20 years, David Spiegel, MD, a pediatric orthopaedic surgeon at CHOP, has been practicing humanitarian work in Nepal, Iraq and other underserved regions, bringing his expertise in pediatric orthopaedics to children around the world. He is a strong advocate for essential surgical services in low and middle-income countries. And he is a researcher who investigates how delayed diagnosis and treatment of childhood musculoskeletal disorders in countries with limited resources can complicate management options and decrease long-term quality of life.

In honor of Dr. Spiegel’s far-reaching charitable work, the American Academy of Orthopaedic Surgeons recognized him with the 2017 AAOS Humanitarian Award.

Dr. Spiegel has visited Nepal 20 times, developing a very close relationship with Dr. Ashok Banskota and his team at the Hospital and Rehabilitation Centre for Disabled Children (HRDC), including a six-month visit in 2004 during the height of the Nepalese Civil War, when he introduced the Ponseti method for clubfoot treatment. The hospital has subsequently treated more than 4,000 feet throughout the years by using this technique. He also volunteered after the earthquake in April 2015. In addition to his work in Nepal, he served as an honorary professor at the University of Basra in Iraq, where he has made a two-week visit yearly since 2011. He is also working with colleagues in Pakistan to develop a pediatric musculoskeletal trauma course, and has worked with the World Health Organization (WHO) on their essential surgery program, mostly as a volunteer but also on several occasions as a consultant in Mongolia and Somalia.

“It has been a privilege to serve, and to continue to serve, those who desperately require assistance,” Dr. Spiegel said. “I have always believed that the greatest value lies in the transfer of contextually relevant knowledge and skills. If I feel that if I’m able to teach and transfer even a granule of knowledge, then my efforts were a success.” 

In addition to his work abroad, Dr. Spiegel is an associate professor of Orthopaedic Surgery at the Perelman School of Medicine at the University of Pennsylvania.

The accolades kept coming in 2017 for world-renowned mitochondrial medicine pioneer Douglas Wallace, PhD, founder and director of the Center for Mitochondrial and Epigenomic Medicine at CHOP. Dr. Wallace earned two highly esteemed international awards for the extraordinary innovation, courage, and creativity that he has dedicated throughout his career to introducing a new bioenergetics perspective to the biomedical community.

During the 1970s, Dr. Wallace defined the genetics of the DNA located in the mitochondria, the “power plants” of the cell, including demonstrating that human mitochondrial DNA is exclusively maternally inherited. Applying this fact to the study of human evolution, Dr. Wallace reconstructed the origins and ancient migrations of humans out of Africa and around the world.

Analysis of mitochondrial DNA genetics and application of its principles to an array of patients led Dr. Wallace to show that mitochondrial DNA variation contributes to a wide range of rare and common metabolic and degenerative diseases, as well as cancer and aging.

At an award ceremony and dinner held in May at The Franklin Institute in Philadelphia, Dr. Wallace received the 2017 Benjamin Franklin Medal in Life Science. In September, Dr. Wallace traveled to Belgium to receive another prestigious honor, the Dr. Paul Janssen Award for Biomedical Research, also in recognition of his unwavering commitment to bring forward new research.

“It is my hope that this validation will encourage innovative young physicians and scientists to apply the principles of mitochondrial genetics and bioenergetics to the pressing clinical problems that threaten global health,” Dr. Wallace said. “Such efforts promise to have a profound effect on the well-being of all peoples.”

Dr. Wallace also is a professor in the department of Pathology and Laboratory Medicine at the Hospital of the University of Pennsylvania. Read our Q&A with Dr. Wallace in Bench to Bedside.

The three winners of the Award for Excellence in Mentoring Research Trainees exemplify a unique mentoring style, an established history of guidance, and an influence that goes above and beyond just helping their mentee pick a research project. Former and current trainees nominated these outstanding faculty members for the 2017 award: Daniel Licht, MD, pediatric neurologist; Matthew Weitzman, PhD, associate professor of Pathology; and Joanne Wood, MD, attending physician and research director of Safe Space: the Center for Child Protection and Health at CHOP.

In their reactions to the award, the winners — as all great mentors do — turned their focus toward the research trainees who nominated them.

Dr. Licht shared his own enthusiasm as a mentor: “I have been ridiculously fortunate to have all these wonderful people find their way to my lab,” he said. “I don’t really know how it’s all happened, but there has been almost a parade of really bright, inquisitive and hard-working students and fellows.”

Dr. Weitzman called the Award a tremendous honor: “I have been very fortunate to attract a great group of enthusiastic and dedicated young scientists and clinicians to my lab,” he said. “It has been a lot of fun to bring them together to form a collaborative group and watch them flourish. One of the most rewarding parts of my job is to engage and inspire trainees. We have formed a very interactive group, where everyone contributes to making new discoveries. Helping trainees grow scientifically and personally has been very fulfilling for me.”

Dr. Wood credits her passion for mentoring to her own experience as a trainee: “During the past 15 years I have benefitted from the generosity of talented mentors who have selflessly shared their time, knowledge, and experiences with me,” she said. “The incredible mentorship provided by senior faculty members is the reason I chose to come to CHOP for my training 15 years ago and the reason I have never left. Now as a junior faculty member I have the privilege and pleasure of working with talented trainees. I try to share some of what I learned from my mentors with my mentees. I am incredibly touched and humbled by this recognition.”

In his more than 30 years of research and caring for hundreds of patients, today pediatric oncologist John M. Maris, MD, is known around the world for unearthing the genetic architecture of neuroblastoma and developing targeted treatments for children with cancer.

His unwavering dedication and innovation led the National Cancer Institute to honor him in October 2017 with their prestigious Outstanding Investigator Award, an accolade that supports accomplished leaders in oncology research who make significant contributions toward the understanding and treatment of cancer.

Over the last decade, the Maris Lab has pioneered discovery after discovery regarding the genetics that make an individual susceptible to neuroblastoma, as well as the mechanisms that lead to the formation of neuroblastoma tumors. Dr. Maris, who is also a professor of Pediatrics at the Perelman School of Medicine and holds the Giulio D’Angelo Chair in Neuroblastoma Research at CHOP, continues to lead innovative research addressing the most startling paradoxes about pediatric cancer.

“It is my career goal to fundamentally change the way that we cure childhood cancer,” Dr. Maris said, and that is evident not only with the work in his laboratory but also with his leadership position with organizations such as Stand Up to Cancer (SU2C)-St. Baldrick’s Foundation Pediatric Cancer Dream Team, a research effort focused on immunogenomics and developing new immunotherapies for high-risk childhood cancers.

With the support of the NCI Outstanding Investigator Award, Dr. Maris plans to carry out a multidisciplinary and collaborative research program with the goal of improving cure rates for pediatric patients with neuroblastoma. His lab will uncover the fundamental mechanisms that orchestrate the development of neuroblastoma and translate those discoveries into personalized, patient-specific therapies that are more effective and less toxic than current treatments.

After decades of impactful work in the field of pediatric injury research, Flaura Winston, MD, PhD, is bringing her expertise to the National Academy of Medicine as one of 80 new physician members elected in 2017.

Founder and scientific director of the Center for Injury Research Prevention (CIRP) at CHOP, Dr. Winston is an inspirational pediatrician, engineer, and public health advocate whose research-action-impact approach to improving teen driving and child passenger safety has led to numerous breakthroughs and innovations. In 1997, Dr. Winston founded the Partners for Child Passenger Safety Program, a decade-long partnership with State Farm Insurance that reduced the number of car crash injuries in children.

Recently, Dr. Winston and her team of researchers developed Diagnostic Driving, a startup company that provides a virtual driving assessment to universities, corporate fleets, and driver licensing centers — a program already in use at centers in Ohio. Dr. Winston’s expertise extends to her work as a professor of Pediatrics at the University of Pennsylvania, an associate editor of Injury Prevention, the director of the National Science Foundation’s Center for Child Injury Prevention Studies, and more outlets that include U.S. federal advisory panels.

“I am deeply honored to be included among the members of the National Academy of Medicine and am humbled by the many partners who applied my team’s research to innovations that achieved reductions in traffic crashes and injuries,” Dr. Winston said. “I hope to bring this research-action-impact approach to deliberations at the National Academies to help accelerate benefit from research discoveries and technology, to narrow the chasm between discovery and value. I want to see scientific engineering breakthroughs, big and small, become life-saving discoveries, especially for children and youth.”

Immunodeficiency diseases include over 300 rare chronic disorders in which an individual’s immune system does not function properly. Every year, the Immune Deficiency Foundation (IDF) recognizes members of the scientific medical community for their contributions toward diagnosis and care of patients with immunodeficiency diseases through the Boyle Scientific Achievement Award.

In October 2017, Kathleen Sullivan, MD, chief of the Division of Allergy and Immunology, was named one recipient of the 2017 Boyle Award. Dr. Sullivan, who also holds the Frank R. Wallace Endowed Chair in Infectious Diseases at CHOP, has made tremendous strides in immunodeficiency research with her investigations into common variable immunodeficiency, chromosome 22a11.2 deletion syndrome, and her work to define the role of epigenetics in inflammation.

“The Boyle Award is the highest honor in the field of primary immune deficiency, and I was thrilled to be recognized,” Dr. Sullivan said.

The American Heart Association honored Vinay Nadkarni, MD, with their 2017 Award for Lifetime Achievement in Cardiac Resuscitation Science at its annual Resuscitation Science Symposium held in Anaheim, Calif. The AHA awards the honor every year to scientists who have made outstanding contributions in cardiac and trauma science.

A critical care physician at CHOP as well as medical and research director of our Center for Simulation, Advanced Education, and Innovation, Dr. Nadkarni’s work in clinical, laboratory, and simulation-based research is paving the way for next-generation resuscitation care.

Dr. Nadkarni has worked extensively with the American Heart Association over the years, has conducted a number of collaborative multi-center National Institutes of Health research studies, and was the founding pediatric member of the AHA’s National Registry of Cardiopulmonary Resuscitation. An initiative to collect resuscitation data from hospitals across the nation and create evidence-based guidelines for inpatient CPR, the registry formed the foundation for the AHA’s collaborative “Get With the Guidelines-Resuscitation” program.

A passion for puzzles and problem solving fuels the devotion Dimitri Monos, PhD, has for tackling some of the greatest challenges in immunogenetics — a dynamic field of science and medicine that explores the connections between the immune system and genetics.

Those same qualities are among the many reasons why the American Society of Histocompatibility and Immunogenetics (ASHI) honored Dr. Monos in September 2017 with its prestigious 2017 Distinguished Scientist Award. The annual award recognizes those who have made extraordinary scientific contributions in their field, which may also have broad clinical applications to autoimmune diseases, cancer, vaccine development, and pharmacogenomics.

Dr. Monos was honored for his research and expertise on histocompatibility molecules called human leukocyte antigens (HLA) and the genes that encode them, known as the major histocompatibility complex (MHC). Identifying key HLA alleles is critical for the success of bone marrow, blood stem cell, and solid organ transplantation. To help prevent what could be a catastrophic immune response by a recipient’s body to destroy foreign tissue, Dr. Monos’ lab performs precise HLA typing to ensure that antigens between the donor and recipient are as similar as possible.

“For me, this work is another extension of having fun,” said Dr. Monos, director of the Immunogenetics Laboratory in the department of Pathology and Laboratory Medicine that provides integral services to all of the transplantation programs at CHOP, along with supporting other clinical and research efforts.

During his Distinguished Scientist Award lecture at ASHI’s annual meeting, Dr. Monos discussed how next-generation sequencing technology provides an advanced tool that reveals uncharted and exciting directions in MHC research.