N. Scott Adzick, MD, Surgeon-in-Chief and the founder and director of the Center for Fetal Diagnosis and Treatment at Children’s Hospital of Philadelphia, has dedicated his career to pursuing groundbreaking prenatal treatments to correct debilitating and life-threatening birth defects.

In recognition of his innovative accomplishments, Dr. Adzick received the Patient Impact Award at Life Sciences Pennsylvania’s, formerly Pennsylvania Bio’s, annual dinner in March.

“Congratulations to Dr. Adzick for this well-deserved award,” said Bryan Wolf, MD, PhD, Chief Scientific Officer and director of the CHOP Research Institute and a Life Sciences Pennsylvania board member. “He is relentless in his pursuit of perfection, passionate about treating our most fragile patients, visionary and innovative in the OR, a leader and builder of an exceptional multidisciplinary team, and a great colleague.”

Dr. Adzick led a research team funded by the National Institutes of Health that demonstrated surgically repairing spina bifida before birth resulted in significantly better outcomes for children than repairing it after birth.

“It is so rewarding to see patients, who before even being born received grave diagnoses, growing up healthy and strong,” said Dr. Adzick,  reflecting on the impact of 20 years of caring for patients at the Center for Fetal Diagnosis and Treatment, some of the earliest of whom have thrived and are reaching young adulthood.

In November, Dr. Adzick was also honored by Congenital Hyperinsulinism International with its “Be My Sugar” Award for Surgical Excellence. In 1999, Dr. Adzick helped world renowned HI pioneer, Dr. Charles Stanley, create the Congenital Hyperinsulinism Center at CHOP. The Center offers evaluation, diagnosis, treatment and follow-up care for children with HI, and is the largest and most active HI Center in the world.

To learn more about Dr. Adzick and the courageous families who come to the Center for Fetal Diagnosis and Treatment, see the PBS documentary series “Twice Born — Stories From the Special Delivery Unit,” that received an Emmy award in September from the National Academy of Television Arts & Sciences.

Paul Offit, MD, director of the Vaccine Education Center at Children’s Hospital of Philadelphia, celebrated in October the 10th anniversary of the rotavirus vaccine’s approval by the U.S. Food and Drug Administration. Dr. Offit co-invented the vaccine, which has dramatically reduced the incidence of the disease in the U.S. upon its inclusion in the recommended vaccine schedule for babies in 2006.

“Before rotavirus vaccination, roughly half a million children would go to U.S. emergency rooms every year from this infection,” Dr. Offit said. “Of that number, 75,000 children would be hospitalized with severe dehydration, and 20 to 60 would die. Today, child hospitalizations from rotavirus have dropped by 85 percent in this country.”

In October 2015, Dr. Offit, who is also is the Maurice R. Hilleman Professor of Vaccinology and professor of Pediatrics at the Perelman School of Medicine at the University of Pennsylvania, was inducted into the American Academy for Arts and Sciences along with the likes of journalist and novelist Tom Wolfe and singer-songwriter Judy Collins. The recognition for his accomplishments continued as he joined the class of 2015 Fellows elected by the American Association for the Advancement of Science (AAAS), and was recognized at the 2016 AAAS Annual Meeting in Washington, D.C. Dr. Offit also received the 2016 Porter Prize from the University of Pittsburgh, which honors an individual’s exceptional performance in health promotion and disease prevention.

In 2016, Dr. Offit also won the Franklin Founder Award from the city of Philadelphia, the Lifetime Achievement Award from the Philadelphia Business Journal, and the Jonathan E. Rhoads Medal for Distinguished Service to Medicine from the American Philosophical Society. To top off all those awards, Dr. Offit became a Vax Pack Hero, one of about 50 central figures who played roles in the history of vaccines and are featured in a new educational program launched in 2016 by the Vaccine Education Center.

Dr. Offit is an author and vocal advocate for vaccine safety, childhood immunization, and stricter vaccine waiver requirements, publishing more than 150 papers in medical and scientific journals and six award-winning medical narratives.

Learn more about Dr. Offit in a Q&A that appeared in Bench to Bedside.

Kwaku Ohene-Frempong, MD, has a personal connection to sickle cell disease that has driven his research efforts to make a worldwide impact.

Director Emeritus of the Comprehensive Sickle Cell Center at Children’s Hospital of Philadelphia, President of the Sickle Cell Foundation of Ghana, and a world-renowned authority on sickle cell disease, Dr. Ohene-Frempong received a Millennium Excellence Award from the Millennium Excellence Foundation of Ghana in December 2015.

Dr. Ohene-Frempong, who is himself a carrier of the sickle cell trait, was recognized for his ongoing research on the disease and his efforts that established the first newborn screening program for the disease in Africa, a program which he is helping to expand nationwide. In addition, he has helped establish several sickle cell clinics in Ghana, the largest of which now has more than 10,000 patients.

“I was completely surprised, and it was a pleasant recognition not only of my work in sickle cell disease, but for the work my colleagues in Ghana have been able to accomplish,” Dr. Ohene-Frempong said. “I am only a catalyst for much of that activity, since I’m a visitor from time to time, but there are many others who continue to work hard.”

In addition to his research focus on clinical complications from sickle cell disease at CHOP, Dr. Ohene-Frempong treats children with thalassemia, hemophilia, anemias, and other blood disorders.

Learn more about Dr. Ohene-Frempong in Bench to Bedside.

The World Health Organization lists antibiotic resistance as one of the three greatest threats to human health. Theoklis E. Zaoutis, MD, MSCE, chief of the division of Infectious Diseases at Children’s Hospital of Philadelphia, was recognized in October 2015 by the Pediatric Infectious Diseases Society (PIDS) with a Distinguished Service Award for his superb leadership and research contributions that are on the frontline of this public health issue.

The award recognizes an outstanding society member who is dedicated to the specialty of pediatric infectious diseases. Dr. Zaoutis is involved in several national studies funded by the National Institutes of Health to determine what is the least amount of antibiotics physicians can use to effectively treat infections.

“The less antibiotics you use, the less likely you are to develop a resistant bug or bacteria,” Dr. Zaoutis said. “A lot of my research is focused on using antibiotics more appropriately so that we do not develop antibiotic resistance.”

The award also recognized Dr. Zaoutis’ strong track record in publishing. When PIDS launched the Journal of the Pediatric Infectious Disease Society in 2011, Dr. Zaoutis was named the inaugural editor-in-chief.

“He has been an extremely effective editor of the journal, as he is thoughtful, efficient, well-organized, fair-minded, well-informed, outspoken in the right way, and passionately committed to the causes he champions,” according to a PIDS announcement of the award given during IDWeek 2015, a combined annual scientific meeting of PIDS and several other professional organizations focused on infectious diseases.

Dr. Zaoutis is also director of the Center for Pediatric Clinical Effectiveness at CHOP and Werner and Gertrude Henle Professor of Pediatrics and professor of Epidemiology at the Perelman School of Medicine at the University of Pennsylvania.

Learn more about Dr. Zaoutis in a Q&A that appeared on Cornerstone.

Douglas Wallace, PhD, director of the Center for Mitochondrial and Epigenomic Medicine at Children’s Hospital of Philadelphia, was selected for two distinguished honors in the past year in recognition of his scientific contributions as the founder of the field of mitochondrial medicine. In October, the Franklin Institute announced Dr. Wallace as the recipient of the 2017 Benjamin Franklin Medal in Life Science, just a few months after he was inducted as a foreign member of the Italian Academy of Sciences during its 234th Annual meeting May 5 in Rome.

The Franklin Medal, a highly esteemed international award established in 1824, has been awarded to scientific superstars including Albert Einstein, Thomas Edison, Stephen Hawking, Marie Curie, Nikola Tesla, Niels Bohr, Bill Gates, and Max Planck. More than 100 Franklin Medal laureates have also received Nobel Prizes.

Founded in 1782 as the Italian Society, the Italian Academy of Sciences has a mission of encouraging scientific research and disseminating the progress of science to schools and the general public. Its membership is limited to 40 Italian scientists and 25 foreign members. Its exclusive membership rolls have listed such luminary names as the Italian scientists Alessandro Volta, Camillo Golgi, and Amedeo Avogadro, and non-Italians Louis Pasteur, Benjamin Franklin, and Albert Einstein.

“We are deeply honored that this very elite international scientific organization has recognized Dr. Wallace’s accomplishments,” said Bryan Wolf, MD, PhD, Chief Scientific Officer and director of the Research Institute, on the occasion of Dr. Wallace’s induction to the Italian Academy.

Analysis of the mitochondrial DNAs of a diverse array of patients led Dr. Wallace to discover mitochondrial DNA diseases and that mitochondrial DNA variation contributes to a wide range of rare and common metabolic and degenerative diseases as well as cancer and aging. His research program is an important part of our newly launched Roberts Collaborative for Genetics and Individualized Medicine.

Dr. Wallace joined CHOP in 2010 as the founding director of the CMEM, and is a professor of Pathology and Laboratory Medicine at CHOP and the Perelman School of Medicine at the University of Pennsylvania. He is also a member of the U.S. National Academies of Sciences and Medicine and the American Academy of Arts and Sciences.

Learn more about Dr. Wallace in a Q&A that appeared in Bench to Bedside.

The American Society of Human Genetics (ASHG) named Elaine H. Zackai, MD, director of clinical genetics at Children’s Hospital of Philadelphia and professor of Pediatrics and Obstetrics and Gynecology at the Perelman School of Medicine at the University of Pennsylvania as the first-ever recipient of its Mentorship Award. A presentation at the ASHG Annual Meeting in October honored Dr. Zackai as the winner.

The Society, founded in 1948, is the primary professional membership organization for human genetics specialists worldwide with the mission to advance human genetics in science, health, and society, through excellence in research, education, and advocacy.

“Dr. Zackai’s nomination included testimonials from 38 former trainees who now occupy research and clinical positions at institutions around the world,” said Raju Kucherlapati, PhD, chair of the ASHG Awards committee. “Their comments credited her dedication to her students, leadership by example, compassion for patients, and rigorous approach to diagnosis with inspiring them to successful careers in human genetics.”

Dr. Zackai is a long-time member of ASHG and served on its Awards and Abstract Review Committees in 1998. She has held faculty and hospital appointments at CHOP and the University of Pennsylvania, where she has focused on diagnosis, dysmorphology, and applied clinical research responding to real-world situations.

Learn more about Dr. Zackai in a Q&A that appeared on Cornerstone.

A neonatologist at Children’s Hospital of Philadelphia received an honor comparable to the Presidential Medal of Freedom, the highest civil award in the U.S. Barbara Schmidt, MD, FRCP(C), MSc, who works in the division of Neonatology at CHOP and the Hospital of the University of Pennsylvania, was made a Member of the Order of Canada for her contributions to advancing the standard of care for critically ill newborns in Canada and abroad.

The Canadian Governor General presents honors and awards on behalf of all Canadians to recognize those people who have demonstrated excellence, courage, or exceptional dedication to service in ways that bring special credit to Canada.

Dr. Schmidt, who is a Canadian citizen, has been the lead investigator of three major clinical trials that have changed how care is provided in neonatal intensive care units across North America. Additionally, her novel approach to long-term patient follow-up has influenced the design of all studies involving newborns.

“I am honored and humbled by this award and delighted that rigorous clinical research in neonatal medicine has received this recognition from the Canadian government,” said Dr. Schmidt, who is also a professor of Pediatrics and the Kristine Sandberg Knisely Chair in Neonatology at the Perelman School of Medicine at the University of Pennsylvania.

Good things always come in threes, so the saying goes, and the rule certainly held true for three outstanding physician-researchers at CHOP who received 2016 Young Physician-Scientist Awards. As part of this special recognition, they shared their novel insights at a joint meeting of the Association of American Physicians, the American Society for Clinical Investigation, and the American Physician Scientists Association in April.

Gregory E. Tasian, MD, MSc, MSCE

Although kidney stones are more common in adults, the diagnosis of this painful condition in children has risen dramatically over the past 25 years. Despite that fact, little is known about the best treatment course and prevention strategies for children with kidney stones. Gregory E. Tasian, MD, MSc, MSCE, witnessing this trend firsthand as a pediatric urologist and epidemiologist, has developed a research program that seeks to identify determinants of kidney stone disease and effective interventions to reduce the risk of kidney stone recurrence among children.

His findings gained attention for identifying the effect of daily temperatures on kidney stone presentation. In his study, published in Environmental Health Perspectives, Dr. Tasian reported that extremes of hot and cold temperatures were associated with an increased risk of presenting with kidney stones. These results suggest that current and future climate change may contribute to increased morbidity from kidney stones, which currently affects approximately 9 percent of the U.S. population. Specifically, he found that the delay between high daily temperatures and kidney stone presentation was short, peaking within three days of exposure to hot days. Sizzling temps increase evaporative water loss, which leads to a higher concentration of calcium and other minerals in the urine that promote the formation of kidney stones.

“The goal of my research is ultimately to lead to personalized, targeted interventions to increase fluid intake and decrease the risk of recurrence,” said Dr. Tasian, who also is an assistant professor of Surgery and Epidemiology at the Perelman School of Medicine at the University of Pennsylvania. “If we can identify those periods of risk, then we also can identify interventions to offset that risk.”

Read more about Dr. Tasian’s kidney stones research in our blog.

Michelle Denburg, MD, MSCE

Michelle Denburg, MD, MSCE, is an attending physician in the division of Nephrology at CHOP and an assistant professor of Pediatrics and Epidemiology at the Perelman School of Medicine. In addition to both earning Young Physician-Scientist Awards, Dr. Tasian and Dr. Denburg have something else in common: Their research interests overlap in fascinating ways.

Kidney stones are increasingly being recognized as a chronic disorder of mineral metabolism, which is a focus of Dr. Denburg’s research on bone health in childhood chronic kidney disease. Dr. Denburg and Dr. Tasian worked together on a research paper published in the Clinical Journal of the American Society of Nephrology that showed people with kidney stones — especially male teens and young women — are at a higher risk for bone fractures than the general population.

“Recognizing that these children are at high risk for compromised bone health, the next step is identifying factors that we can modify to optimize their bone accrual as much as we can and set them up for entering adulthood in a better state,” Dr. Denburg said.

At the joint meeting of the young investigators in Chicago, Dr. Denburg presented a related study published in Kidney International that evaluated the impact of interventions for kidney stones on the development of hypertension and chronic kidney disease. This study confirmed that patients with kidney stones are at higher risk for developing hypertension and chronic kidney disease, and found that shock wave lithotripsy to the kidney is independently associated with a significantly higher risk of hypertension, while ureteroscopy is not. Therefore, this study has important implications for the management and long-term follow-up of these patients.

Dr. Denburg’s research program is also focused on bone and mineral metabolism in patients with another form of kidney disease, nephrotic syndrome. A new project that Dr. Denburg is excited to launch is her collaboration with PEDSnet and the NephCure Kidney Network to create a Pediatric Glomerular Disease Learning Network (GLEAN) along with pediatric nephrologists from eight participating institutions, including CHOP. Patients with glomerular diseases lose protein in their urine. When these protein losses are very high, called nephrotic syndrome, patients experience swelling, low blood protein, and potentially deterioration of kidney function and other complications.

GLEAN investigators are using data captured in the electronic health record to identify patients with glomerular disease across the eight pediatric centers and create a large cohort of participants to enable outcomes and comparative effectiveness research, quality improvement studies, and eventually pragmatic clinical trials. One of the initial goals Dr. Denburg aims to accomplish through GLEAN is to perform the first study of musculoskeletal outcomes in children and adolescents with glomerular diseases.

“Since PedsNet has more than 5 million children represented, GLEAN is an opportunity to study patients with these rare diseases on a much larger scale than in the past and to address many of the challenges to implementing high quality trials,” Dr. Denburg said.

Shana McCormack, MD, MTR

Shana McCormack, MD, MTR, an attending physician in the division of Endocrinology and Diabetes at CHOP who studies neuroendocrine regulation of energy balance, was proud to be in the company of her fellow colleagues who were honored with Young-Physician Scientist Awards. Dr. McCormack is especially interested in finding potential common pathways of mitochondrial dysfunction in patients with diabetes and patients with genetic mitochondrial disorders.

Dr. McCormack received great feedback at the joint meeting that gathered all the young investigators when she presented her project that uses novel magnetic resonance imaging (MRI) studies of muscle mitochondrial function. The new noninvasive technique, developed by her colleagues at the University of Pennsylvania’s Center for Magnetic Resonance and Optical Imaging, estimates mitochondrial energy production.

More precisely, this technique can detect changes in muscle creatine content before and after exercise that allow estimation of mitochondrial oxidative phosphorylation (OXPHOS) capacity, an important indicator of energy production. Some of the advantages of this new approach, called creatine chemical exchange saturation transfer (CrCEST), are that it is noninvasive, avoiding the need for a muscle biopsy, and that it provides excellent anatomic resolution, allowing researchers to assess mitochondrial function in different muscle groups simultaneously.

“The mitochondria are the energy-producing factories of the cell, and there are a number of endocrine conditions that are characterized by decreased oxidative phosphorylation capacity, where the mitochondria are not producing energy properly,” Dr. McCormack said. “This problem has all sorts of downstream effects, and different muscle types can be affected differently in response to metabolic diseases. In order to study the phenomenon better, we need to have a good, noninvasive way of measuring mitochondrial oxidative phosphorylation capacity, especially if we wish to study children longitudinally to assess the impact of a metabolic disease.”

In a paper published in the November issue of JCI Insight, Dr. McCormack and her colleagues demonstrated that CrCREST is a viable technique to measure OXPHOS capacity in individuals with genetic mitochondrial diseases. This new tool will help researchers to gain insights into mitochondrial bioenergetics and provide an objective biomarker for clinical treatment trials so that they can determine if an intervention is helping a patient’s mitochondria to function better.

Dr. McCormack is also an assistant professor of Pediatrics at Penn. Read more about her research on disorders of energy balance in our blog.