Dr. Heather Noelle Di Carlo is an associate professor of urology at the Johns Hopkins University School of Medicine. She treats all pediatric urological disorders in young males and females while specializing in renal sparing surgery and complex reconstruction of the genitourinary tract in patients with the exstrophy-epispadias complex, disorders of sexual development (DSD) and other congenital anomalies. She serves as the Director of Pediatric Urology Research and is the interim Division Director of Pediatric Urology. A native of New York, Dr. Di Carlo graduated from Emory University with a B.S. in neuroscience and music, and the State University of New York at Stony Brook School of Medicine. Following general surgery and urology residency training at Stony Brook Medical Center, she completed a pediatric urology fellowship at the James Buchanan Brady Urological Institute. Dr. Di Carlo has special clinical and basic science interests in the exstrophy-epispadias complex, spina bifida and renal transplantation. Dr. Di Carlo is rated as an Advanced provider by MediFind in the treatment of Imperforate Anus. Her top areas of expertise are Exstrophy of the Bladder, Exstrophy-Epispadias Complex, Cloacal Exstrophy, Bladder Reconstruction, and Osteotomy.

Dr. John P. Gearhart is a professor of pediatrics and urology at the Johns Hopkins School of Medicine. His clinical and surgical interests focus on the evaluation and treatment of children born with major congenital birth defects, bladder exstrophy, disorders of sexual development and childhood urinary cancers. Dr. Gearhart received his M.D. from the University of Louisville School of Medicine in 1975. After an internship in surgery and residencies in surgery and urology at the Medical College of Georgia, he completed a fellowship in pediatric urology at Alder Hey Children's Hospital of the University of Liverpool School of Medicine in 1981. Following two years as a urologist at St. Mary's Hospital in Huntington, West Virginia, he completed a second fellowship in pediatric urology at Johns Hopkins in 1985 and joined the Johns Hopkins faculty thereafter as an associate professor of pediatric urology. Over the course of his distinguished career, Dr. Gearhart has been lauded as a pioneer in pediatric urology and reconstructive genitourinary surgery. He has published extensively and has received numerous awards and guest lectureships. He is a member of several national and international professional organizations and is a founding member of the Society of Reconstructive Genitourinary Surgeons. Dr. Gearhart is rated as an Advanced provider by MediFind in the treatment of Imperforate Anus. His top areas of expertise are Cloacal Exstrophy, Exstrophy of the Bladder, Exstrophy-Epispadias Complex, Osteotomy, and Bladder Reconstruction.

Mahir Maruf is an Urologist in Bethesda, Maryland. Dr. Maruf has been practicing medicine for over 10 years and is rated as an Advanced provider by MediFind in the treatment of Imperforate Anus. His top areas of expertise are Exstrophy of the Bladder, Cloacal Exstrophy, Exstrophy-Epispadias Complex, Bladder Reconstruction, and Osteotomy. Dr. Maruf is currently accepting new patients.

Brian Englum is a Pediatric Surgeon and a General Surgeon in Baltimore, Maryland. Dr. Englum is rated as an Experienced provider by MediFind in the treatment of Imperforate Anus. His top areas of expertise are Hereditary Spherocytosis, Post-Splenectomy Syndrome, Gastroschisis, Splenectomy, and Lung Transplant. Dr. Englum is currently accepting new patients.

Kimberly Lumpkins is a Pediatric Surgeon and a General Surgeon in Baltimore, Maryland. Dr. Lumpkins is rated as an Experienced provider by MediFind in the treatment of Imperforate Anus. Her top areas of expertise are Undescended Testicle, Mediastinitis, Thrombophlebitis, Oophorectomy, and Reconstructive Urology Surgery. Dr. Lumpkins is currently accepting new patients.

Dr. David Valle is a professor of pediatrics and ophthalmology at the Johns Hopkins School of Medicine and former director of the Johns Hopkins Department of Genetic Medicine. He also serves as a geneticist for the Johns Hopkins Children’s Center. Dr. Valle holds a bachelor’s degree and medical degree from Duke University. He completed a pediatric residency at Johns Hopkins University before joining the Johns Hopkins faculty. He is interested in the genetic contributions to health and disease. He is the founding director of the Johns Hopkins Center for Inherited Disease Research. Over the years, his laboratory has discovered the genetic causation for more than 20 diseases, including those responsible for inborn errors of metabolism, inherited retinal degeneration, disorders of cellular organelle biogenesis and genetic variations that contribute risk for common disorders such as schizophrenia. Dr. Valle also serves as director of the Predoctoral Training Program in Human Genetics, as well as co-director of the Genes to Society program. He was a 2014 recipient of the annual Victor A. McKusick Leadership Award from the American Society of Human Genetics, which recognizes individuals whose professional achievements have fostered and enriched the development of human genetics as well as its assimilation into the broader context of science, medicine and health. Dr. Valle is rated as an Experienced provider by MediFind in the treatment of Imperforate Anus. His top areas of expertise are Spondyloepimetaphyseal Dysplasia Strudwick Type, Micrognathia, Urea Cycle Disorders (UCD), and Spondyloepiphyseal Dysplasia Congenita.

Dr. Nara Lygia De Macena Sobreira is an assistant professor at the McKusick-Nathans Department of Genetic Medicine at Johns Hopkins University School of Medicine. Her area of expertise is rare Mendelian phenotypes, analysis of next-generation sequencing, and functional testing of candidate causative variants. She earned her M.D. at the University of Pernambuco in Brazil. She finished her Ph.D. in Human Genetics at Johns Hopkins followed by a one-year postdoc also at Johns Hopkins School of Medicine. During her Ph.D., she worked with Dr. David Valle using next-generation sequencing to elucidate the molecular basis of rare Mendelian phenotypes and in 2010 she discovered PTPN11 as the gene responsible for metachondromatosis by using whole-genome sequencing. She completed residencies in clinical genetics at both Universidade Federal de Sao Paulo and Johns Hopkins. Her main clinical and research focus is on identifying the genetic bases of rare phenotypes, mainly, phenotypes associated with cartilage tumors and vascular anomalies (including Ollier disease and Maffucci syndrome), and on understanding the physiopathology of these phenotypes to identify pharmacological strategies to treat them. She has worked extensively on developing strategies to better analyze the variants identified by next-generation sequencing and on novel strategies for data sharing. She participated on the development of PhenoDB, a phenotypic and genomic database, and created PhenoDB Variant Analysis Tool used worldwide. She is also one of the creators of GeneMatcher, VariantMatcher, and one of the co-founders of the Matchmaker Exchange, all intended to share next-generation sequencing data. She has also worked extensively on functional studies that evaluate the possible pathogenic effects of the candidate causative variants. Recent News Articles and Media Coverage Living the Hopkins Mission Honorees, Johns Hopkins Medicine Successes in Characterizing Genes through GeneMatcher with Nara L. M. Sobreira, MD, PhD, Ambry Genetics (April 30, 2018) Enfermedades raras: el desafio es encontrar otros pacientes que tienen el mismo mal, Lun (26 de septiembre de 2019) 2021 Science Writers' Boot Camp, Johns Hopkins Medicine (June 7, 2021) Making the Perfect Match, Johns Hopkins Medicine (February 1, 2020). Dr. De Macena Sobreira is rated as an Experienced provider by MediFind in the treatment of Imperforate Anus. Her top areas of expertise are Spondyloepimetaphyseal Dysplasia Strudwick Type, Greenberg Dysplasia, Blepharophimosis, and Early Infantile Epileptic Encephalopathy.

Chad Crigger, M.D., M.P.H., is a pediatric urologist at Johns Hopkins Children’s Center and an assistant professor of urology at the Johns Hopkins Brady Urological Institute. He also serves as the Associate Program Director of the Urology Residency Program. After growing up in Charleston, West Virginia, Dr. Crigger attended the University of Richmond, where he majored in biology. After college, he returned home to West Virginia and obtained his medical doctorate from Marshall University and a master’s in public health from West Virginia University. He then completed an internship in general surgery and a residency in urologic surgery at West Virginia Ruby Memorial Hospital, where he was drawn to pediatric urology, particularly the reconstructive aspects that draw on principles from several fields including pediatric plastic surgery. This, and a chance visiting professorship by John Gearhart, M.D., inspired Dr. Crigger to pursue training in major reconstructive pediatric urology at Johns Hopkins, where he completed a fellowship. Relying on his background as a camp counselor, Dr. Crigger makes his patients active participants in their care whenever possible, often through sketching their condition. He is a member of multiple professional societies, including the American Urological Association and the American College of Surgeons. A researcher and director of pediatric urology research, he has published more than 50 articles in major journals and contributed to over 20 book chapters on pediatric urology. Dr. Crigger’s research focuses on his passion for major congenital anomalies, particularly the exstrophy-epispadias complex, about which he has multiple projects spanning the basic and clinical sciences. Additionally, with extensive training in robotic surgery, Dr. Crigger serves as director of robotic surgery for pediatric urology. His team looks for ways to safely apply the robotic surgery platform, including single port surgery, when feasible. His philosophy in practicing medicine is simple: to “provide the greatest benefit through the most up-to-date and least morbid treatment options possible.” Regarding providing care for patients and working with families, his focus is singular. When talking with parents, he can often be heard saying, “I know that, whether I am performing surgery or offering my professional recommendation, I am caring for one of the most important people in your life. I take that responsibility seriously and will do my very best to deliver the highest level of care possible.” Videos Chad Crigger, M.D.Pediatric Urologist. Dr. Crigger is rated as an Experienced provider by MediFind in the treatment of Imperforate Anus. His top areas of expertise are Exstrophy of the Bladder, Cloacal Exstrophy, Exstrophy-Epispadias Complex, Osteotomy, and Bladder Reconstruction.

Dr. Gerald Raymond is a clinical geneticist and neurologist at Johns Hopkins where he is also a professor of genetic medicine and neurology. He obtained his MD at the University of Connecticut and was trained in Pediatrics at Johns Hopkins Hospital and Neurology at the Mass. General Hospital. He received additional training in developmental neuropathology at the Universite Catholique de Louvain in Belgium and clinical genetics at the Harvard Program. Dr. Raymond’s research has been at the overlap of genetics and neurology with specific focus on peroxisomal disorders including adrenoleukodystrophy. He has been actively involved in newborn screening for ALD and in developing clinical follow-up programs. He has extensive experience in clinical management of neurogenetic issues including peroxisomal and lysosomal disorders. He presently serves as the Director of the Lysosomal Storage Disease program in the department of Genetic Medicine. Dr. Raymond is rated as an Experienced provider by MediFind in the treatment of Imperforate Anus. His top areas of expertise are Adrenoleukodystrophy (ALD), CACH Syndrome, Zellweger Syndrome, and Leukodystrophy.

Shaun M. Kunisaki, MD, MSc, is Professor of Surgery at the Johns Hopkins School of Medicine, a Robert & Jane Meyerhoff Professor at Johns Hopkins University, and Associate Chief of Strategy and Integration in the Division of General Pediatric Surgery at the Johns Hopkins Children's Center. Dr. Kunisaki's clinical practice spans the full breadth of pediatric general, thoracic, and fetal surgery, but he is a nationally and internationally recognized authority in the prenatal and postnatal management of congenital thoracic anomalies, including lung malformations, esophageal atresia, and congenital diaphragmatic hernia. He is the Director of the Fetal Program in General Pediatric Surgery and chairs the Prenatal Pediatrics Steering Committee, a collaboration between the Johns Hopkins Children's Center and the Department of Gynecology & Obstetrics at the Johns Hopkins Hospital. As Director of the Pediatric Esophageal Center, he specializes in the management of complex esophageal disorders such as long-gap esophageal atresia. He serves on the Editorial Board of several journals, including Pediatrics and Surgery, and holds senior leadership positions in the American Pediatric Surgical Association (APSA), Section on Surgery of the American Academy of Pediatrics (AAP), and the Society of University Surgeons (SUS). Dr. Kunisaki has published over 100 peer-reviewed manuscripts and book chapters. His laboratory is funded by the National Institutes of Health and is largely focused on using stem cells derived from a patient's own tissues to better understand and treat several important pediatric surgical diseases. His team has developed techniques to reprogram fetal and neonatal tissues into pluripotent stem cells and organoids, and are working with scientists and engineers to improve long-term outcomes for children with severe birth defects, including spina bifida and congenital diaphragmatic hernia. More recently, he founded the Eastern Pediatric Surgery Network (EPSN), a clinical research collaborative composed of pediatric surgeons from over 20 children's hospitals in the country. A native of southern California, Dr. Kunisaki graduated with honors from Harvard College, the London School of Economics and Political Science, and Harvard Medical School. He completed general surgery residency at the Massachusetts General Hospital/Harvard Medical School followed by a pediatric surgery fellowship at the University of Michigan. He also did additional research fellowships at the Massachusetts General Hospital and at Boston Children's Hospital. Philanthropy plays a crucial role in the work Dr. Kunisaki does by providing seed funding for research, funding for the best educational resources to train the future generation of pediatric surgeons, and additional support services for families receiving treatment that are not covered by insurance. Support Dr. Kunisaki. Dr. Kunisaki is rated as an Experienced provider by MediFind in the treatment of Imperforate Anus. His top areas of expertise are Congenital Lobar Emphysema, Congenital Diaphragmatic Hernia, Diaphragmatic Hernia, Appendectomy, and Endoscopy.