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 Omphalocele. His top areas of expertise are Cloacal Exstrophy, Exstrophy of the Bladder, Exstrophy-Epispadias Complex, Osteotomy, and Bladder Reconstruction.

Dr. Julie Hoover-Fong is a Professor of Genetic Medicine and Pediatrics and Director of the Greenberg Center for Skeletal Dysplasias at Johns Hopkins University. Dr. Hoover-Fong holds a bachelor’s degree in Human Nutrition from The Ohio State University, where she also completed her medical degree. She received her Ph.D. in the Graduate Training Program in Clinical Investigation at the Johns Hopkins University School of Medicine and Bloomberg School of Public Health. Dr. Hoover-Fong completed a pediatric internship and residency at Washington University in St. Louis and a fellowship in medical genetics at Johns Hopkins University in Baltimore. She joined the Johns Hopkins University faculty in 2002 and progressed to Professor of Genetic Medicine and Pediatrics in 2019. She practices and oversees the clinical operations, research and educational ventures for the patients, families and healthcare providers served by the Greenberg Center. Her clinical team develops and improves diagnostic and treatment guidelines for comprehensive care of patients with all types of bone conditions including dwarfism, orofacial clefting, craniosynostosis and more. Dr. Hoover-Fong also mentors and teaches medical students, residents and genetic medicine trainees. As an active clinical researcher, Dr. Hoover-Fong is the Principal Investigator of multiple global clinical trials for achondroplasia, the first multi-center, investigator-initiated natural history study for achondroplasia, and multiple clinical studies for patients with orofacial clefting, hypophosphatasia and other conditions. She is also a co-investigator on the ELSI and Phenotype Review Committees for the Mendel Project, a whole exome sequencing venture to identify the genetic cause of Mendelian conditions. From an institutional service perspective, Dr. Hoover-Fong serves on the Johns Hopkins Associate Professor Promotions Committee and the Advisory Committee for the Graduate Training Program in Clinical Investigation. She serves on the Medical Advisory Board of the Little People of America, is a member of the Miller-Coulson Academy of Clinical Excellence at Johns Hopkins University and is a charter member of the International Skeletal Dysplasia Management Consortium, publishing best practice guidelines for patients with skeletal dysplasias. Dr. Hoover is rated as an Advanced provider by MediFind in the treatment of Omphalocele. Her top areas of expertise are Achondroplasia, Rhizomelic Syndrome, Spondyloepimetaphyseal Dysplasia Strudwick Type, Adenoidectomy, and Myringotomy.

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 Omphalocele. Her top areas of expertise are Exstrophy of the Bladder, Exstrophy-Epispadias Complex, Cloacal Exstrophy, Bladder Reconstruction, and Osteotomy.

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 Omphalocele. 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.

Dr. Angie Jelin is the assistant director of prenatal genetics at the Prenatal Diagnostic Center in the Division of Maternal-Fetal Medicine and an assistant professor in the Johns Hopkins Medicine Department of Gynecology and Obstetrics. Her areas of clinical expertise include prenatal genetic counseling, fetal imaging, chorionic villus sampling and amniocentesis, with a focus on fetal complications in pregnancy. Dr. Jelin earned her medical degree from Harvard Medical School. She did her residency in obstetrics and gynecology at the University of California, San Francisco, and then remained there to complete a maternal-fetal medicine and genetics fellowship. In 2015, Dr. Jelin joined the Johns Hopkins faculty, at which time she also received a Building Interdisciplinary Research Careers in Women’s Health grant to study fetal genetic disorders. Dr. Jelin’s research involves fetal imaging and genetic diagnoses, including whole exome sequencing. Dr. Jelin is a member of the American College of Obstetricians and Gynecologists, the Society of Maternal-Fetal Medicine and the International Society of Prenatal Diagnosis. She currently serves on the IRB committee of the American Board of Obstetrics and Gynecology. Dr. Jelin has published many articles in obstetrics and maternal-fetal medicine journals. Dr. Jelin is rated as an Experienced provider by MediFind in the treatment of Omphalocele. Her top areas of expertise are Polyhydramnios, Bilateral Renal Agenesis Dominant Type, Lung Agenesis, and Atresia of Small Intestine.

Karin Blakemore, M.D., is the director of prenatal genetics at the prenatal diagnostic center in the Johns Hopkins Department of Gynecology and Obstetrics, and she is a member of the McKusick-Nathans Institute of Genetic Medicine. Her areas of clinical expertise include fetal imaging and fetal genetic disorders. Dr. Blakemore also serves as a professor of oncology and of gynecology and obstetrics in the Johns Hopkins University School of Medicine. Dr. Blakemore earned her medical degree from the Medical College of Ohio at Toledo. She completed her residency at New York University Medical Center and performed fellowships in genetics at Yale University School of Medicine and in maternal and fetal medicine at Washington University School of Medicine. Her research interests include Fetal Genetic Disorders; Prenatal Diagnosis and Fetal Treatment; In Utero Hematopoietic Stem Cell Transplantation; Hemoglobinopathies; Red cell and platelet alloimmunization; Intrapartum physiology and outcomes; Placental development and abnormalities. Dr. Blakemore is rated as an Experienced provider by MediFind in the treatment of Omphalocele. Her top areas of expertise are HELLP Syndrome, Desbuquois Syndrome, Atypical Hemolytic Uremic Syndrome (aHUS), and Hypochondroplasia.

Irina Bernescu is a Colorectal Surgeon in Columbia, Maryland. Dr. Bernescu is rated as an Experienced provider by MediFind in the treatment of Omphalocele. Her top areas of expertise are Anal Cancer, Familial Colorectal Cancer, Hemorrhoids, Hernia Surgery, and Colonoscopy.

Dr. Fagen specializes in pediatric radiology at Johns Hopkins All Children’s Hospital. She joined the hospital staff in 2019. Dr. Fagen earned her medical degree from the Uniformed Services University of the Health Sciences in Bethesda, Maryland. She completed her internship at National Capital Consortium and residency in diagnostic radiology at Naval Medical Center San Diego. She completed a fellowship in pediatric radiology at Children’s National Medical Center. Dr. Fagen is rated as an Experienced provider by MediFind in the treatment of Omphalocele. Her top areas of expertise are Omphalocele and Gastroschisis.

Dr. Couser obtained his bachelor’s degree from the University of Virginia and his Medical Doctorate from the Virginia Commonwealth University School of Medicine (VCU SOM). Dr. Couser’s ophthalmology residency was completed at Howard University where he served as co-chief resident in the last year of his residency. He received fellowship training in pediatric ophthalmology and adult strabismus at Emory University. Dr. Couser received a master’s degree in biotechnology from the Johns Hopkins University and completed a residency in clinical genetics at the University of North Carolina at Chapel Hill. He is one of only a few individuals currently board-certified by both the American Board of Ophthalmology and the American Board of Medical Genetics and Genomics. CV https://www.hopkinsmedicine.org/-/media/wilmer/documents/cvs/couser-cv Research Summary My primary research focus involves the identification and management of genetic eye diseases including rare inherited disorders affecting the eyes. Research and scholarly activities have been an integral component of my career path. I have been the principal investigator on 10 clinical trial/IRB studies and a co-investigator on others, participated with several committees or advisory panels related to research activities. I have been credited with over 120 book chapter, journal article and abstract publications. In addition, I served as the primary author/sole editor for a textbook titled Ophthalmic Genetic Diseases: A Quick Reference Guide to the Eye and External Ocular Adnexa Abnormalities, 1st Edition, published by Elsevier in 2018, which is one of only a few textbooks published in this subject area. I also served as a grant review panelist for the National Eye Institute Career Development Awards. Selected Publications *Couser NL, Masood MM, Strande NT, Foreman AKM, Crooks K, Weck KE, Lu M, Wilhelmsen KC, Roche M, Evans JP, Berg JS, Powell CM. 2015. The phenotype of multiple congenital anomalies- hypotonia-seizures syndrome 1: Report and review. Am J Med Genet Part A 9999A:1–6 *Couser NL, Lambert SR. Botulinum toxin: A treatment of consecutive esotropia in children. Strabismus 2012; 20(4):158-161 Couser NL, Lenhart PD, Hutchinson AK. Augmented Hummelsheim procedure to treat complete abducens nerve palsy. J AAPOS 2012;16(4):331-5 *Natario L. Couser, Maheer M. Masood, Arthur S. Aylsworth, and Roger E. Stevenson. Ocular manifestations in the X-linked intellectual disability syndromes. Ophthalmic Genet. 2017, Jan 23:1-12 *Couser NL, Brooks BP, Drack AV, Shankar SP. The evolving role of genetics in ophthalmology. Ophthalmic Genet. 2021 Jan 12:1-4. doi: 10.1080/13816810.2020.1868011. Dr. Couser is rated as an Experienced provider by MediFind in the treatment of Omphalocele. His top areas of expertise are Epicanthal Folds, Strabismus, Brown Syndrome, and Hypotonia.

Ahmed Ghazi is an associate professor of urology at the Johns Hopkins University School of Medicine. He is the Director of Surgical Simulation Training and the Division of Minimally Invasive and Robotic Surgery within the Johns Hopkins Brady Urological Institute. Dr. Ghazi specializes in urologic surgical oncology using the latest techniques of minimally invasive surgery for prostate, kidney, bladder, ureteral and other genitourinary organ cancers. He also as specializes in minimal invasive treatment of complex stones of the urinary tract. Dr. Ghazi is a pioneer in the field of patient-specific surgical simulation, which has applications for training future surgeons as well as improving outcomes for patients through individualized modeling. When planning for a complex surgery, Dr. Ghazi constructs 3D models of the patient’s anatomy in order to plan and rehearse surgery prior to the actual surgery. These models span from digital renderings to tangible models used to practice the critical components of your surgery. Dr. Ghazi received his medical degree from Cairo University in Egypt in 2000, where he also completed his surgery training and urology residency. From there, Dr. Ghazi completed a laparoscopic fellowship in Paris, France in 2008, followed by a second laparoscopic fellowship in Austria in 2009. While practicing in Europe, Dr. Ghazi was accepted to the European Board of Urology. Dr. Ghazi continued his training at the University of Rochester, New York through a two-year fellowship in the robotic treatment of various urologic cancers. He then joined the staff at the urology department of University of Rochester in 2012 where he continued to practice until joining Johns Hopkins Medicine. Dr. Ghazi believes in a reciprocal relationship between innovation, surgery & research where each informs and strengthens the others. He strives to adopt innovative surgical technologies that are evidence-based, benefit his patients and translate directly to improved patient outcomes. Dr. Ghazi is rated as an Experienced provider by MediFind in the treatment of Omphalocele. His top areas of expertise are Prostate Cancer, Kidney Stones, Boils, Prostatectomy, and Nephrectomy.

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 Omphalocele. Her top areas of expertise are Spondyloepimetaphyseal Dysplasia Strudwick Type, Greenberg Dysplasia, Blepharophimosis, and Early Infantile Epileptic Encephalopathy.

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 Omphalocele. His top areas of expertise are Spondyloepimetaphyseal Dysplasia Strudwick Type, Micrognathia, Urea Cycle Disorders (UCD), and Spondyloepiphyseal Dysplasia Congenita.

Rong Zhang is a primary care provider, practicing in Internal Medicine in Ellicott City, Maryland. Dr. Zhang is rated as an Experienced provider by MediFind in the treatment of Omphalocele. Her top areas of expertise are Hypertension, Familial Hypertension, Glucocorticoid-Remediable Aldosteronism, and Tracheoesophageal Fistula. Dr. Zhang is currently accepting new patients.

Eric Strauch is a General Surgeon in Baltimore, Maryland. Dr. Strauch is rated as an Experienced provider by MediFind in the treatment of Omphalocele. His top areas of expertise are Omphalocele, Hypoplasia of the Tibia with Polydactyly, Pilonidal Sinus Disease, Gastrostomy, and Appendectomy. Dr. Strauch 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 Omphalocele. His top areas of expertise are Hereditary Spherocytosis, Post-Splenectomy Syndrome, Gastroschisis, Splenectomy, and Lung Transplant. Dr. Englum is currently accepting new patients.

Estelle Gauda is a Neonatologist in Baltimore, Maryland. Dr. Gauda is rated as an Experienced provider by MediFind in the treatment of Omphalocele. Her top areas of expertise are Infantile Apnea, Premature Infant, Apnea of Prematurity, and Cerebral Hypoxia.

Adil Haider is a General Surgeon in Baltimore, Maryland. Dr. Haider is rated as an Experienced provider by MediFind in the treatment of Omphalocele. His top areas of expertise are Diastrophic Dysplasia, Appendicitis, Low Blood Pressure, Small Bowel Resection, and Appendectomy.

Henry Lau is a General Surgeon in Baltimore, Maryland. Dr. Lau is rated as an Experienced provider by MediFind in the treatment of Omphalocele. His top areas of expertise are Omphalocele, Umbilical Hernia, Osteotomy, and Bladder Reconstruction.

Maximilian Muenke is a Medical Genetics provider in Bethesda, Maryland. Dr. Muenke is rated as an Experienced provider by MediFind in the treatment of Omphalocele. His top areas of expertise are Holoprosencephaly, Turner Syndrome, Craniosynostosis, and Corpus Callosum Agenesis.

Silke Niederhaus is a Transplant Surgeon and a General Surgeon in Baltimore, Maryland. Dr. Niederhaus is rated as an Experienced provider by MediFind in the treatment of Omphalocele. Her top areas of expertise are End-Stage Renal Disease (ESRD), Chronic Antibody-Mediated Rejection, Thrombophlebitis, Pancreas Transplant, and Kidney Transplant. Dr. Niederhaus is currently accepting new patients.