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 a Distinguished provider by MediFind in the treatment of Schwartz-Jampel Syndrome. Her top areas of expertise are Achondroplasia, Rhizomelic Syndrome, Spondyloepimetaphyseal Dysplasia Strudwick Type, Adenoidectomy, and Myringotomy.

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 Advanced provider by MediFind in the treatment of Schwartz-Jampel Syndrome. Her top areas of expertise are Spondyloepimetaphyseal Dysplasia Strudwick Type, Greenberg Dysplasia, Blepharophimosis, and Early Infantile Epileptic Encephalopathy.

Ambroise Wonkam is a Pediatrics specialist and a Medical Genetics provider in Baltimore, Maryland. Dr. Wonkam is rated as an Experienced provider by MediFind in the treatment of Schwartz-Jampel Syndrome. His top areas of expertise are Anemia, Fragile X Syndrome, Pyle Disease, and Micrognathia.

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

Lisa Kratz is a Medical Genetics provider in Baltimore, Maryland. Dr. Kratz is rated as an Experienced provider by MediFind in the treatment of Schwartz-Jampel Syndrome. Her top areas of expertise are Greenberg Dysplasia, Smith-Lemli-Opitz Syndrome, Rhizomelic Syndrome, and Chondrodysplasia Punctata Syndrome.

Bart Loeys is a Radiologist in Baltimore, Maryland. Dr. Loeys is rated as an Experienced provider by MediFind in the treatment of Schwartz-Jampel Syndrome. His top areas of expertise are Acromicric Dysplasia, Spontaneous Coronary Artery Dissection (SCAD), Ectodermal Dysplasias, and Clouston Syndrome.

Guney Yilmaz is an Orthopedics provider in Baltimore, Maryland. Dr. Yilmaz is rated as an Advanced provider by MediFind in the treatment of Schwartz-Jampel Syndrome. His top areas of expertise are Multiple Epiphyseal Dysplasia, Collins Pope Syndrome, Brachydactyly Type B, Tenotomy, and Osteotomy.

Erin Honcharuk, M.D., is a pediatric orthopaedic surgeon with training and expertise in a variety of bone and joint injuries, deformities and diseases affecting children, adolescents, and young adults. She specializes in treating children with conditions affecting the lower extremities, including hip dysplasia, joint instability, clubfoot, bone dysplasias and fractures. She is also skilled in limb-lengthening and reconstructive procedures to correct uneven limbs and treat congenital limb differences. Dr. Honcharuk graduated from the Rutgers-Robert Wood Johnson Medical School in New Jersey, where she received a full scholarship. She completed her residency there in orthopaedic surgery, and was awarded the Resident of the Year Award. She then trained as a pediatric orthopaedic fellow at the Texas Scottish Rite Hospital for Children in Dallas, Texas. She did an additional fellowship at the Paley Orthopaedic and Spine Institute in West Palm Beach, Florida, focusing on limb reconstruction and lengthening. Dr. Honcharuk’s research interests include evaluation and treatment of limb length inequality, traumatic injuries, foot deformities and other pediatric conditions. She is a member of the Pediatric Orthopaedic Society of North America, the American Orthopaedic Association, and the Limb Lengthening and Reconstruction Society. When not at work, Dr. Honcharuk enjoys spending time with her husband and their rescue beagle mix, Furiosa. She also enjoys yoga and baking and decorating cakes. Videos Erin Honcharuk, M.D.Pediatric Orthopaedic Surgeon Leg Length Inequality with Dr. Erin Honcharuk Clubfoot in Children with Dr. Erin Honcharuk. Dr. Honcharuk is rated as an Experienced provider by MediFind in the treatment of Schwartz-Jampel Syndrome. Her top areas of expertise are Blount Disease, Brachydactyly Type A2, Liebenberg Syndrome, Brachydactyly Type C, and Osteotomy.

Michael Ain is an Orthopedics provider in Lutherville, Maryland. Dr. Ain is rated as an Experienced provider by MediFind in the treatment of Schwartz-Jampel Syndrome. His top areas of expertise are Achondroplasia, Short Stature (Growth Disorders), Lordosis, Osteotomy, and Spinal Fusion.