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

Mari Groves is a Johns Hopkins pediatric neurosurgeon who cares for children with brain and spinal cord tumors (benign and cancerous), skeletal dysplasia, and spinal deformities such as neuromuscular and early scoliosis. She also sees patients diagnosed with Chiari malformations, spasticity and epilepsy. She specializes in treating patients with all types of spina bifida, including myelomeningocele. As part of the Johns Hopkins Center for Fetal Therapy, she is an expert in prenatal closure techniques such as minimally invasive fetoscopic repair of myelomeningocele (when the spina bifida defect is repaired before birth). Offering a transitional practice model of care, she follows patients diagnosed with spina bifida from birth to adulthood. Dr. Groves chose to pursue neurosurgery because it allows her to treat patients with complex conditions and help improve the quality of children’s lives. Her research interests focus on pediatric spinal disease and how surgical intervention can impact growth and neurological function during a child’s life. She is committed to building programs that support patients with congenital disorders as they age. Pediatric patients often age out of existing programs and have difficulty locating physicians and treating teams that understand their conditions. At Johns Hopkins, we have a unique ability to provide this type of comprehensive care. Dr. Groves earned her medical degree from the Vanderbilt University School of Medicine in 2007. She completed residency training in 2014 at The Johns Hopkins Hospital, where she remained for a neurosurgery fellowship, which she finished in 2015. She also completed a spinal deformity fellowship at Shriners Hospitals for Children in Philadelphia. Dr. Groves is rated as a Distinguished provider by MediFind in the treatment of Achondroplasia. Her top areas of expertise are Spinal Tumor, Myelomeningocele, Tethered Cord Syndrome, Osteotomy, and Laminectomy.

Shawn Standard is an Orthopedics provider in Baltimore, Maryland. Dr. Standard is rated as a Distinguished provider by MediFind in the treatment of Achondroplasia. His top areas of expertise are Congenital Femoral Deficiency, Legg-Calve-Perthes Disease (LCPD), Achondroplasia, Absence of Tibia, and Osteotomy. Dr. Standard is currently accepting new patients.

John Herzenberg is an Orthopedics provider in Baltimore, Maryland. Dr. Herzenberg is rated as an Advanced provider by MediFind in the treatment of Achondroplasia. His top areas of expertise are Congenital Femoral Deficiency, Clubfoot, Absence of Tibia, Tenotomy, and Osteotomy.

Philip Mcclure is an Orthopedics specialist and a Pediatric Orthopedics provider in Baltimore, Maryland. Dr. Mcclure is rated as an Advanced provider by MediFind in the treatment of Achondroplasia. His top areas of expertise are Clubfoot, Congenital Femoral Deficiency, Osteolysis Syndrome Recessive, Osteotomy, and Bone Graft. Dr. Mcclure is currently accepting new patients.

Paul Sponseller is an Orthopedics provider in Baltimore, Maryland. Dr. Sponseller is rated as an Advanced provider by MediFind in the treatment of Achondroplasia. His top areas of expertise are Scoliosis, Adolescent Idiopathic Scoliosis, Spastic Diplegia Infantile Type, Spinal Fusion, and Osteotomy. Dr. Sponseller is currently accepting new patients.

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

Dr. Debraj “Raj” Mukherjee’s clinical focus is the treatment of patients with primary and metastatic brain lesions. His clinical work and research emphasize the development of individual treatment plans that optimize survival and quality of life in all patients. After receiving his medical degree from Dartmouth Medical School, Dr. Mukherjee was recruited to Johns Hopkins, where he studied epidemiology, biostatistics and clinical design at the Johns Hopkins Bloomberg School of Public Health and served as Director of the Neuro-Oncology Surgical Outcomes Laboratory in the Department of Neurosurgery. Dr. Mukherjee completed neurosurgery residency at Cedars-Sinai Medical Center, where he was named a Robert Wood Johnson Foundation Health & Society Scholar. He completed an open and endoscopic skull base fellowship with the Center for Skull Base Surgery at University of Pittsburgh Medical Center, where he was a Copeland Scholar. Throughout his career, Dr. Mukherjee has led patient-centered research pursuits in neuro-oncology including development of a national registry for patients with brain tumors, creation of disease-specific quality of life instruments for patients with skull base tumors, and development of innovative clinical trials in neuro-oncology. He leads the Meningioma, Brain Metastasis, and Neurosurgical Oncology centers at Johns Hopkins Medicine, and he serves as Assistant Residency Program Director for one of the largest neurosurgical training programs in the country. His work has been supported by the American Medical Association, Glioblastoma Foundation, National Institute on Aging, and National Cancer Institute. Dr. Mukherjee can be contacted at drraj@jhmi.edu. Dr. Mukherjee is rated as an Experienced provider by MediFind in the treatment of Achondroplasia. His top areas of expertise are Meningioma, Pituitary Tumor, Brain Tumor, Awake Craniotomy, and Laminectomy.

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 Achondroplasia. His top areas of expertise are Epicanthal Folds, Strabismus, Brown Syndrome, and Hypotonia.

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

Dr. Sara Mixter is Assistant Professor of Medicine and Pediatrics at the Johns Hopkins University School of Medicine. Her areas of clinical expertise are internal medicine, pediatrics, and primary care for adults with developmental disabilities and other complex childhood-onset conditions. She is the director of the Hopkins PACT (Pediatric-informed Adult Care and Transition) Clinic. Dr. Mixter is also the medical director of the Pediatric Complex Care Collaborative (PC3) for the Johns Hopkins Children’s Center. Dr. Mixter received her A.B. from Harvard College. She earned her M.D. from Harvard Medical School and M.P.H. from the Harvard School of Public Health. She completed her residency at Johns Hopkins as part of the inaugural group of trainees in the Urban Health Combined Internal Medicine-Pediatrics Residency Program. Her research interests include transitions of care for adolescents with special healthcare needs and education for residents and medical students, especially in primary care and complex care. Dr. Mixter has served as the Assistant Chief of Service for the Longcope firm of the Osler Medical Housestaff Training Program (2015-16), as well as Assistant Program Director for Ambulatory Education (2014-15). Dr. Mixter is rated as an Experienced provider by MediFind in the treatment of Achondroplasia. Her top areas of expertise are Cerebral Palsy, Gastroparesis, Orbital Cellulitis, and Sickle Cell Disease.

Dr. Mark Luciano is the director of the Johns Hopkins Hydrocephalus and Cerebral Fluid Center. A renowned leader in treating hydrocephalus, Dr. Luciano is distinguished both nationally and internationally for his research and educational and clinical work in neuroendoscopy. Dr. Luciano treats adults with hydrocephalus, pseudotumor cerebri, intracranial hypotension, Chiari malformations, and cerebral and spinal cysts. He has significant expertise treating children and adults with cerebrospinal fluid leaks and congenital disorders. Among his accomplishments in neuroscience research and biomedical engineering are his investigation of the cerebrovascular response to hydrocephalus and the invention of a unique device for control of intracranial pressure (ICP) pulsatility to increase blood flow. His National Institutes of Health-funded studies have explored prolonged compression and hypoxia in the brain as a result of hydrocephalus, as well as the interaction between cerebrospinal fluid and vascular systems. Dr. Luciano is rated as an Experienced provider by MediFind in the treatment of Achondroplasia. His top areas of expertise are Hydrocephalus, Normal Pressure Hydrocephalus, Increased Intracranial Pressure, Posterior Fossa Decompression, and Gastrostomy.

Julio Jauregui is an Orthopedics provider in Glen Burnie, Maryland. Dr. Jauregui is rated as an Experienced provider by MediFind in the treatment of Achondroplasia. His top areas of expertise are Congenital Femoral Deficiency, Osteonecrosis, Scaphoid Non-Union, Hip Replacement, and Knee Replacement.

Jignesh Tailor is a General Surgeon and a Neurosurgery provider in Baltimore, Maryland. Dr. Tailor is rated as an Experienced provider by MediFind in the treatment of Achondroplasia. His top areas of expertise are Choroid Plexus Cyst, Hydrocephalus, Hydrocephalus due to Congenital Stenosis of Aqueduct of Sylvius, Rhizotomy, and Awake Craniotomy.

Hemen Shah is a primary care provider, practicing in Internal Medicine in Frederick, Maryland. Dr. Shah is rated as an Experienced provider by MediFind in the treatment of Achondroplasia. His top areas of expertise are Obesity in Children, Glucocorticoid-Remediable Aldosteronism, Hypertension, Colonoscopy, and Ureteroscopy. Dr. Shah is currently accepting new patients.

Bhagat Dhamala is an Orthopedics provider in Baltimore, Maryland. Dr. Dhamala is rated as an Experienced provider by MediFind in the treatment of Achondroplasia. His top area of expertise is Achondroplasia.

Javier Quant-Gonzalez is a primary care provider, practicing in Internal Medicine in Columbia, Maryland. Dr. Quant-Gonzalez is rated as an Experienced provider by MediFind in the treatment of Achondroplasia. His top areas of expertise are Cellulitis, Hypothyroidism, Obesity in Children, and Dementia.

Lauren Perz is a primary care provider, practicing in Family Medicine in Leonardtown, Maryland. Dr. Perz is rated as an Experienced provider by MediFind in the treatment of Achondroplasia. Her top areas of expertise are H1N1 Influenza, Chronic Cough, Parinaud Oculoglandular Syndrome, and Cellulitis. Dr. Perz is currently accepting new patients.