Peter Crino is a Neurologist in Baltimore, Maryland. Dr. Crino is rated as an Elite provider by MediFind in the treatment of Cortical Dysplasia. His top areas of expertise are Tuberous Sclerosis, Tuberous Sclerosis Complex, Cortical Dysplasia, Increased Head Circumference, and Gastrostomy. Dr. Crino is currently accepting new patients.

William Gahl is a Medical Genetics specialist and a Pediatrics provider in Bethesda, Maryland. Dr. Gahl is rated as a Distinguished provider by MediFind in the treatment of Cortical Dysplasia. His top areas of expertise are Oculocutaneous Albinism Type 2, Hermansky-Pudlak Syndrome, Oculocutaneous Albinism Type 1, Oculocutaneous Albinism, and Deep Brain Stimulation.

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

Dr. Kathuria received his medical degree and completed his radiology residency training from Pt. B.D. Sharma Postgraduate Institute of Medical Sciences in India. To understand the impact of diseases, their prevention and cure at broad population level, he spent two years pursuing a masters in public health at University at Buffalo, SUNY. He then completed three fellowship trainings including diagnostic neuroradiology, interventional neuroradiology and advanced neuroimaging from University of Rochester, NY. He joined Johns Hopkins as a faculty member in April 2008. He went on to complete three fellowship trainings including diagnostic neuroradiology, interventional neuroradiology and advanced neuroimaging from University of Rochester, NY. He then served as a Johns Hopkins faculty member before leaving Johns Hopkins to work in a private practice. Dr. Kathuria has been recognized with awards including the 2010 Best Scientific Exhibit Award at the ASSR Annual Symposium for Percutaneous Technique in Approaching Anterior Epidural Space for Diagnosis and Therapeutic Interventions and a 2007 Certificate of Merit for diffusion tensor imaging and fiber tracking in Wallerian degeneration at the American Roentgen Ray Society Annual Meeting. Dr. Kathuria is rated as an Advanced provider by MediFind in the treatment of Cortical Dysplasia. His top areas of expertise are Herniated Disk, Scoliosis, Familial Porencephaly, Choroid Plexus Cyst, and Vertebroplasty.

Dr. Barañano earned her M.D. and Ph.D. degrees from the Johns Hopkins University School of Medicine, where she also completed residencies in pediatrics and neurology, along with a fellowship in neurogenetics at the Kennedy Krieger Institute. Dr. Barañano is an Associate Professor of Clinical Neurology. She specializes in the diagnosis and management of rare neurogenetic disorders. She has a particular interest in the genetic control and function of the cerebellum and expertise in childhood-onset and inherited ataxias. She is a member of the multidisciplinary Fetal Management group and is available for prenatal consultations. Dr. Barañano's research includes collaborative efforts with the Johns Hopkins Department of Genetic Medicine and the Division of Neurogenetics at the Kennedy Krieger Institute. Dr. Baranano is rated as an Advanced provider by MediFind in the treatment of Cortical Dysplasia. Her top areas of expertise are Hypotonia, Ohdo Syndrome, Say-Barber-Biesecker-Young-Simpson Variant, Focal or Multifocal Malformations in Neuronal Migration, and Hereditary Ataxia.

Sonja Rasmussen, MD, MS is Professor in the Department of Genetic Medicine at Johns Hopkins School of Medicine. She joined Johns Hopkins after 4 years at the University of Florida (UF) College of Medicine and College of Public Health and Health Professions where she served as a Professor in the Departments of Pediatrics, Epidemiology, and Obstetrics and Gynecology and as the Director of UF’s Precision Health Program. Before joining University of Florida in 2018, she served for 20 years at the Centers for Disease Control and Prevention (CDC) in Atlanta, where she held several scientific leadership roles. She served in leadership roles during several CDC responses to public health emergencies, including 2009 H1N1 influenza, H7N9 influenza, Middle East Respiratory Syndrome (MERS), and Zika virus. Dr. Rasmussen is an author on >300 peer-reviewed publications and is the lead editor of The CDC Field Epidemiology Manual, released by Oxford University Press in 2019. Her research interests focus on understanding the effects of infections and medications during pregnancy, genetic and environmental risk factors for birth defects, and morbidity and mortality associated with genetic conditions. Dr. Rasmussen is rated as an Advanced provider by MediFind in the treatment of Cortical Dysplasia. Her top areas of expertise are Microcephaly, Achalasia Microcephaly Syndrome, Gastroschisis, and Cortical Dysplasia.

Dr. Jill A. Fahrner is an assistant professor in the Departments of Genetic Medicine and Pediatrics at the Johns Hopkins University School of Medicine. Her area of clinical expertise is medical genetics. Dr. Fahrner earned her Ph.D. from Johns Hopkins University and her M.D. from the University of North Carolina. She completed pediatrics residency training at Duke University Medical Center. She joined the McKusick-Nathans Institute of Genetic Medicine as a genetic medicine resident in 2009 and completed her training in 2012. She stayed on as chief resident from 2012-2013 and then joined the faculty as an assistant professor in the Department of Pediatrics within the McKusick-Nathans Institute of Genetic Medicine in 2013. Her current primary appointment is Assistant Professor in the Department of Genetic Medicine, where she is Director of the multidisciplinary Epigenetics and Chromatin Clinic. She is a physician-scientist with a long-standing interest in epigenetic mechanisms of disease. Her clinical focus is on caring for individuals with epigenetic and chromatin disorders, specifically Mendelian disorders of the epigenetic machinery, or chromatin modifying disorders. She has seen hundreds of individuals with congenital disorders involving disrupted epigenetics, most of which exhibit neurodevelopmental disabilities and abnormal growth. Her laboratory research is focused on understanding disease mechanisms and developing therapies for select Mendelian disorders of the epigenetic machinery. She is a member of the American Society of Human Genetics (ASHG), having won an ASHG Reviewer’s Choice Abstract Award for her work on growth retardation in Kabuki syndrome 1. She has received a Johns Hopkins School of Medicine Clinician Scientist Award, a Johns Hopkins School of Medicine Musculoskeletal Pilot and Feasibility Award, a William and Ella Owens Medical Research Foundation Award, the Margaret Ellen Nielsen Fellowship Award, and the Alice and YT Chen Travel Award while at Johns Hopkins. She is the recipient of a prestigious Hartwell Foundation Individual Biomedical Research Award and also has ongoing research funding from the National Institutes of Health. Dr. Fahrner is rated as an Advanced provider by MediFind in the treatment of Cortical Dysplasia. Her top areas of expertise are Weaver Syndrome, Sotos Syndrome, Kabuki Syndrome, and Marshall-Smith Syndrome.

Sunil Gupta is a primary care provider, practicing in Internal Medicine in Cumberland, Maryland. Dr. Gupta is rated as an Experienced provider by MediFind in the treatment of Cortical Dysplasia. His top areas of expertise are Hypertension, Familial Hypertension, Glucocorticoid-Remediable Aldosteronism, Craniectomy, and Extracranial-Intracranial Bypass Surgery. Dr. Gupta is currently accepting new patients.

Tesfaye Zelleke is a Neurologist in Silver Spring, Maryland. Dr. Zelleke is rated as an Advanced provider by MediFind in the treatment of Cortical Dysplasia. His top areas of expertise are Epilepsy, Seizures, Cortical Dysplasia, and Absence Seizure.

Peter Libby is a Neuroradiologist and a Radiologist in Salisbury, Maryland. Dr. Libby is rated as an Advanced provider by MediFind in the treatment of Cortical Dysplasia. His top areas of expertise are Bronchogenic Cyst, Gallbladder Disease, Pleurisy, Bone Graft, and Vertebroplasty.

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

Ahmad Marashly is a Pediatric Neurologist and a Neurologist in Baltimore, Maryland. Dr. Marashly is rated as an Advanced provider by MediFind in the treatment of Cortical Dysplasia. His top areas of expertise are Epilepsy, Seizures, Cortical Dysplasia, Status Epilepticus, and Endovascular Embolization. Dr. Marashly is currently accepting new patients.

David Schwartz is a primary care provider, practicing in Internal Medicine in Glen Burnie, Maryland. Dr. Schwartz is rated as an Advanced provider by MediFind in the treatment of Cortical Dysplasia. His top areas of expertise are Monkeypox, Severe Acute Respiratory Syndrome (SARS), Microcephaly, and Achalasia Microcephaly Syndrome. Dr. Schwartz is currently accepting new patients.

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

Monica Pearl is a Radiologist and a Pediatrics provider in Baltimore, Maryland. Dr. Pearl is rated as an Advanced provider by MediFind in the treatment of Cortical Dysplasia. Her top areas of expertise are Increased Head Circumference, Arteriovenous Malformation, Brain Aneurysm, Liver Embolization, and Thrombectomy.

Catherine Chu is the director of the Division of Pediatric Neurology and the John M. Freeman Pediatric Epilepsy Center in the Johns Hopkins Department of Neurology, as well as the vice president of child neurology at the Kennedy Krieger Institute. As a child neurologist, epileptologist and clinical neurophysiologist, Dr. Chu cares for children diagnosed with epilepsy and disorders of the nervous system (neurophysiology). She specializes in electroencephalogram (also known as EEG) analysis, seizure localization, surgical planning and neuromodulation for adult and pediatric patients with difficult to control epilepsy. She is nationally and internationally recognized for her work identifying causes of and treatment options for cognitive dysfunction and seizures in epilepsy and neurodevelopmental disorders. Dr. Chu’s team specializes in identifying and developing tools to detect and understand brain rhythms that support complex cognitive functions throughout development, including how these rhythms are disrupted by seizures and neurodevelopmental disorders. Dr. Chu earned her medical degree and a master’s degree in social anthropology from Harvard University. She completed an internship in pediatrics at Massachusetts General Hospital, and then a residency in neurology and child neurology at Massachusetts General and Brigham and Women’s Hospital. After completing two fellowships at Massachusetts General, one in epilepsy and another in clinical neurophysiology, Dr. Chu earned a master’s degree in medical science, focused on clinical investigation, from Harvard Medical School. Dr. Chu is rated as an Experienced provider by MediFind in the treatment of Cortical Dysplasia. Her top areas of expertise are Benign Rolandic Epilepsy, Epilepsy in Children, Seizures, and Epilepsy.

Jeanne Sheffield is an Infectious Disease specialist and a Neonatologist in Baltimore, Maryland. Dr. Sheffield is rated as an Experienced provider by MediFind in the treatment of Cortical Dysplasia. Her top areas of expertise are Congenital Syphilis, Placenta Previa, Zika Virus Disease, Microcephaly, and Hysterectomy.

Dr. Adam Hartman is an Adjunct Associate Professor of Neurology and Pediatrics at Johns Hopkins School of Medicine. He focuses on treating children with epilepsy, with an emphasis on those whose seizures have not been adequately controlled with medication. He evaluates and manages patients in his clinic who may be candidates for epilepsy surgery, including those with Rasmussen syndrome, brain malformations, and perinatal strokes. Patients who may not be surgery candidates due to inborn errors of metabolism (particularly mitochondrial disorders) also are a special interest for Dr. Hartman. Dr. Hartman is currently a Physician at NINDS/NIH, serving as a Program Director in the Division of Clinical Research. Previously, Dr. Hartman was the Associate Program Director for the Pediatric Neurology Residency at Johns Hopkins Hospital. He also was the Co-Director of the Neurology Intensive Care Nursery and an Attending Physician on the Pediatric Neurology Inpatient Service at Johns Hopkins Hospital. Dr. Hartman’s prior laboratory work was funded by National Institute of Neurological Disorders and Stroke (NIH), Technology Development Corporation (State of Maryland), a Johns Hopkins University School of Medicine Clinician Scientist Award, the Pakula Family, and the Becker Family. Dr. Hartman received his medical degree from Northwestern University Medical School. After completing his residency in Pediatrics in the National Capital Uniformed Services Pediatric Residency Program (National Naval Medical Center, Walter Reed Army Medical Center), he served as a general pediatrician in the US Navy for five years (the last as division head of general pediatrics at Naval Medical Center San Diego). He completed his residency in pediatric neurology and a fellowship in clinical neurophysiology/pediatric epilepsy, both at Johns Hopkins. Dr. Hartman is rated as an Experienced provider by MediFind in the treatment of Cortical Dysplasia. His top areas of expertise are Hemimegalencephaly, Seizures, Epilepsy, and Increased Head Circumference.

Carl E. Stafstrom is a pediatric neurologist, caring for children with epilepsy. Dr. Stafstrom received his medical degree from the University of Washington School of Medicine in Seattle, with residencies at the University of Washington Medical Center and Tufts New England Medical Center, as well as fellowships at Harvard for neurology research and Boston Children’s Hospital in clinical neurophysiology, electroencephalography, and epilepsy. Dr. Stafstrom previously served as Professor of Neurology and Pediatrics at the University of Wisconsin-Madison School of Medicine and Public Health and Chief of Pediatric Neurology at American Family Children’s Hospital at UW Madison. Dr. Stafstrom is rated as an Experienced provider by MediFind in the treatment of Cortical Dysplasia. His top areas of expertise are Epilepsy, Seizures, West Syndrome, Endovascular Embolization, and Deep Brain Stimulation.