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 a Distinguished provider by MediFind in the treatment of Early Infantile Epileptic Encephalopathy. Her top areas of expertise are Spondyloepimetaphyseal Dysplasia Strudwick Type, Greenberg Dysplasia, Blepharophimosis, and Early Infantile Epileptic Encephalopathy.

Dr. Harry “Hal” Dietz is a professor of pediatrics, an associate professor of medicine and an assistant professor of neurological surgery at the Johns Hopkins University School of Medicine. He is the Victor A. McKusick Professor of Genetics and also serves as the director of the William S. Smilow Center for Marfan Syndrome Research. Recognized as the world’s leading authority on Marfan syndrome, Dr. Dietz conducted genomic mapping and research on therapeutic agents for deficiencies in the genetic protein fibrillin, which is linked to Marfan syndrome. His research contributions have made diagnosis of the condition patient-specific and accurate. He has received more than 50 national and international awards and honors, including the Antoine Marfan Award from the National Marfan Foundation and the Art of Listening Award from the American Heart Association. Dr. Dietz is an ad hoc reviewer for 19 different organizations, including the American Journal of Cardiology, the Archives of Pediatric and Adolescent Medicine, and the Journal of Clinical Investigation. Over more than two decades, Dr. Dietz has mentored 75 predoctoral and postdoctoral researchers. He has authored 282 original publications in peer-reviewed journals, 25 textbook chapters, and 239 abstracts, and has also delivered more than 440 lectures on Marfan syndrome and related genetic disorders. Dr. Dietz completed his B.S. at Duke University and received his M.D. from the SUNY Upstate School of Medicine. He completed a pediatric residency and a cardiology fellowship at Johns Hopkins University before joining the faculty in 1992. Dr. Dietz is rated as an Advanced provider by MediFind in the treatment of Early Infantile Epileptic Encephalopathy. His top areas of expertise are Caudal Duplication, Neu Laxova Syndrome, Early Infantile Epileptic Encephalopathy, and Cardiomyopathy Hypogonadism Metabolic Anomalies.

Dr. Ada Hamosh is the Dr. Frank V. Sutland Professor of Pediatric Genetics in the Departments of Genetic Medicine and Pediatrics. Since 2002, she has served as clinical director of the McKusick-Nathans Institute of Genetic Medicine, now Department of Genetic Medicine and scientific director of the Online Mendelian Inheritance in Man® (OMIM), a catalog of more than 16,800 human genes and genetic disorders created by Dr. Victor A. McKusick. Her research centers the molecular basis of Mendelian disorders, the integration of genetics into clinical practice and the diagnosis and management of inborn errors of metabolism. Dr. Hamosh earned a bachelor’s degree in biology from Wesleyan University, a medical degree from Georgetown University School of Medicine and a master’s of public health from Johns Hopkins University School of Public Health. She later completed a fellowship in medical and biochemical genetics from the Johns Hopkins School of Medicine, before joining the Johns Hopkins faculty in 1992. Dr. Hamosh began her genetics career focusing on cystic fibrosis, serving as coordinator of the International Cystic Fibrosis Genotype-Phenotype Consortium. She served as chair of the Maryland State Advisory Council for Hereditary & Congenital Disorders from 2001-2009, during which time she also served on the executive committee of the Genetic Counseling Training Program, run by Johns Hopkins University and the National Human Genome Research Institute. Dr. Hamosh has authored more than 128 publications on a variety of topics. In addition, she is a member of 16 professional associations and advisory committees including the American Society of Human Genetics, the Steering Committee of the Global Alliance for Genomics and Health, and the executive board of the Human Genome Organization, of which she will be President from 2023-2025. Dr. Hamosh was recognized in Baltimore magazine as one of the region’s top doctors in 2013, and 2016-2020. Dr. Hamosh is rated as an Advanced provider by MediFind in the treatment of Early Infantile Epileptic Encephalopathy. Her top areas of expertise are Methylmalonic Acidemia, Maple Syrup Urine Disease, Ornithine Transcarbamylase Deficiency, Phenylketonuria (PKU), and Deep Brain Stimulation.

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 Experienced provider by MediFind in the treatment of Early Infantile Epileptic Encephalopathy. 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.

Dr. Probasco is a professor at the Johns Hopkins University School of Medicine Department of Neurology. He is the Vice Chair for Quality, Safety, and Service for the department. He also serves as the Director of the Johns Hopkins Division of Advanced Clinical Neurology as well as the Medical Director of the Johns Hopkins Inpatient General Neurology Service. He co-directs the Johns Hopkins Encephalitis Center and the Johns Hopkins Center for Refractory Status Epilepticus and Neuroinflammation. He cares for general neurology inpatients and outpatients, specializing in autoimmune and paraneoplastic syndromes as well as neurological immune-related adverse events following immunotherapies for cancer. After completing his undergraduate studies in biochemistry at the University of New Mexico, Dr. Probasco attended the University of Oxford as a Rhodes Scholar and earned a second undergraduate degree in psychology, philosophy and physiology. He went on to earn his medical degree at the University of California, San Francisco. He completed an internship in internal medicine at Johns Hopkins Bayview Medical Center and a residency in neurology at Johns Hopkins, where he was the faculty liaison/executive chief resident. He went on to complete an instructorship in inpatient general neurology at Johns Hopkins. Dr. Probasco’s research interests include increasing care value through improving outcomes, incorporation of patient experience of disease and treatment, the efficiency of care delivery, and diagnostic test utilization in general and specifically in relation to autoimmune and paraneoplastic neurological syndromes, including encephalitis. Finally, he is interested in the management of neurological immune-related adverse events following immunotherapies for the treatment of cancer. Dr. Probasco has been recognized at the departmental, institutional, and national levels for teaching and clinical excellence, including the American Academy of Neurology’s A.B. Baker Teacher Recognition Award and the Frank L. Coulson, Jr. Award from the Johns Hopkins Medicine Miller-Coulson Academy of Clinical Excellence. He is a past graduate of the Johns Hopkins Armstrong Institute Resident Scholars (AIRS) program in Patient Safety and Quality. As a faculty member, he was inducted into the Miller-Coulson Academy of Clinical Excellence in 2019. He serves as Editor-in-Chief of NEJM Journal Watch Neurology. Videos The impact of COVID-19 on the Department of Neurology‚Äôs clinical care and medical education programs. Dr. Probasco is rated as an Experienced provider by MediFind in the treatment of Early Infantile Epileptic Encephalopathy. His top areas of expertise are Encephalitis, Anti-NMDA Receptor Encephalitis, Status Epilepticus, Creutzfeldt-Jakob Disease, and Gastrostomy.

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 Early Infantile Epileptic Encephalopathy. His top areas of expertise are Adrenoleukodystrophy (ALD), CACH Syndrome, Zellweger Syndrome, and Leukodystrophy.

Eugene Park is a Dermatologist in Baltimore, Maryland. Dr. Park is rated as an Experienced provider by MediFind in the treatment of Early Infantile Epileptic Encephalopathy. Her top areas of expertise are Yunis-Varon Syndrome, Nevoid Basal Cell Carcinoma Syndrome, Scalp-Ear-Nipple Syndrome, and Acrodermatitis Enteropathica.

Dr. Grant Anhalt is a professor of dermatology at the Johns Hopkins University School of Medicine. His areas of clinical expertise include autoimmune skin diseases and dermatoimmunology. Dr. Anhalt serves as the director of the Dermatoimmunology Laboratory at the Johns Hopkins School of Medicine. He received his undergraduate degree and his M.D. from the University of Manitoba. He completed a residency in internal medicine at the Health Sciences Center in Winnipeg, Canada and a residency in dermatology at the University of Michigan. He performed a fellowship in immunodermatology at the University of Michigan Medical Center. Dr. Anhalt joined the Johns Hopkins faculty in 1982. He was interim chair of the Department of Dermatology from 1996 to 2001. His research interests include autoimmunity, bullous skin diseases and pemphigus and pemphigoid. Dr. Anhalt serves on the medical advisory board for the International Pemphigus & Pemphigoid Foundation. He has been recognized as a top doctor in the Washington Post Magazine, Baltimore Magazine and Castle Connolly Guide. He is a member of several professional organizations, including the American Academy of Dermatology, American Dermatologic Association and American Society for Clinical Investigation. CV http://www.hopkinsmedicine.org/dermatology/our_experts/CV/Anhalt_CV_2014.docx. Dr. Anhalt is rated as an Experienced provider by MediFind in the treatment of Early Infantile Epileptic Encephalopathy. His top areas of expertise are Pemphigus Vulgaris, Pemphigus, Pemphigus Foliaceus, and Bullous Pemphigoid.

Heather Brown is a Palliative Medicine provider in Baltimore, Maryland. Dr. Brown is rated as an Experienced provider by MediFind in the treatment of Early Infantile Epileptic Encephalopathy. Her top areas of expertise are Wildervanck Syndrome, Early Infantile Epileptic Encephalopathy, Microcephaly Deafness Syndrome, and CHARGE Syndrome.

Dr. Elrick specializes in the care of children with neuromuscular disorders, and EMG studies in children and adults. He has special interests in genetic neuromuscular and neurodegenerative disorders and Acute Flaccid Myelitis. Dr. Elrick earned his M.D. and Ph.D. in Neuroscience at the University of Michigan Medical School, studying inherited neurodegenerative disorders of childhood. He completed residency training in Pediatrics and Child Neurology, followed by a fellowship in Neuromuscular Medicine and Johns Hopkins before joining the faculty in 2019. Dr. Elrick's laboratory research interest is in understanding mechanisms of neurodegenerative disease, especially those affecting motor neurons. He studies disorders caused by genetic mutations in the nuclear pore complex, the main pathway for transport of material in and out of the nucleus of the cell, including Triple A Syndrome. He also participates in clinical research on Acute Flaccid Myelitis (AFM), aimed at understanding susceptibility to AFM in children, and defining clinical and EMG characteristics of illness and recovery in AFM. Dr. Elrick is rated as an Experienced provider by MediFind in the treatment of Early Infantile Epileptic Encephalopathy. His top areas of expertise are Cramp-Fasciculation Syndrome, Acute Flaccid Myelitis (AFM), Dysferlinopathy, and Duchenne Muscular Dystrophy.

Dr. Shruti Paranjape attended the University of Pennsylvania and received her M.D. from the University of Pittsburgh. She completed her pediatrics residency and pediatric pulmonology fellowship at Children’s Hospital of Pittsburgh. She has served as the Assistant Director of the CF Center at Children’s Hospital of Pittsburgh. Her awards include the James Sutherland Award for Outstanding Research by a Young Investigator. Dr. Paranjape is rated as an Experienced provider by MediFind in the treatment of Early Infantile Epileptic Encephalopathy. Her top areas of expertise are Cystic Fibrosis, Secondary Immunodeficiency (SID), Newborn Jaundice, and Jaundice.

Dr. Jennifer Pardo Habashi is an assistant professor of pediatrics at the Johns Hopkins University School of Medicine. Her research focuses on cardiology. Dr. Habashi provides genetic cardiology services at the Center for Inherited Heart Disease at the Johns Hopkins Heart and Vascular Institute. She is currently evaluating the effectiveness of medications for the treatment of Marfan syndrome. Dr. Habashi received her undergraduate degree from Brown University. She earned her M.D. from the University of Maryland Medical School. She completed residencies at Montefiore Medical Center and Johns Hopkins. She performed a fellowship in pediatric cardiology at Johns Hopkins. Her work has been recognized with several awards, including a grant from the National Marfan Foundation for her research to help reduce the risks associated with pregnancy for women with Marfan syndrome. Dr. Pardo is rated as an Experienced provider by MediFind in the treatment of Early Infantile Epileptic Encephalopathy. Her top areas of expertise are Congenital Contractural Arachnodactyly, Marfan Syndrome, Arachnodactyly, and Retinopathy Pigmentary Mental Retardation.

Dr. Jaqueline Weissman is an assistant professor in the Department of Neurology, Kennedy Krieger Institute, Department of Pediatrics Johns Hopkins Hospital and Institute of Genomic Medicine at Johns Hopkins Hospital. She is also director of the Center for Tuberous Sclerosis and Related Disorder at Kennedy Krieger Institute. She focuses on genetic and epigenetic causes of neurodevelopmental disorders - particularly intellectual disability - and how specific genetic and epigenetic changes lead to specific neuroanatomic, neurophysiologic and cognitive phenotypes. She is also interested in developing specific cognitive profiles in genetic syndromes as potential outcome measures for trials and to help localize deficits. Currently most of her research is centered around Kabuki Syndrome. Dr. Weissman received her B.A. with. Dr. Harris is rated as an Advanced provider by MediFind in the treatment of Early Infantile Epileptic Encephalopathy. Her top areas of expertise are Borjeson-Forssman-Lehmann Syndrome, Coffin-Lowry Syndrome, Galactosialidosis, and Odontotrichomelic Syndrome.

After completing her bachelors of science degree in biochemistry from the City College of New York (CUNY), Dr. Smith-Hicks entered the Medical Scientist Training Program at Columbia University College of Physicians and Surgeons, where she obtained her M.D., Ph.D. in 2000. She trained in Pediatrics at the Albert Einstein College of Medicine and completed her Neurology and Pediatric Neurology training at the Johns Hopkins University School of Medicine in 2005. Dr. Smith-Hicks trained as a post-doctoral fellow in the Department of Neuroscience at Johns Hopkins University School of Medicine under the guidance of Dr. Paul Worley. She joined the faculty at Kennedy Krieger Institute in 2010 where she now sees patients with Autism Spectrum Disorder and Rett Syndrome, while conducting basic science research exploring disorders of learning and memory. Dr. Smith is rated as an Advanced provider by MediFind in the treatment of Early Infantile Epileptic Encephalopathy. Her top areas of expertise are Rett Syndrome, Ruvalcaba Syndrome, Autism Spectrum Disorder, and Early Infantile Epileptic Encephalopathy.

Eric Mallack is a Pediatric Neurologist and a Neurologist in Baltimore, Maryland. Dr. Mallack is rated as an Advanced provider by MediFind in the treatment of Early Infantile Epileptic Encephalopathy. His top areas of expertise are Adrenoleukodystrophy (ALD), CACH Syndrome, Early Infantile Epileptic Encephalopathy, and Leukodystrophy.

Mihee Bay is a Pediatrics provider in Baltimore, Maryland. Dr. Bay is rated as an Experienced provider by MediFind in the treatment of Early Infantile Epileptic Encephalopathy. Her top areas of expertise are Autism Spectrum Disorder, Delayed Growth, Early Infantile Epileptic Encephalopathy, and CHARGE Syndrome.

Pediatric neurologist Eric Chin, a clinician-scientist with expertise in cerebral palsy and related neurodevelopmental disabilities, directs research at the Phelps Center for Cerebral Palsy at Kennedy Krieger Institute. After earning his medical degree from the University of Tennessee Health Science Center College of Medicine, Dr. Chin completed residency training in pediatrics at Our Lady of the Lake Regional Medical Center in Louisiana and at Penn State Hershey Medical Center. He completed neurodevelopmental disabilities training at Kennedy Krieger Institute, as well as a T32 research fellowship and a National Institute of Neurological Disorders and Stroke NeuroNEXT-supported clinical trials fellowship. Dr. Chin researches brain- and behavior-based pain mechanisms and treatment targets in children and adults with cerebral palsy. Seeking to define the consequences of brain injury patterns across functional domains, he leads ongoing studies combining participant and caregiver input; evaluations of sensation, movement and cognition; and MRI-based assessments of brain structure and function. Ultimately, he hopes to develop evidence-based individualized pain treatment plans that can improve quality of life of individuals with cerebral palsy. Dr. Chin is rated as an Experienced provider by MediFind in the treatment of Early Infantile Epileptic Encephalopathy. His top areas of expertise are Aphantasia, Coach Syndrome, Cerebellar Agenesis, and Lissencephaly 1.

Dr. Comi graduated from SUNY Buffalo School of Medicine and received her training in pediatrics at the Children's Hospital of Buffalo and her child neurology training at Johns Hopkins Medicine. Her clinical specialization is in the treatment of the neurological aspects of Sturge-Weber syndrome and other disorders related to capillary malformation. Dr. Comi's clinical research interests focus on improving the early diagnosis and treatment of brain involvement in Sturge-Weber syndrome in order to prevent ischemic brain injury in affected infants and young children, and on studies to understand what causes Sturge-Weber syndrome. Her laboratory research work deals with the pathogenesis of Sturge-Weber syndrome, recently shown to be caused by a somatic mutation, and on developing new drug targets, screening assays, models and therapeutic strategies for Sturge-Weber syndrome. Her lab group also works on developing better neuroprotective and neuroregenerative responses to brain injury resulting from impaired blood flow to the brain. Dr. Comi is rated as an Experienced provider by MediFind in the treatment of Early Infantile Epileptic Encephalopathy. Her top areas of expertise are Sturge-Weber Syndrome, Parkes Weber Syndrome, Stork Bite, Epilepsy in Children, and Endovascular Embolization.

Sarah Korth, M.D. is an instructor at the Johns Hopkins Department of Physical Medicine and Rehabilitation. She serves as an attending physician at The Johns Hopkins Hospital and the Kennedy Krieger Institute. Dr. Korth’s interests include neuroplasticity of the developing brain, maximizing mobility, spasticity management, neurogenic bowel and bladder management, and a whole-person approach to management of children and adults with congenital conditions, including cerebral palsy and spina bifida. Dr. Korth’s rehabilitation-focused care aims to help people with congenital and acquired disabilities reach their maximum function. Dr. Korth also has an ongoing interest in methods of decreasing health disparities in developing countries. While in medical school, Dr. Korth initiated and developed a sustainable-changes health program called The Paraiso Project in rural Dominican Republic that she actively continues to direct. Dr. Korth is rated as an Experienced provider by MediFind in the treatment of Early Infantile Epileptic Encephalopathy. Her top areas of expertise are Myelomeningocele, Hydrocele, Cerebral Palsy, and Neurogenic Bowel.

I am a pediatric neurologist with expertise in epilepsy and electroencephalography (EEG). My clinical and research interests include genetics of epilepsy, medical management of patients with intractable epilepsy and presurgical evaluation of patients who are candidates for epilepsy surgery. Dr. Gupta is rated as an Experienced provider by MediFind in the treatment of Early Infantile Epileptic Encephalopathy. His top areas of expertise are Seizures, Benign Rolandic Epilepsy, Rett Syndrome, Lennox-Gastaut Syndrome (LGS), and Thrombectomy.