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

Reza Kanani is a Neurologist in Columbia, Maryland. Dr. Kanani is rated as an Experienced provider by MediFind in the treatment of CHARGE Syndrome. His top areas of expertise are Cervical Myelopathy, Spinal Tumor, Brain Stem Cancer, and Dysembryoplastic Neuroepithelial Tumors (DNET).

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 CHARGE Syndrome. His top areas of expertise are Caudal Duplication, Neu Laxova Syndrome, Early Infantile Epileptic Encephalopathy, and Cardiomyopathy Hypogonadism Metabolic Anomalies.

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 CHARGE Syndrome. 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. Ranjit Abraham Varghese is an assistant professor of orthopaedic surgery at the Johns Hopkins University School of Medicine. He is a specialist in pediatric orthopaedics. He focuses on the treatment of cerebral palsy, neuromuscular disorders, andpediatric hip and foot disorders. Dr. Varghese earned his medical degree from Kasturba Medical College of Manipal University in Mangalore India, where he also did his residency. He later earned a master’s degree in health science and clinical epidemiology at the University of British Columbia, Canada. He completed fellowships in pediatric orthopaedics at the University of British Columbia and the University of Minnesota. He also completed a combined orthopedics oncology fellowship at Harvard Medical School, Massachusetts General Hospital, Beth Israel Deaconess Medical Center and Boston Children’s Hospital. He serves as medical director of the Ortho-Cerebral Palsy Program at the Kennedy Krieger Institute. His research interests include cerebral palsy, hip disorders and outcome evaluations. Dr. Varghese is rated as an Experienced provider by MediFind in the treatment of CHARGE Syndrome. His top areas of expertise are Spastic Diplegia Infantile Type, Slipped Capital Femoral Epiphysis, Koolen De Vries Syndrome, and Wildervanck Syndrome.

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 Experienced provider by MediFind in the treatment of CHARGE Syndrome. Her top areas of expertise are Weaver Syndrome, Sotos Syndrome, Kabuki Syndrome, and Marshall-Smith Syndrome.

James Black is a Vascular Surgeon in Baltimore, Maryland. Dr. Black is rated as an Experienced provider by MediFind in the treatment of CHARGE Syndrome. His top areas of expertise are Thoracic Aortic Aneurysm, Abdominal Aortic Aneurysm (AAA), Aortic Dissection, Carotid Artery Surgery, and Hernia Surgery.

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

Dr. Malinda Wu is a pediatric endocrinologist seeing patients at the Johns Hopkins Children’s Center in Baltimore, Maryland. She specializes in a wide range of pediatric endocrine conditions including metabolic bone disease, pediatric osteoporosis and cystic fibrosis endocrinopathies. Dr. Wu received her M.D. from Jefferson Medical College, Thomas Jefferson University. She completed pediatrics residency at Penn State Hershey Medical Center and her pediatric endocrine fellowship at Emory University School of Medicine. She received her Master of Science in Clinical Research from Emory University (2021). Dr. Wu has been a faculty member at Johns Hopkins since 2021. Dr. Wu’s research interests are in metabolic bone disease and the health of women with cystic fibrosis. Dr. Wu’s current research is focused on women with cystic fibrosis and how estrogen supplementation may impact their health. She has received grant funding from the Cystic Fibrosis Foundation. Dr. Wu is rated as an Experienced provider by MediFind in the treatment of CHARGE Syndrome. Her top areas of expertise are Osteogenesis Imperfecta, Hypogonadism, Malnutrition, Exocrine Pancreatic Insufficiency, and Hormone Replacement Therapy (HRT).

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 CHARGE Syndrome. 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 CHARGE Syndrome. His top areas of expertise are Adrenoleukodystrophy (ALD), CACH Syndrome, Zellweger Syndrome, and Leukodystrophy.

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 CHARGE Syndrome. Her top areas of expertise are Cystic Fibrosis, Secondary Immunodeficiency (SID), Newborn Jaundice, and Jaundice.

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 CHARGE Syndrome. His top areas of expertise are Cramp-Fasciculation Syndrome, Acute Flaccid Myelitis (AFM), Dysferlinopathy, and Duchenne Muscular Dystrophy.

Carol Greene is a Pediatrics provider in Baltimore, Maryland. Dr. Greene is rated as an Experienced provider by MediFind in the treatment of CHARGE Syndrome. Her top areas of expertise are Musculocontractural Ehlers-Danlos Syndrome (mcEDS), Phenylketonuria (PKU), Increased Head Circumference, and MELAS Syndrome.

Perry Foreman is a Neurologist in Randallstown, Maryland. Dr. Foreman is rated as an Advanced provider by MediFind in the treatment of CHARGE Syndrome. His top areas of expertise are Seizures, Partial Familial Epilepsy, Partial Seizure, Memory Loss, and Gastrostomy.

Aldo Londino is a Pediatric Otolaryngologist and an Otolaryngologist in Baltimore, Maryland. Dr. Londino is rated as an Advanced provider by MediFind in the treatment of CHARGE Syndrome. His top areas of expertise are Enlarged Adenoids, Laryngomalacia, Otitis, and Stridor.

Joyce Evans is a primary care provider, practicing in Family Medicine in Baltimore, Maryland. Dr. Evans is rated as an Experienced provider by MediFind in the treatment of CHARGE Syndrome. Her top areas of expertise are Autonomic Neuropathy, Snyder-Robinson Syndrome, WAGR Syndrome, and Keutel Syndrome.

Tuyet-nhung Nguyen is a primary care provider, practicing in Internal Medicine in Greenbelt, Maryland. Dr. Nguyen is rated as an Experienced provider by MediFind in the treatment of CHARGE Syndrome. Her top areas of expertise are Sickle Cell Disease, Osteonecrosis, Chronic Pain, and Type 2 Diabetes (T2D).

Joseph Savitt is a Neurologist in Baltimore, Maryland. Dr. Savitt is rated as an Experienced provider by MediFind in the treatment of CHARGE Syndrome. His top areas of expertise are Parkinson's Disease, Movement Disorders, Supranuclear Ophthalmoplegia, Supranuclear Ocular Palsy, and Gastrostomy. Dr. Savitt is currently accepting new patients.

John Caccamese is an Oral and Maxillofacial Surgeon and a General Surgeon in Baltimore, Maryland. Dr. Caccamese is rated as an Experienced provider by MediFind in the treatment of CHARGE Syndrome. His top areas of expertise are Osteochondroma, Prognathism, Ludwig Angina, Septoplasty, and Myringotomy. Dr. Caccamese is currently accepting new patients.