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 Advanced provider by MediFind in the treatment of Pelizaeus-Merzbacher Disease. His top areas of expertise are Adrenoleukodystrophy (ALD), CACH Syndrome, Zellweger Syndrome, and Leukodystrophy.

Dr. Fatemi received his medical degree from the Medical University of Vienna, Austria in 1999. After graduation, he served as a researcher and lecturer at the Institute for Medical Chemistry in Vienna and at the Department of Pediatrics at the Vienna General Hospital. He then moved to the United States to pursue a postdoctoral fellowship in neurogenetics and neuroimaging at Johns Hopkins University School of Medicine in 2001. During this initial period, Dr. Fatemi collaborated with a team of scientists and developed new imaging methods in patients with leukodystrophies (rare genetic diseases that affect the brain's white matter) and coordinated an internet-2 based imaging network for these diseases. He then left Kennedy Krieger Institute to train in general pediatrics and then completed a child neurology residency at the Massachusetts General Hospital, an affiliate of Harvard Medical School. Dr. Fatemi returned to the Kennedy Krieger Institute in 2008 as faculty. He is a member of the Child Neurology Society, the International Child Neurology Association, the Society for Neuroscience, the American Academy of Neurology and the International Society for Magnetic Resonance in Medicine. He has served as ad hoc reviewer for the Journals Child Development and American Journal of Neuroradiology. Dr. Fatemi is rated as an Advanced provider by MediFind in the treatment of Pelizaeus-Merzbacher Disease. His top areas of expertise are Adrenoleukodystrophy (ALD), CACH Syndrome, Canavan Disease, and Leukodystrophy.

Dr. Ankur Butala specializes in the care of persons with complex neuropsychiatric conditions, including persons with advanced Parkinson Disease or other movement or neurodegenerative disorders. Upon graduating from a selective Physician-Scientist program at Albany Medical College, he joined the University of Massachusetts in an uncommon residency in both Neurology and Psychiatry. Dual-trained neuropsychiatrists such as Dr. Butala have experience with: Parkinson Disease and atypical Parkinsonism, Huntington Disease, Ataxia, Dystonia, early-onset dementia, traumatic brain injury and chronic traumatic encephalopathy, autism spectrum disorders, medication refractory mood and psychotic disorders, epilepsy and functional neurological disorders. In residency, he developed an interest in circuit models of brain function and how non-pharmacological approaches such as Neuromodulation and brain stimulation may be used to address treatment-resistant conditions. Consequently, he joined Johns Hopkins University School of Medicine as a Clinical and Research Fellow from 2015 to 2018, where he developed a skill set including deep brain stimulation, non-invasive brain stimulation (tDCS), and measurement of eye movements. Currently, Dr. Butala's clinical and research interests are in diagnosing and managing persons with advanced Parkinson's Disease, movement disorders, and neuropsychiatric conditions using neuromodulation, cannabinoids, and entheogens. He has ongoing multidisciplinary collaborations with colleagues at the Whiting School of Engineering - Center of Speech & Language Processing in using Machine-Learning Models and Artificial Intelligence to improve the detection and diagnosis of Movement and Neuropsychiatric disorders. LinkedIn https://www.linkedin.com/in/ankurbutalamd Videos Neurology: Junior Faculty Spotlight. Dr. Butala is rated as an Experienced provider by MediFind in the treatment of Pelizaeus-Merzbacher Disease. His top areas of expertise are Parkinson's Disease, Corticobasal Degeneration, Movement Disorders, Drug Induced Dyskinesia, and Deep Brain Stimulation.

Dr. Ricardo Roda earned a combined MD/PhD degree from University of Rochester and completed an adult neurology residency, followed by a clinical neuromuscular fellowship at Johns Hopkins University School of Medicine. During residency, Dr. Roda developed a special interest in both auto-immune disorders and genetic disorders. Following residency, he spent three years in neurogenetics branch of National Institute of Neurological Disorders and Stroke (NINDS) working with Dr. Craig Blackstone, focusing on the use of the newer DNA sequencing techniques in genetic diagnosis, and in establishing genotype/phenotype correlations neuromuscular disorders. His current clinical interests include developing testing strategies for undiagnosed genetic disorders and myasthenia gravis. Dr. Roda is rated as an Experienced provider by MediFind in the treatment of Pelizaeus-Merzbacher Disease. His top areas of expertise are Spastic Paraplegia Type 7, Hereditary Spastic Paraparesis, Myasthenia Gravis, and Spastic Paraplegia Type 2.

Dr. Hilary Vernon is a Professor of Genetic Medicine and pediatrics at the Johns Hopkins University School of Medicine. She is also an attending physician at Kennedy Krieger Institute. Hilary Vernon has expertise in treating inborn errors of metabolism and mitochondrial disorders. She is the director of the Mitochondrial Care Center at The Johns Hopkins Hospital and the Barth Syndrome Interdisciplinary Clinic at the Kennedy Krieger Institute. Her research interests include understanding intermediary metabolism in Barth syndrome and in disorders of branch chain amino acid metabolism. Dr. Vernon also co-directs the Department of Genetic Medicine Clinical Trials Unit, and is the principal investigator on multiple clinical trials for rare diseases. Dr. Vernon received her medical degree and doctorate from Rutgers University, New Brunswick, New Jersey. She completed residencies in genetics and pediatrics at The Johns Hopkins University, and a fellowship in clinical laboratory biochemical genetics at The Johns Hopkins University. Dr. Vernon was recognized with the 2010 Francis F. Schwentker Award for Excellence in Research at Johns Hopkins University and the 2011 James B. Sidbury Jr. Fellowship in Biochemical Genetics at Johns Hopkins University. Dr. Vernon is rated as an Experienced provider by MediFind in the treatment of Pelizaeus-Merzbacher Disease. Her top areas of expertise are Methylmalonic Acidemia, Propionic Acidemia, Infantile Neutropenia, Progressive External Ophthalmoplegia, and Gastrostomy.

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 Pelizaeus-Merzbacher Disease. Her top areas of expertise are Spondyloepimetaphyseal Dysplasia Strudwick Type, Greenberg Dysplasia, Blepharophimosis, and Early Infantile Epileptic Encephalopathy.

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 Pelizaeus-Merzbacher Disease. Her top areas of expertise are Cerebral Palsy, Gastroparesis, Orbital Cellulitis, and Sickle Cell Disease.

Amena Fine is a Pediatrics provider in Baltimore, Maryland. Dr. Fine is rated as an Experienced provider by MediFind in the treatment of Pelizaeus-Merzbacher Disease. Her top areas of expertise are Adrenoleukodystrophy (ALD), CACH Syndrome, HNRNPH2-Related Disorder, and Leukodystrophy.

Harry Holt is a primary care provider, practicing in Family Medicine in Baltimore, Maryland. Dr. Holt is rated as an Experienced provider by MediFind in the treatment of Pelizaeus-Merzbacher Disease. His top areas of expertise are Maturity Onset Diabetes of the Young, Alexander Disease, Farber Lipogranulomatosis, and CACH Syndrome. Dr. Holt is currently accepting new patients.

Nicoline Schiess is a Neurologist in Baltimore, Maryland. Dr. Schiess is rated as an Experienced provider by MediFind in the treatment of Pelizaeus-Merzbacher Disease. Her top areas of expertise are Multiple Sclerosis (MS), Pelizaeus-Merzbacher Disease, Meningitis, and Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy.

Getinet Kassa is a Neurologist in La Plata, Maryland. Dr. Kassa is rated as an Experienced provider by MediFind in the treatment of Pelizaeus-Merzbacher Disease. His top areas of expertise are Epilepsy, Seizures, Opsoclonus-Myoclonus Syndrome, and Memory Loss. Dr. Kassa is currently accepting new patients.