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

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 Microcephaly. Her top areas of expertise are Microcephaly, Achalasia Microcephaly Syndrome, Gastroschisis, and Cortical Dysplasia.

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

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 Microcephaly. 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.

Travis Ganunis is a Pediatrics provider in Lutherville, Maryland. Dr. Ganunis is rated as an Experienced provider by MediFind in the treatment of Microcephaly. His top areas of expertise are Respiratory Syncytial Virus (RSV) Infection, Croup, Multisystem Inflammatory Syndrome in Children (MIS-C), and Chronic Rhinosinusitis with Nasal Polyps (CRSwNP). Dr. Ganunis 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 Microcephaly. His top areas of expertise are Monkeypox, Severe Acute Respiratory Syndrome (SARS), Microcephaly, and Achalasia Microcephaly Syndrome. Dr. Schwartz is currently accepting new patients.

Denise Batista is a Medical Genetics provider in Baltimore, Maryland. Dr. Batista is rated as an Advanced provider by MediFind in the treatment of Microcephaly. Her top areas of expertise are Achalasia Microcephaly Syndrome, Microcephaly, and Cortical Dysplasia.

Marisa Mendes is a Pediatrics provider in Baltimore, Maryland. Dr. Mendes is rated as an Advanced provider by MediFind in the treatment of Microcephaly. Her top areas of expertise are Achalasia Microcephaly Syndrome, Microcephaly, Pulmonary Alveolar Proteinosis, and Obesity in Children.

Karin Weiss is a Pediatrics provider in Bethesda, Maryland. Dr. Weiss is rated as an Advanced provider by MediFind in the treatment of Microcephaly. Her top areas of expertise are Increased Head Circumference, Ulnar-Mammary Syndrome, Gaucher Disease Type 2, Micrognathia, and Orchiectomy.

Sofia Saenz-Ayala is a Medical Genetics specialist and a Pediatrics provider in Baltimore, Maryland. Dr. Saenz-Ayala is rated as an Advanced provider by MediFind in the treatment of Microcephaly. Her top areas of expertise are Musculocontractural Ehlers-Danlos Syndrome (mcEDS), Ehlers-Danlos Syndrome (EDS), Carnitine Palmitoyltransferase 1 Deficiency, and Carnitine Palmitoyltransferase 2 Deficiency. Dr. Saenz-Ayala is currently accepting new patients.

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 Microcephaly. Her top areas of expertise are Weaver Syndrome, Sotos Syndrome, Kabuki Syndrome, and Marshall-Smith Syndrome.

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 Experienced provider by MediFind in the treatment of Microcephaly. Her top areas of expertise are Methylmalonic Acidemia, Maple Syrup Urine Disease, Ornithine Transcarbamylase Deficiency, Phenylketonuria (PKU), and Deep Brain Stimulation.

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 Microcephaly. Her top areas of expertise are Sturge-Weber Syndrome, Parkes Weber Syndrome, Stork Bite, Epilepsy in Children, and Endovascular Embolization.

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

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

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 Microcephaly. His top areas of expertise are Epilepsy, Seizures, West Syndrome, Endovascular Embolization, and Deep Brain Stimulation.

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 Microcephaly. Her top areas of expertise are Methylmalonic Acidemia, Propionic Acidemia, Infantile Neutropenia, Progressive External Ophthalmoplegia, and Gastrostomy.

Hind Alsharhan is a Medical Genetics provider in Baltimore, Maryland. Dr. Alsharhan is rated as an Experienced provider by MediFind in the treatment of Microcephaly. Her top areas of expertise are ALG3-CDG, Ornithine Transcarbamylase Deficiency, Coenzyme Q Cytochrome C Reductase Deficiency, and Phenylketonuria (PKU).