Hans Bjornsson is a Medical Genetics specialist and a Pediatrics provider in Baltimore, Maryland. Dr. Bjornsson is rated as an Elite provider by MediFind in the treatment of Kabuki Syndrome. His top areas of expertise are Kabuki Syndrome, Weaver Syndrome, 3MC Syndrome, Coffin-Lowry Syndrome, and Orchiectomy. Dr. Bjornsson 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 a Distinguished provider by MediFind in the treatment of Kabuki Syndrome. Her top areas of expertise are Weaver Syndrome, Sotos Syndrome, Kabuki Syndrome, and Marshall-Smith Syndrome.

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

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

Dr. David Valle is a professor of pediatrics and ophthalmology at the Johns Hopkins School of Medicine and former director of the Johns Hopkins Department of Genetic Medicine. He also serves as a geneticist for the Johns Hopkins Children’s Center. Dr. Valle holds a bachelor’s degree and medical degree from Duke University. He completed a pediatric residency at Johns Hopkins University before joining the Johns Hopkins faculty. He is interested in the genetic contributions to health and disease. He is the founding director of the Johns Hopkins Center for Inherited Disease Research. Over the years, his laboratory has discovered the genetic causation for more than 20 diseases, including those responsible for inborn errors of metabolism, inherited retinal degeneration, disorders of cellular organelle biogenesis and genetic variations that contribute risk for common disorders such as schizophrenia. Dr. Valle also serves as director of the Predoctoral Training Program in Human Genetics, as well as co-director of the Genes to Society program. He was a 2014 recipient of the annual Victor A. McKusick Leadership Award from the American Society of Human Genetics, which recognizes individuals whose professional achievements have fostered and enriched the development of human genetics as well as its assimilation into the broader context of science, medicine and health. Dr. Valle is rated as an Experienced provider by MediFind in the treatment of Kabuki Syndrome. His top areas of expertise are Spondyloepimetaphyseal Dysplasia Strudwick Type, Micrognathia, Urea Cycle Disorders (UCD), and Spondyloepiphyseal Dysplasia Congenita.

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 Kabuki Syndrome. Her top areas of expertise are Borjeson-Forssman-Lehmann Syndrome, Coffin-Lowry Syndrome, Galactosialidosis, and Odontotrichomelic Syndrome.

Sofia Saenz-Ayala is a Medical Genetics specialist and a Pediatrics provider in Baltimore, Maryland. Dr. Saenz-Ayala is rated as an Experienced provider by MediFind in the treatment of Kabuki Syndrome. 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.

Shannon Dean is a Neurologist and a Pediatric Neurologist in Baltimore, Maryland. Dr. Dean is rated as an Experienced provider by MediFind in the treatment of Kabuki Syndrome. Her top areas of expertise are Stereotypic Movement Disorder, Tourette Syndrome, Transient Tic Disorder, and Conversion Disorder.

Miya Asato is a Pediatric Neurologist in Baltimore, Maryland. Dr. Asato is rated as an Experienced provider by MediFind in the treatment of Kabuki Syndrome. Her top areas of expertise are Epilepsy, Autism Spectrum Disorder, Increased Head Circumference, and Seizures.