Dr. Hugh Calkins is the Catherine Ellen Poindexter Professor of Cardiology and Director of the Electrophysiology Laboratory and Arrhythmia Service at the Johns Hopkins Hospital. He is an internationally recognized expert on catheter ablation, atrial fibrillation, syncope, arrhythmogenic right ventricular dysplasia (ARVD) and arrhythmia management. Dr. Calkins attended Williams College and Harvard Medical School before training in medicine at Massachusetts General Hospital. He received his cardiology training at Johns Hopkins. His first faculty position was at the University of Michigan, where he directed the Pacemaker Service, and he returned to Johns Hopkins as director of the Arrhythmia Service in 1992. Dr. Calkins is an Associate Editor of the Journal of Cardiovascular Electrophysiology and is on the editorial board of many other cardiology journals. He is a former member of the American Board of Internal Medicine Electrophysiology Boards Test Writing Committee. Dr. Calkins is a fellow of the American College of Cardiology, the American Heart Association and the Heart Rhythm Society. He led a 44-member international task force whose 2012 Expert Consensus Statement gave recommendations for treatment and research of atrial fibrillation. Dr Calkins is a past president of the Heart Rhythm Society and was elected to be a member of the Miler Coulsen Academy of Clinical Excellence in 2014. Dr. Calkins has published more than 500 articles and book chapters on a large variety of cardiac arrhythmias. His research has focused predominantly on catheter ablation, atrial fibrillation, syncope, and arrhythmogenic right ventricular dysplasia. Dr. Calkins has also written extensively on most aspects of heart rhythm disorders and their treatment. Dr. Calkins is rated as an Experienced provider by MediFind in the treatment of Cardiomyopathic Lentiginosis. His top areas of expertise are Atrial Fibrillation, Arrhythmias, Cardiomyopathy, Cardiac Ablation, and Heart Transplant.

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

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 Cardiomyopathic Lentiginosis. Her top areas of expertise are Cerebral Palsy, Gastroparesis, Orbital Cellulitis, and Sickle Cell Disease.

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

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

Carissa Baker is a Pediatric Cardiologist in Baltimore,, Maryland. Dr. Baker is rated as an Experienced provider by MediFind in the treatment of Cardiomyopathic Lentiginosis. Her top areas of expertise are Homozygous Familial Hypercholesterolemia (HoFH), High Cholesterol, Heart Murmurs, and Hypertension.

Heather Riordan is a Pediatric Neurologist in Baltimore, Maryland. Dr. Riordan is rated as an Experienced provider by MediFind in the treatment of Cardiomyopathic Lentiginosis. Her top areas of expertise are Cerebral Palsy, Focal Dystonia, Transient Tic Disorder, Spastic Diplegia Infantile Type, and Rhizotomy.

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

Neha Vyas is a Pediatric Endocrinologist in Baltimore, Maryland. Dr. Vyas is rated as an Experienced provider by MediFind in the treatment of Cardiomyopathic Lentiginosis. Her top areas of expertise are Type 1 Diabetes (T1D), Short Stature (Growth Disorders), Precocious Puberty, and Familial Short Stature (FSS).

Debra Counts is a Pediatric Endocrinologist and an Endocrinologist in Baltimore, Maryland. Dr. Counts is rated as an Experienced provider by MediFind in the treatment of Cardiomyopathic Lentiginosis. Her top areas of expertise are Idiopathic Short Stature (ISS), Short Stature (Growth Disorders), Klinefelter Syndrome, and Pediatric Growth Hormone Deficiency. Dr. Counts is currently accepting new patients.

Ryan Miller is a Pediatric Endocrinologist in Baltimore, Maryland. Dr. Miller is rated as an Experienced provider by MediFind in the treatment of Cardiomyopathic Lentiginosis. His top areas of expertise are Short Stature (Growth Disorders), Idiopathic Short Stature (ISS), Familial Short Stature (FSS), and Precocious Puberty.

Elizabeth Parker is a Pediatric Endocrinologist in Annapolis, Maryland. Dr. Parker is rated as an Experienced provider by MediFind in the treatment of Cardiomyopathic Lentiginosis. Her top areas of expertise are Short Stature (Growth Disorders), Familial Short Stature (FSS), Idiopathic Short Stature (ISS), and Precocious Puberty.

Sheena Moorthy is a primary care provider, practicing in Internal Medicine in Baltimore, Maryland. Dr. Moorthy is rated as an Experienced provider by MediFind in the treatment of Cardiomyopathic Lentiginosis. Her top areas of expertise are Acute Kidney Failure, Macroglossia, Gitelman Syndrome, and Peptic Ulcer.

Sara Di Vall is a Pediatric Endocrinologist in Baltimore, Maryland. Dr. Di Vall is rated as an Experienced provider by MediFind in the treatment of Cardiomyopathic Lentiginosis. Her top areas of expertise are Congenital Hypothyroidism, Short Stature (Growth Disorders), Idiopathic Short Stature (ISS), and Familial Short Stature (FSS).

Pim Suwannarat is a Medical Genetics specialist and a Pediatrics provider in Suitland, Maryland. Dr. Suwannarat is rated as an Experienced provider by MediFind in the treatment of Cardiomyopathic Lentiginosis. Her top areas of expertise are Triple X Syndrome, Classic Galactosemia, Ehlers-Danlos Syndrome (EDS), and Chromosome 10q Deletion. Dr. Suwannarat is currently accepting new patients.

Gabriele Richard is a Medical Genetics provider in Gaithersburg, Maryland. Dr. Richard is rated as an Experienced provider by MediFind in the treatment of Cardiomyopathic Lentiginosis. Her top areas of expertise are Naegeli-Franceschetti-Jadassohn Syndrome, Chondrodysplasia Punctata with Steroid Sulfatase Deficiency, Microphthalmia, and Cortical Dysplasia.