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 Advanced provider by MediFind in the treatment of Camptodactyly Taurinuria. His top areas of expertise are Epicanthal Folds, Strabismus, Brown Syndrome, and Hypotonia.

Daniel Gossett practices in Dallas, Texas. Dr. Gossett is rated as an Experienced provider by MediFind in the treatment of Camptodactyly Taurinuria. His top areas of expertise are Tourette Syndrome, Juvenile Myoclonic Epilepsy, Seizures, and Landau-Kleffner Syndrome. Dr. Gossett is currently accepting new patients.

John De Dios is a Medical Genetics specialist and a Pediatrics provider in Dayton, Ohio. Dr. De Dios is rated as an Advanced provider by MediFind in the treatment of Camptodactyly Taurinuria. His top areas of expertise are Ehlers-Danlos Syndrome (EDS), Camptodactyly Taurinuria, Delayed Growth, and Klinefelter Syndrome.

Kathryn Weaver is a Medical Genetics specialist and a Pediatrics provider in Cincinnati, Ohio. Dr. Weaver is rated as an Advanced provider by MediFind in the treatment of Camptodactyly Taurinuria. Her top areas of expertise are Cardiomyopathic Lentiginosis, Noonan Syndrome, Cardiofaciocutaneous Syndrome, and Lujan Syndrome.

James Lupski is a Pediatrics specialist and a Medical Genetics provider in Houston, Texas. Dr. Lupski is rated as an Advanced provider by MediFind in the treatment of Camptodactyly Taurinuria. His top areas of expertise are Potocki-Lupski Syndrome, Hypotonia, Smith-Magenis Syndrome, and Achalasia Microcephaly Syndrome. Dr. Lupski is currently accepting new patients.

Kristin Herman is a Medical Genetics specialist and a Pediatrics provider in Sacramento, California. Dr. Herman is rated as an Advanced provider by MediFind in the treatment of Camptodactyly Taurinuria. Her top areas of expertise are Brittle Cornea Syndrome, Vascular Ehlers-Danlos Syndrome (VEDS), Musculocontractural Ehlers-Danlos Syndrome (mcEDS), and Hypotonia.

Gabrielle Geddes is a Medical Genetics specialist and a Pediatrics provider in Indianapolis, Indiana. Dr. Geddes is rated as an Advanced provider by MediFind in the treatment of Camptodactyly Taurinuria. Her top areas of expertise are Costello Syndrome, Hemihyperplasia, RASopathies, Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limbs Defects, and Gastrostomy. Dr. Geddes is currently accepting new patients.

Stephanie Sacharow is a Medical Genetics specialist and a Pediatrics provider in Boston, Massachusetts. Dr. Sacharow is rated as an Advanced provider by MediFind in the treatment of Camptodactyly Taurinuria. Her top areas of expertise are Phenylketonuria (PKU), Maternal Hyperphenylalaninemia, Cat Eye Syndrome, and Dihydropteridine Reductase Deficiency. Dr. Sacharow is currently accepting new patients.

Angela Scheuerle is a Pediatrics specialist and a Medical Genetics provider in Dallas, Texas. Dr. Scheuerle is rated as an Advanced provider by MediFind in the treatment of Camptodactyly Taurinuria. Her top areas of expertise are Hennekam Syndrome, Fetal Akinesia Sequence, Hemihyperplasia, and Incontinentia Pigmenti.

Anne Slavotinek is a Medical Genetics specialist and a Pediatrics provider in Cincinnati, Ohio. Dr. Slavotinek is rated as an Advanced provider by MediFind in the treatment of Camptodactyly Taurinuria. Her top areas of expertise are Floating-Harbor Syndrome, Retinopathy Pigmentary Mental Retardation, Bardet-Biedl Syndrome, and Micrognathia. Dr. Slavotinek is currently accepting new patients.

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

Erica Fernandes is a Medical Genetics specialist and a Pediatrics provider in New Hyde Park, New York. Dr. Fernandes is rated as an Experienced provider by MediFind in the treatment of Camptodactyly Taurinuria. Her top areas of expertise are Microcephaly, Chromosome 13q Deletion, Scalp-Ear-Nipple Syndrome, and Snyder-Robinson Syndrome.

David Tegay is a Medical Genetics provider in Great Neck, New York. Dr. Tegay is rated as an Experienced provider by MediFind in the treatment of Camptodactyly Taurinuria. His top areas of expertise are KBG Syndrome, Gaucher Disease, Gaucher Disease Type 2, and Gaucher Disease Type 3.

Linda Rossetti is a Pediatrics specialist and a Medical Genetics provider in Grand Rapids, Michigan. Dr. Rossetti has been practicing medicine for over 10 years and is rated as an Experienced provider by MediFind in the treatment of Camptodactyly Taurinuria. Her top areas of expertise are Smith-Magenis Syndrome, Miller-Dieker Syndrome, Chromosome 6q Duplication, and Chromosome 8p Deletion.

Ria Garg is a Medical Genetics provider in Detroit, Michigan. Dr. Garg is rated as an Experienced provider by MediFind in the treatment of Camptodactyly Taurinuria. Her top areas of expertise are Camptodactyly Fibrous Tissue Hyperplasia Skeletal Dysplasia, Camptodactyly Syndrome Guadalajara Type 1, Camptodactyly Taurinuria, and Camptodactyly Syndrome Guadalajara Type 2.

Yves Lacassie is a Medical Genetics specialist and a Pediatrics provider in New Orleans, Louisiana. Dr. Lacassie is rated as an Experienced provider by MediFind in the treatment of Camptodactyly Taurinuria. His top areas of expertise are Crouzon Syndrome, Learman Syndrome, Ring Chromosome 13, and Multiple Synostoses Syndrome 1.

Elaine Zackai is a Medical Genetics specialist and a Pediatrics provider in Philadelphia, Pennsylvania. Dr. Zackai is rated as an Experienced provider by MediFind in the treatment of Camptodactyly Taurinuria. Her top areas of expertise are Micrognathia, DiGeorge Syndrome, Hardikar Syndrome, Myringotomy, and Gastrostomy.

Karen Gripp is a Medical Genetics provider in Wilmington, Delaware. Dr. Gripp is rated as an Experienced provider by MediFind in the treatment of Camptodactyly Taurinuria. Her top areas of expertise are Costello Syndrome, RASopathies, Noonan Syndrome, and Cardiofaciocutaneous Syndrome.

Ayesha Ahmad is a Medical Genetics specialist and a Pediatrics provider in Traverse City, Michigan. Dr. Ahmad is rated as an Experienced provider by MediFind in the treatment of Camptodactyly Taurinuria. Her top areas of expertise are Pompe Disease, Propionic Acidemia, Von Gierke Disease, and Mucopolysaccharidosis Type 1 (MPS I, Hurler Syndrome). Dr. Ahmad is currently accepting new patients.

Georgianne Arnold is a Medical Genetics specialist and a Pediatrics provider in Philadelphia, Pennsylvania. Dr. Arnold is rated as an Experienced provider by MediFind in the treatment of Camptodactyly Taurinuria. Her top areas of expertise are Phenylketonuria (PKU), Mitochondrial Trifunctional Protein Deficiency, Krabbe Disease, and Inborn Amino Acid Metabolism Disorder.