The 20 Best Blepharophimosis Doctors near Baltimore, MD

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 a Distinguished provider by MediFind in the treatment of Blepharophimosis. Her top areas of expertise are Spondyloepimetaphyseal Dysplasia Strudwick Type, Greenberg Dysplasia, Blepharophimosis, and Early Infantile Epileptic Encephalopathy.

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 Blepharophimosis. His top areas of expertise are Spondyloepimetaphyseal Dysplasia Strudwick Type, Micrognathia, Urea Cycle Disorders (UCD), and Spondyloepiphyseal Dysplasia Congenita.

Dr. Joann Bodurtha is a professor of genetic medicine, pediatrics, and oncology at the Johns Hopkins University School of Medicine. Dr. Bodurtha is co-director of the regional genetics network NYMAC, co-director of the Biological Mechanisms theme in the Genes to Society Curriculum, co-director of the BIRCWH Advisory Board, Physician Advisor for the Dept. of Genetic Medicine, a member of the Advisory Committee of the JH-NHGRI Genetic Counseling program, and a member of the Johns Hopkins Medicine Institutional Review Board. She has appointments in the School of Public Health and School of Nursing. Her research focuses on risk communication and interdisciplinary genetic education. Prior to joining Johns Hopkins, Dr. Bodurtha was a professor of human and molecular genetics at VCU, where she had faculty appointments in the Departments of Pediatrics, Obstetrics-Gynecology, and Preventive Medicine and Community Health. She received her B.A. from Swarthmore College and her M.D. and M.P.H. with honors from Yale. After a year of research at the Nagasaki University School of Medicine as a Luce Scholar, she completed her residency in pediatrics at Children’s Hospital of Philadelphia and worked as a USPHS physician on the Turtle Mountain Chippewa Reservation in North Dakota. She completed her medical genetics fellowship at Virginia Commonwealth University (VCU) in 1987. Dr. Bodurtha joined the Johns Hopkins faculty in 2011. At VCU, Dr. Bodurtha helped start the Masters in Genetic Counseling program in 1990 and the Va-LEND (Leadership Education in Neurodevelopmental Disabilities) program in 1995. She served on the American Academy of Pediatrics Committee on Native American Child Health for ten years. She was the Richmond YMCA Woman of the Year in Science and Medicine in 1997. She received the VCU School of Medicine first Innovation in Teaching Award in 1999, the SCHEV Outstanding Faculty Award in 2006, the Genetic Alliance Art of Listening Award in 2008, the AUCD Professional Achievement Award in 2009, and the VCU WISDM Professional Achievement Award in 2010. A member of the Leadership Metro Richmond Class of 2000, she served as president of the WISDM (Women in Science, Dentistry, and Medicine) organization at VCU from 2000 to 2003. She has written more than 150 scientific articles, book chapters, and reviews and supervised more than 100 graduate students. She is committed to improving access to genetic services and helping make all communities be more welcoming. Dr. Bodurtha is rated as an Experienced provider by MediFind in the treatment of Blepharophimosis. Her top areas of expertise are Ehlers-Danlos Syndrome (EDS), Micrognathia, Inborn Renal Aminoaciduria, and Blepharophimosis.

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

Dr. Garry R. Cutting is a Professor of Pediatrics and Medicine in the McKusick-Nathans Institute of Genetic Medicine of the Johns Hopkins University School of Medicine. He is the Aetna/U.S. Healthcare Professor of Medical Genetics at Johns Hopkins. Dr. Cutting received his undergraduate degree in biology and medical degree from the University of Connecticut. He completed residency training in pediatrics and a fellowship in medical genetics at the Johns Hopkins University School of Medicine. Dr. Cutting is the Medical Director of the DNA Diagnostic Laboratory of Johns Hopkins Genomics. He directed the Medical Genetics Residency Program at Hopkins from 1995 to 2004. Dr. Cutting is the recipient of the Paul di Sant’Agnese Distinguished Scientific Achievement Award from the Cystic Fibrosis Foundation and a MERIT award from the National Institutes of Health. He has published more than 160 peer-reviewed articles. Dr. Cutting was elected to the Society of Pediatric Research (1992), the American Society of Clinical Investigation (1995) and the Association of American Physicians (2017). Dr. Cutting’s primary interests lie in the interpretation of DNA variation and their effect upon human phenotypes. Dr. Cutting’s lab focuses on the effect of common and rare variants in the CFTR gene that cause the single gene disorder cystic fibrosis (CF). His lab operates the CFTR2 database, a resource composed of clinical and genetic data on almost 90,000 individuals with CF world-wide. His laboratory also studies the effect of clinically approved and novel modulators upon CFTR protein bearing disease-causing variants. Dr. Cutting’s laboratory is also leader in the identification and characterization of genetic modifiers of cystic fibrosis. His group is currently collaborating with teams at the University of North Carolina and the University of Washington, Seattle to identify common and rare modifier variants of disease severity by whole genome sequencing of 5200 individuals with CF. Dr. Cutting participates in the clinical translation of variant interpretation as the Medical Director of the DNA Diagnostic Laboratory at Johns Hopkins. Finally, as Editor of the journal Human Mutation Dr. Cutting oversees the review and publication of manuscripts reporting the mechanism, distribution and phenotype consequences of variation in our genomes. Dr. Cutting is rated as an Experienced provider by MediFind in the treatment of Blepharophimosis. His top areas of expertise are Exocrine Pancreatic Insufficiency, Sjogren-Larsson Syndrome, Prader-Willi Syndrome, and Pena-Shokeir Syndrome Type 2.

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 Experienced provider by MediFind in the treatment of Blepharophimosis. Her top areas of expertise are Achalasia Microcephaly Syndrome, Microcephaly, Cortical Dysplasia, Gastroschisis, and Knee Replacement.

Sneh Dhannawat is an Ophthalmologist in Baltimore, Maryland. Dr. Dhannawat is rated as an Experienced provider by MediFind in the treatment of Blepharophimosis. Her top areas of expertise are Meibomianitis, Eyelid Bump, Interstitial Keratitis, and Glaucoma.

Allison Jensen is an Ophthalmologist in Towson, Maryland. Dr. Jensen is rated as an Experienced provider by MediFind in the treatment of Blepharophimosis. Her top areas of expertise are Strabismus, Amblyopia, Epicanthal Folds, and Esotropia.

Mark Preslan is an Ophthalmologist in Glen Burnie, Maryland. Dr. Preslan is rated as an Experienced provider by MediFind in the treatment of Blepharophimosis. His top areas of expertise are Strabismus, Amblyopia, X-Linked Infantile Nystagmus, and Esotropia.

Marc Honig is an Ophthalmologist in Owings Mills, Maryland. Dr. Honig is rated as an Experienced provider by MediFind in the treatment of Blepharophimosis. His top areas of expertise are Cataract, Chalazion, Eyelid Bump, and Glaucoma.