Overview
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 Ptosis. Her top areas of expertise are Methylmalonic Acidemia, Maple Syrup Urine Disease, Ornithine Transcarbamylase Deficiency, Phenylketonuria (PKU), and Deep Brain Stimulation.
Her clinical research consists of co-authoring 83 peer reviewed articles and participating in 1 clinical trial. MediFind looks at clinical research from the past 15 years. In particular, she has co-authored 1 article in the study of Ptosis.
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- HMO
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- MEDICARE PDP
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- INDEMNITY
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- HMO
- MANAGED MEDICAID PLAN
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- OTHER MANAGED MEDICAID
- OTHER MEDICAID
- STATE MEDICAID
- INSURANCE PLAN
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- MEDICARE MAPD
- MEDICARE PDP
- MEDICARE SNP
- MEDICARE-MEDICAID PLAN
- OTHER MEDICARE PART D
- EPO
- HMO
- POS
- PPO
- EPO
- HMO
- INSURANCE PLAN
- MANAGED MEDICAID PLAN
- MEDICARE MAPD
- MEDICARE PDP
- MEDICARE SNP
- MEDICARE-MEDICAID PLAN
- OTHER MEDICARE
- OTHER MEDICARE PART D
Locations
200 North Wolfe Street, Rubenstein BLDG Lower Level, Rubenstein BLDG Lower Level, Baltimore, MD 21287
Clinical Research
Clinical research consists of overseeing clinical studies of patients undergoing new treatments and therapies, and publishing articles in peer reviewed medical journals. Providers who actively participate in clinical research are generally at the forefront of the fields and aware of the most up-to-date advances in treatments for their patients.
1 Clinical Trials
Maximilian Muenke is a Medical Genetics provider in Bethesda, Maryland. Dr. Muenke is rated as a Distinguished provider by MediFind in the treatment of Ptosis. His top areas of expertise are Holoprosencephaly, Turner Syndrome, Craniosynostosis, and Corpus Callosum Agenesis.
Karin Weiss is a Pediatrics provider in Bethesda, Maryland. Dr. Weiss is rated as an Advanced provider by MediFind in the treatment of Ptosis. Her top areas of expertise are Increased Head Circumference, Ulnar-Mammary Syndrome, Gaucher Disease Type 2, Micrognathia, and Orchiectomy.
The Johns Hopkins Hospital
Jefferson Doyle, M.D., Ph.D., M.H.S. specializes in pediatric ophthalmology and genetic eye diseases and is the recipient of the 2023 Andreas C. Dracopoulos & Daniel Finkelstein, M.D. Rising Professorship in Ophthalmology. His main focus is pediatric and juvenile forms of cataracts, glaucoma, anterior segment dysgenesis, and ectopia lentis. His genetics interests include Marfan syndrome and related connective tissue disorders, complex inherited forms of strabismus in both children and adults (e.g. CFEOM, Duane syndrome), and pediatric retinal dystrophies. Dr. Doyle has published extensively on a number of genetic disorders over the past decade, holds several patents for novel therapeutic approaches to treat them, and has given many national and international talks about them. Dr. Doyle's main research focus is understanding the genetic causes and molecular mechanisms driving genetic diseases, and utilizing that knowledge to develop new therapeutic strategies for them. Over the past decade, he has played a significant role in advancing our understanding of Marfan syndrome and related connective tissue disorders. His work and that of collaborators has led to the discovery of the genetic causes of Shprintzen-Goldberg syndrome and Loeys-Dietz like syndrome. His work has also led to a much better understanding of the molecular mechanisms driving Marfan syndrome, and he holds two patents for novel therapeutic strategies to treat it. Part of his current work focuses on the identification of genes that protect people from developing a number of genetic disorders, and leveraging that knowledge to develop new therapies for those diseases. He also has an interest in pediatric myopia, and has ongoing pre-clinical studies seeking to understand the mechanisms that may drive it and the development of novel therapeutic strategies to treat it. Recent News Articles and Media Coverage A Center for Genetic Eye Disease, Wilmer Insider (Oct. 2021). Dr. Doyle is rated as an Advanced provider by MediFind in the treatment of Ptosis. His top areas of expertise are Duane-Radial Ray Syndrome, Ehlers-Danlos Syndrome (EDS), Vascular Ehlers-Danlos Syndrome (VEDS), and Strabismus.
Areas of Expertise
MediFind evaluates expertise by pulling from factors such as number of articles a doctor has published in medical journals, participation in clinical trials, speaking at industry conferences, prescribing and referral patterns, and strength of connections with other experts in their field.
Learn more about MediFind’s expert tiers
- Distinguished
- Maple Syrup Urine DiseaseDr. Hamosh isDistinguished. Learn about Maple Syrup Urine Disease.
- Methylmalonic AcidemiaDr. Hamosh isDistinguished. Learn about Methylmalonic Acidemia.
- Ornithine Transcarbamylase DeficiencyDr. Hamosh isDistinguished. Learn about Ornithine Transcarbamylase Deficiency.
- Advanced
- Acrofacial Dysostosis Rodriguez Type
- Acrofrontofacionasal Dysostosis Syndrome
- BlepharophimosisDr. Hamosh isAdvanced. Learn about Blepharophimosis.
- Carbamoyl Phosphate Synthetase 1 Deficiency
- CitrullinemiaDr. Hamosh isAdvanced. Learn about Citrullinemia.
- Crouzon SyndromeDr. Hamosh isAdvanced. Learn about Crouzon Syndrome.
- Experienced
- 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency
- Achalasia Microcephaly SyndromeDr. Hamosh isExperienced. Learn about Achalasia Microcephaly Syndrome.
- AniridiaDr. Hamosh isExperienced. Learn about Aniridia.
- Arginase DeficiencyDr. Hamosh isExperienced. Learn about Arginase Deficiency.
- Argininosuccinic AciduriaDr. Hamosh isExperienced. Learn about Argininosuccinic Aciduria.
- Autism Spectrum DisorderDr. Hamosh isExperienced. Learn about Autism Spectrum Disorder.