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 Advanced provider by MediFind in the treatment of Dubowitz Syndrome. 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 Dubowitz Syndrome.
Insurance
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Accepted insurance plans:
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- EPO
- HMO
- PPO
- INSURANCE PLAN
- MEDICARE PDP
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- INDEMNITY
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- EPO
- POS
- PPO
- HMO
- MANAGED MEDICAID PLAN
- MEDICARE MAPD
- MEDICARE-MEDICAID PLAN
- OTHER MANAGED MEDICAID
- OTHER MEDICAID
- STATE MEDICAID
- INSURANCE PLAN
- MANAGED MEDICAID PLAN
- 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
Rubenstein Child Health Building
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 Dubowitz Syndrome. Her top areas of expertise are Spondyloepimetaphyseal Dysplasia Strudwick Type, Greenberg Dysplasia, Blepharophimosis, and Early Infantile Epileptic Encephalopathy.
Nancy Braverman is a Medical Genetics specialist and a Pediatrics provider in Baltimore, Maryland. Dr. Braverman is rated as an Elite provider by MediFind in the treatment of Dubowitz Syndrome. Her top areas of expertise are Zellweger Syndrome, Chondrodysplasia Punctata Syndrome, X-Linked Chondrodysplasia Punctata 2, and Acromesomelic Dysplasia.
Leslie Biesecker is a Medical Genetics specialist and a Pediatrics provider in Bethesda, Maryland. Dr. Biesecker is rated as an Elite provider by MediFind in the treatment of Dubowitz Syndrome. His top areas of expertise are Proteus Syndrome, Proteus-Like Syndrome, Acromicric Dysplasia, and Lenz Microphthalmia Syndrome.
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.