
Overview
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 Delayed Growth. Her top areas of expertise are Spondyloepimetaphyseal Dysplasia Strudwick Type, Greenberg Dysplasia, Blepharophimosis, and Early Infantile Epileptic Encephalopathy.
Her clinical research consists of co-authoring 105 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 2 articles in the study of Delayed Growth.
Insurance
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Accepted insurance plans:
- EPO
- HMO
- POS
- PPO
- HMO
- POS
- PPO
- EPO
- HMO
- PPO
- INSURANCE PLAN
- MEDICARE PDP
- PPO
- HMO
- POS
- PPO
- HMO
- INDEMNITY
- POS
- PPO
Locations
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. 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 a Distinguished provider by MediFind in the treatment of Delayed Growth. Her top areas of expertise are Methylmalonic Acidemia, Propionic Acidemia, Infantile Neutropenia, Progressive External Ophthalmoplegia, and Gastrostomy.
Giovanni Impeduglia is a Pediatrics provider in Silver Spring, Maryland. Dr. Impeduglia is rated as an Advanced provider by MediFind in the treatment of Delayed Growth. His top areas of expertise are Obesity in Children, Delayed Growth, Stork Bite, and Vascular Birthmark. Dr. Impeduglia is currently accepting new patients.
JHCP Remington
Dr. Chana Richter is a pediatrician at the Kennedy Krieger Institute, with a focus in developmental disabilities. She works at the Center for Autism and Related Disorders, primarily focusing on new diagnosis of Autism Spectrum Disorders. Dr. Richter received her Bachelors in Science from Touro University/Lander College of Arts and Sciences, and completed her Masters in Education and Special Education through Touro as well. She taught children of varying ages and abilities, and was the Assistant Director of a school for children with special needs for several years. Dr. Richter studied medicine at the Sackler School of Medicine at Tel Aviv University. She completed residency in Pediatrics at the Johns Hopkins Hospital and focused training in the diagnosis and care of children with autism at the Kennedy Krieger Institute. Her current focus is bridging the gap to diagnosis of autism and initiation of supportive treatment, as well identifying barriers to diagnosis. Dr. Richter is rated as an Advanced provider by MediFind in the treatment of Delayed Growth. Her top areas of expertise are Autism Spectrum Disorder, Delayed Growth, and Developmental Dysphasia Familial.
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
- Elite
- Spondyloepimetaphyseal Dysplasia Strudwick TypeDr. De Macena Sobreira isElite. Learn about Spondyloepimetaphyseal Dysplasia Strudwick Type.
- Distinguished
- BlepharophimosisDr. De Macena Sobreira isDistinguished. Learn about Blepharophimosis.
- Early Infantile Epileptic EncephalopathyDr. De Macena Sobreira isDistinguished. Learn about Early Infantile Epileptic Encephalopathy.
- Greenberg DysplasiaDr. De Macena Sobreira isDistinguished. Learn about Greenberg Dysplasia.
- Advanced
- Achalasia Microcephaly SyndromeDr. De Macena Sobreira isAdvanced. Learn about Achalasia Microcephaly Syndrome.
- Acrofacial Dysostosis Rodriguez TypeDr. De Macena Sobreira isAdvanced. Learn about Acrofacial Dysostosis Rodriguez Type.
- Acrofrontofacionasal Dysostosis SyndromeDr. De Macena Sobreira isAdvanced. Learn about Acrofrontofacionasal Dysostosis Syndrome.
- Brachydactyly Mononen TypeDr. De Macena Sobreira isAdvanced. Learn about Brachydactyly Mononen Type.
- Cardiomyopathy Hypogonadism Metabolic AnomaliesDr. De Macena Sobreira isAdvanced. Learn about Cardiomyopathy Hypogonadism Metabolic Anomalies.
- ChondrodystrophyDr. De Macena Sobreira isAdvanced. Learn about Chondrodystrophy.
- Experienced
- AchondroplasiaDr. De Macena Sobreira isExperienced. Learn about Achondroplasia.
- AcrocephalopolydactylyDr. De Macena Sobreira isExperienced. Learn about Acrocephalopolydactyly.
- Acromicric DysplasiaDr. De Macena Sobreira isExperienced. Learn about Acromicric Dysplasia.
- AniridiaDr. De Macena Sobreira isExperienced. Learn about Aniridia.
- Anophthalmia Plus SyndromeDr. De Macena Sobreira isExperienced. Learn about Anophthalmia Plus Syndrome.
- Apert SyndromeDr. De Macena Sobreira isExperienced. Learn about Apert Syndrome.

