Nara Lygia Sobreira
Rubenstein Child Health Building
Office
(443) 287-9494
Fax (410) 367-3231 200 North Wolfe Street Rubenstein BLDG Lower Level Baltimore, MD 21287
Primary Specialty
Geneticist
Practice
Rubenstein Child Health Building
Gender
Female
About
Nara Lygia Sobreira
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.Services
Nara Lygia Sobreira offers the services of a Genetic Doctor in Baltimore, MD. A Genetic Doctor is a physician who specializes in genetic problems. A Geneticist performs tests on newborns to screen for genetic disorders.Please call Rubenstein Child Health Building at (443) 287-9494 to schedule an appointment in Baltimore, MD or to get more information.