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Nara Sobreira

Nara Sobreira

Johns Hopkins University
Dr. Sobreira received her medical degree from the Pernambuco University's School of Medicine in 2003. She completed a clinical genetics residency in Sao Paulo – Brazil (UNIFESP) before joining the Human Genetics graduate program at Johns Hopkins (2007 to 2012). This was followed by a one-year postdoc and a two-year clinical genetics fellowship also at Johns Hopkins School of Medicine. She is board certified by the Brazilian Board of Medical Genetics and by the American Board of Medical Genetics and Genomics. Her rigorous clinical training has equipped her to approach her scholarly work with an eye on important patient-related problems. After her clinical genetics fellowship at Hopkins, Dr. Sobreira was recruited to the Genetic Medicine faculty in 2015. Her independent work has focused on the disease mechanisms of enchondromatoses.
She has also been instrumental in the development of public genetic data bases and genetic analytical tools that are highly valuable, widely used, promote disease gene identification and facilitate collaborations. She participated in the development of PhenoDB and developed the PhenoDB analysis module that is in use around the world. Dr. Sobreira is one of the creators of GeneMatcher, the most widely used data sharing platform of rare Mendelian diseases. In addition, she has championed the sharing of gene variant information in genomic databases by developing VariantMatcher.