About this Class

Dr. Nara Sobreira will present "PhenoDB, a phenotypic and genotypic data sharing tool" at the monthly Data Sharing and Reuse Seminar on June 9, 2023, at 12 p.m. EST.

About the Seminar

This seminar will discuss the use of phenotypic and genotypic data sharing tools to facilitate the discovery of novel disease-causing genes and variants.

About the Speaker

Dr. Sobreira, an associate professor at the McKusick-Nathans Department of Genetic Medicine at Johns Hopkins University, will present PhenoDB. Her research focuses on the identification of the genetic etiology of rare Mendelian diseases. To facilitate this work, she has development public genetic databases and genetic analytical tools that are highly valuable and widely used to promote data sharing, 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 created VariantMatcher, for the sharing of gene variant information.

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.