Friday, June 9, 2023
June Data Sharing and Reuse Seminar
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.
About the Seminar Series
The seminar is open to the public and registration is required each month. Individuals who need interpreting services and/or other reasonable accommodations to participate in this event should contact Danielle Johnikin at 301-670-4990. Requests should be made at least five days in advance of the event.
The National Institutes of Health (NIH) Office of Data Science Strategy hosts this seminar series to highlight exemplars of data sharing and reuse on the second Friday of each month at noon ET. The monthly series highlights researchers who have taken existing data and found clever ways to reuse the data or generate new findings. A different NIH institute or center will also share its data science activities each month.