Speaker Profile

MD, PhD, Associate Professor of Pediatrics, Johns Hopkins U.

Biography
Dr. Sobreira received her medical degree from the Pernambuco University 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. Dr. Sobreira was recruited to the Genetic Medicine faculty in 2015. She has 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 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.


 Session Abstract – PMWC 2024 Silicon Valley

Track 2 - January 26 9.00 A.M.-4.00 P.M.


Track Chair:
Gad Getz, Broad Institute

  • PMWC 2024 Luminary Award
    Luminary Honoree: Heidi Rehm, MGH and Broad Institute
  • Opening Talk: The Power of Data by Track Chair Gaddy Getz, Broad Institute
  • Challenges of Remote Data Harmonization and Querying (PANEL)
    Chair: Heidi Rhem, MGH and Broad Institute
    - Chris Lunt, All of Us
    - Simona Carini, UCSF
    - Josh Peterson, Emerge/Vanderbilt University Medical Center
    - Nara Sobreira, Johns Hopkins/GeneMatcher
  • Promoting Global Collaboration for Data Sharing: Overcoming Organizational and Sectoral Barriers (PANEL)
    Chair: Gad Getz, Broad Institute
    - Peter Goodhand, GA4GH
    - Valentina Di Francesco, NHGRI
    - Melanie Courtot, ICGC-ARGO
    - Erica Galvez, Manifest MedEx
  • Keynote: Machine Learning for Therapeutic Discovery
    - Daphne Koller, insitro
  • Exploring the Power of AI and Data Sciences in Drug Discovery (PANEL)
    Chair: Michelle Chen, Insilico Medicine
    - Kim Branson, GSK
    - Laszlo Radvanyi, Ontario Institute for Cancer Research
    - Martin Stumpe, Tempus
    - Sun-Gou Ji, BridgeBio
    - Angela Oliveira Pisco, Insitro
  • Foundation Models to Advance Precision Medicine (PANEL)
    Chair: Nigam Shah, Stanford
    - Aashima Gupta, Google
    - Rod Tarrago, AWS
    - Lana Feng, Huma.ai
  • PMWC Showcase
    - Janusz Dutkowski, Data4Cure

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