Adriana Malheiro serves as the Lead Curator for Medical Genetics and Human Variation at the National Center for Biotechnology Information (NCBI), where she plays a pivotal role in bridging the gap between genetic research and clinical practice. With a strong background in biochemistry, molecular biology,...
Adriana Malheiro serves as the Lead Curator for Medical Genetics and Human Variation at the National Center for Biotechnology Information (NCBI), where she plays a pivotal role in bridging the gap between genetic research and clinical practice. With a strong background in biochemistry, molecular biology, and biotechnology, Adriana leverages her expertise to enhance the integration of genetic and genomic information into everyday medical decision-making. As the director of the NIH Genetic Testing Registry (GTR) and MedGen, she oversees the development and management of these vital resources, which are designed to provide healthcare professionals with comprehensive, up-to-date information on genetic tests and their scientific foundations.
Under her leadership, the GTR has become the world’s first free, centralized online platform, boasting an impressive catalog of 49,000 detailed genetic tests registered by laboratories across 41 countries, covering over 10,000 medical conditions. This extensive database not only empowers clinicians with the necessary tools to make informed decisions but also enhances patient care by ensuring that genetic testing is accessible and scientifically validated. Adriana's role as editor-in-chief further underscores her commitment to maintaining high standards of quality and accuracy in the information disseminated through these platforms.
Her work is instrumental in advancing the field of medical genetics, as she collaborates with a diverse team of experts to ensure that the latest research and clinical guidelines are effectively communicated to practitioners. Adriana's contributions are vital in fostering a deeper understanding of human genetic variation and its implications for personalized medicine, ultimately leading to improved health outcomes for patients worldwide.