Interview with Dr. Giulia Pascolini: Unravelling the Genetic Underpinnings of Dermatological Anomalies
Dr Giulia Pascolini, an esteemed Italian M.D. and Ph.D., is currently responsible for the Genetic Counselling Service of the Istituto…
June 28, 2019
The article details the collaboration between PerkinElmer and FDNA to enhance rare disease diagnosis through the integration of genomic services and phenotyping technology. PerkinElmer brings its extensive genomic testing capabilities, while FDNA contributes its advanced AI-driven facial recognition technology. This partnership aims to create a comprehensive diagnostic platform that combines genetic and phenotypic data, significantly improving diagnostic accuracy and speed. By leveraging these complementary technologies, the collaboration seeks to provide more precise and actionable insights for clinicians, ultimately facilitating earlier and more accurate identification of rare genetic disorders. This integrated approach marks a significant advancement in personalized medicine and rare disease management.
Dr Giulia Pascolini, an esteemed Italian M.D. and Ph.D., is currently responsible for the Genetic Counselling Service of the Istituto…
Founded in 2017, the Spanish Coffin Siris Syndrome Association is an organization dedicated to supporting families affected by this rare…
Dr. Karen Gripp, Erin Wadman & Carolina Alves talk about the delineation of a new syndrome associated with prenatal fentanyl…