About Science 2.0
The RG research initiative (Science 2.0) addresses the need for combined in-depth analysis of the genetic and medical data for each patient which is not provided by physicians, genetic counselors, or sequencing services. Our research model involves crowd-sourcing ideas from our global network of scientists, cloud collaboration, adoption of state of the art computational systems, and utilizing the unique expertise of our in house scientific team to provide actionable insights into each case. Specifically, patient medical and genetic data is stored and shared via a partnership with online medical record system Patients Know Best. In-depth genetic analysis informed by comprehensive and well-defined medical phenotypes for each patient is carried out by our in house team of PhD-trained volunteer analysts. These analyses along with an extensive compilation of the literature relating to symptoms, genes of interest, treatments, or similar cases as well as opportunities to join relevant clinical trials and connect with external experts, are assimilated into scientific reports including recommended next steps. These reports are returned to the patients and published on our online forum for further research and collaboration.
The Lead Scientific Analyst will be responsible for overseeing the scientific content of all patient research cases under the Science 2.0 program at Rare Genomics Institute and ensuring the integrity of the work produced by analysts working on the team. These responsibilities include deep scientific discussions with analysts regarding cases as well as providing guidance for further internal research efforts for each case. Ultimately, the Lead Scientific Analyst will be responsible for reviewing and editing all patient case reports for accuracy, completeness, and clarity, and delivering these reports to patients and their families.