Lead Scientific Analyst for Patient Research - Volunteer

Rare Genomics Institute
Job Location
Volunteer Posoition
Job Description

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.



MD-PhD (preferred)/PhD in biomedical sciences specializing in Genomics and Personalized Medicine.

The ideal candidate will be well-versed in analyzing and interpreting genomic data for clinical purposes with a penchant for investigating rare and complex phenotypes. Extensive experience in writing and editing scientific manuscripts, along with knowledge of biomedical science and clinical medicine are required. Expertise in Rare Disease and experience working with Rare Disease patients will be beneficial. The ideal candidate must possess excellent communication skills for relating to fellow scientists and for communicating findings to patients in a compassionate and understandable manner. 

About Our Organization

About Rare Genomics Institute

The Rare Genomics Institute (RG) is an international non-profit which connects rare disease patients to cutting-edge genomic solutions for diagnosis and treatment. RG partners sequencing sites to provide our patients with genome sequencing services.

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