Patient Research Analyst

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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 with sequencing sites to provide our patients with genome sequencing and interpretation services.

About RG Patient Research Service

RG Patient Research Service (RGPRS), the RG research initiative 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 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. 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.

Responsibilities

The analyst will be responsible for:

• Studying the patient’s medical phenotypes, analyzing and interpreting the patient’s genomic data, performing literature and clinical trial searches, and assimilating and reporting the findings into a scientific report.
• W orking in a team to generate the scientific report which will be returned to the patient and may inform further clinical action.
• Attending and participating in bi-weekly team meetings.
• Working closely with the PMO team to ensure case completion success.
• Proactively communicating with the PMO and scientific team.
• Working with genomic data analysis platforms.

Qualifications

The ideal candidate should be well-versed in:

• Analyzing and interpreting next-generation 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. PhD in biological and/or biomedical sciences or a related field required.