Senior Research & Development Scientist - Rare Disease Diagnostics

Job Description Job Description SUMMARY We are seeking a highly experienced and innovative Senior Scientist to lead development of next‑generation molecular diagnostic assays for rare disease applications, spanning multi‑modal technologies including DNA‑based NGS, RNA assays, CNV detection, and structural variant workflows. This role is ideal for a scientist with deep technical expertise and the ability to shape scientific strategy across a portfolio of high‑complexity rare disease assays. The Senior Scientist will drive development from feasibility through validation and transfer, helping define the technological foundation of our rare‑disease diagnostics pipeline. Key Responsibilities Provide scientific leadership in the design, development, and optimization of multi‑modal NGS assays, including DNA sequencing, RNA‑based workflows, CNV/indel detection, and structural variant methodologies. Lead high‑complexity rare‑disease assay development programs, including technical strategy, experimental design, timelines, and risk mitigation plans. Serve as a subject matter expert in NGS workflows and rare‑disease genomics, supporting teams across multiple concurrent assay programs. Design, execute, and interpret advanced experiments to evaluate analytical performance, robustness, and biological variability across diverse rare‑disease sample types. Define performance metrics and collaborate with validation teams to design verification and validation (V&V) studies for clinical readiness. Lead technical transfer to operations, supporting workflow scale‑up, automation implementation, assay robustness, and manufacturing readiness. Collaborate closely with bioinformatics, automation, clinical, regulatory, and quality teams to ensure seamless end‑to‑end assay development. Identify, evaluate, and integrate new technologies, chemistries, sequencing methods, and workflow innovations relevant to rare‑disease assay advancement. Mentor junior scientists and project teams, providing scientific and technical guidance. Author and review technical documentation, study reports, protocols, and materials supporting regulatory and clinical use. Present scientific findings and program updates to stakeholders and leadership. Ensure compliance with quality systems, regulatory requirements, and company policies. Required Qualifications Ph.D. in molecular biology, biochemistry, genetics, genomics, or a related field. Typically 5+ years of industry experience in molecular assay development, ideally within clinical or regulated diagnostics. Demonstrated expertise in NGS‑based assay development, including library preparation, PCR/qPCR, and nucleic acid extraction. Proven experience working with diverse sample types, including blood, saliva, buccal samples, and tissue. Strong understanding of the assay development life cycle, from feasibility through optimization, V&V, and technical transfer. Strong ability to analyze and interpret complex experimental and sequencing datasets. Excellent troubleshooting, problem‑solving, and root‑cause analysis skills. Strong written and verbal communication skills, with the ability to clearly convey scientific concepts to diverse audiences. Preferred Qualifications Experience working in regulated environments such as CLIA, CAP, ISO, or FDA frameworks. Track record of leading multi‑disciplinary assay development programs. Experience with automation and high-throughput liquid handling platforms. Familiarity with bioinformatics pipelines and NGS data quality metrics. Experience supporting regulatory submissions or clinical assay launches. Demonstrated ability to mentor and influence technical direction of scientific staff. PHYSICAL DEMANDS AND WORK ENVIRONMENT Frequently required to sit or stand for extended periods. Frequently required to use hand and finger dexterity to operate laboratory equipment. Frequently required to communicate verbally and visually interpret technical data. Occasionally exposed to bloodborne or airborne pathogens or infectious materials. Work is primarily performed in a laboratory and office environment. EEO Statement: Baylor Genetics is proud to be an equal opportunity employer dedicated to building an inclusive and diverse workforce. We do not discriminate based on race, religion, color, national origin, sex, sexual orientation, age, gender identity, veteran status, disability, genetic information, pregnancy, childbirth, or related medical conditions, or any other status protected under applicable federal, state, or local law. Note to Recruiters: We value building direct relationships with our candidates and prefer to manage our hiring process internally. 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