Principal Investigator, RARE-X Research Program

Reports to:
Chief Executive Officer




As the Principal Investigator for the RARE-X Research Program, you will be responsible for an innovative research program developing patient-owned data to characterize rare disorders and capture patient and caregiver experience. Launched in 2021, the RARE-X research program enables robust data collection, sharing, analysis and federation of natural history data for rare disease. RARE-X is a cross-disorder research program, currently collecting data for over 50 rare disease, including neurodevelopmental, neurodegenerative, neuromuscular, immunology, renal, and mitochondrial conditions.
At the core of the research program’s data collection is a structured set of patient-reported assessments defined by expert working groups to collect data across groups of disorders. Data collection based on high level symptomology and skip logic enables deep symptom-level data collection while minimizing participant burden. Clinical data and biosample collection and management are now being added to the research program. The research team works collaboratively with patient advocacy groups and advocates to recruit and engage participants, while supporting data collection for their specific conditions.


  • Assume responsibility for the conduct of the research program, and lead a multidisciplinary team
  • Train, mentor, and lead research staff
  • Ensure documentation and management processes comply with regulatory requirements, including ongoing IRB review and oversight
  • Plan and execute research studies for specific rare disease populations or cohorts
  • Manage data sharing policies
  • Critically analyze and review multidisciplinary research proposals and publications
  • Collaborate with Scientific Advisory Board and other scientific advisors
  • Assist with the preparation of periodic progress reports to funding organizations or agencies as required
  • Collaborate in support of other tasks and projects as appropriate
  • Promote safety and confidentiality of research participants at all times


  • Medical Degree or Doctorate degree in Psychology, Behavioral Health or Life Sciences
  • 5+ years’ experience directing multi-center research programs as Principal Investigator or multi-PI
  • Proficient in survey development, focus group and interview development, protocol writing, regulatory approval, and quantitative or qualitative analysis
  • Experience with natural history studies and/or clinical trials
  • Experience working in rare disease research highly desirable
  • Experience working in neurodevelopmental, neurodegenerative and/or neuromuscular disorders highly desirable
  • Must be proficient in statistical analyses
  • Strong record of originality and productivity including impactful publications
  • Demonstrated capacity to work collaboratively and build relationships across multiple disciplines within a dynamic, distributed team environment
  • Excellent problem solving, project management, communication and presentation skills
  • Passion for making an impact with can-do attitude
  • Personal qualities of integrity, accountability, credibility, empathy and passionate commitment to the mission of RARE-X, Global Genes and the rare disease community that we serve

Salary range:  $150K to $185K (exact salary will be dependent on experience)

Comprehensive benefits including health, dental, vision and ancillary insurance offerings, 401(k), paid time off, cell phone allowance, etc.

We appreciate all interest however, we will only respond to those individuals with whom we have a further interest.

Global Genes is an Equal Opportunity Employer committed to diversity in the workplace.

The statements herein are intended to describe the general nature and level of work being performed by employees and are not to be construed as an exhaustive list of responsibilities, duties, and skills required of personnel so classified. Furthermore, they do not establish a contract for employment and are subject to change at the discretion of the employer.

Last Revised Date: May 2023