May 2, 2025

Position: Research Manager

– estimated 30 hours/week
– remote part-time position
– salary starting at $70,000 per year, commensurate with experience


To apply, please send your resume and cover letter to Natacha Pires at natacha@apbdrf.org.


We are seeking a passionate, mission-driven professional to lead initiatives at the intersection of patient advocacy, scientific communication, rare disease research, and cross-sector collaboration. In this role, you will act as a key liaison, integrating the perspectives of patients, clinicians, and researchers with the resources of industry partners to accelerate advancements in rare disease research. The primary focus will be on Adult Polyglucosan Body Disease (APBD), a late-onset form of glycogen storage disease type IV (GSD IV).

We are also actively consolidating efforts to strengthen our impact across the broader GSD IV community. Recognizing that APBD and Andersen Disease (the early-onset form of GSD IV) share a common genetic etiology despite differing clinical presentations, we acknowledge these conditions represent a continuum of the same underlying biochemical disorder. Therefore, we are committed to uniting these ultra-rare disease communities to amplify our collective voice and accelerate the translation of therapeutic breakthroughs.

Join our dynamic, close-knit team at a pivotal moment of growth and momentum within our community!

Key Responsibilities:

Cross-Sector Collaboration & Strategic Partnership Building

  • Actively seek collaborative opportunities with patients, researchers, clinicians, industry representatives, umbrella organizations such as CombinedBrain, and regulatory agencies to further develop and steward collaborations with the goal of advancing drug development
  • Strengthen engagement with APBDRF’s Scientific & Medical Advisory Board to inform strategic direction, assess and set research priorities, and ensure alignment with the latest scientific and clinical insights that can accelerate therapeutic development.
  • Coordinate internal and external communications, including but not limited to meeting facilitation, follow-ups, sponsorship outreach, and partnership building
  • Attend scientific and advocacy conferences to network, stay up to date with developments in the field, and increase visibility for the organization
  • Help manage genetic counseling interns as they develop educational content and other resources

Research Advancement & Therapeutic Development

  • Contribute to the design and implementation of research studies, including but not limited to those supported by Foundation grants and collaborative initiatives through CombinedBrain
  • Manage the coordination and logistics of patient sample collection to support the development of a centralized biorepository in partnership with CombinedBrain
  • Contribute to data analysis efforts across multiple initiatives, such as interpreting APBD proteomic datasets and reviewing raw data generated from AI-driven drug repurposing approaches
  • Support therapeutic development efforts by contributing to grant applications and strategic research planning
  • Plan and execute scientific conferences and workshops that foster collaboration between researchers, clinicians, and families

Patient Engagement & Education

  • Act as one of the primary liaisons between patients, scientific advisors, and industry partners to identify and advocate for unmet needs
  • Curate and develop educational resources, newsletter features, and patient engagement tools that center lived experience
  • Translate complex biomedical concepts (e.g., biomarkers, trial design, antisense therapies) into accessible language for our patient community
  • Engage with and assist with recruitment efforts for patients to participate in registries, natural history studies, and clinical trials

Core Skills & Competencies:

  • Ability to develop, build and maintain cooperative working relationships with researchers, clinicians, and cross-sector collaborators to advance therapeutic goals for APBD and related disorders
  • Strong planning, organizational, and interpersonal skills, with experience communicating effectively across patient, clinical, academic, and industry audiences
  • Comfortable representing the Foundation at scientific conferences, advocacy events, and external meetings
  • Ability to synthesize and communicate complex scientific concepts, research findings, and regulatory processes in clear, actionable ways for diverse stakeholders
  • Experience supporting data analysis efforts in life sciences
  • Proven track record of building relationships and establishing and advancing collaborations across and within the non-profit, for-profit, patient advocacy, and academic sectors

Preferred Background:

A successful candidate will have a solid foundation in rare disease research, with experience in areas such as translational research, drug discovery, drug development, or preparing for clinical trials. This experience should ideally come from work in nonprofit organizations, academic institutions, or the pharmaceutical/biotech industry. Familiarity with rare genetic diseases — especially neurodegenerative disorders — is essential, given the genetic complexity and clinical challenges associated with these conditions. Because this is a specialized position, a master’s degree (or equivalent experience) or a PhD in life sciences or a related field is required.

Note:

Most work is between 9am and 5pm Monday through Friday. There is some flexibility in the work schedule as long as goals are accomplished. The role is primarily remote, with telework as the standard, except during occasional in-person meetings or events.

About APBD:

With only 200 diagnosed patients around the world, APBD is an ultra-rare, inborn error ofmetabolism. It is diagnosed most frequently in people of Ashkenazi Jewish ancestry, although itis pan-ethnic. Patients begin experiencing symptoms in their 30s, 40s, and 50s, when they’re inthe prime of their lives. As the disease progresses, they lose the ability to walk, stand, staycontinent, stay awake, perform at work, and socialize. Patients are robbed of almost every aspect of independence.

APBD is a devastating, life-changing disease for the patient as well as the family. Providingloving care can be deeply satisfying, but also physically and emotionally exhausting, especially for the primary support partner.

APBD is caused by the intracellular accumulation of polyglucosan bodies, formed due toglycogen branching enzyme (GBE) deficiency. When there is low activity of the branchingenzyme, newly formed glycogen is manufactured incorrectly into long, poorly branched,insoluble strands called polyglucosan bodies (PBs). As these PBs accumulate in nerve cells,muscles, and other tissues, it is thought that they cause a cascade of reactions resulting inprogressive neurodegeneration and reduced life expectancy.

About the APBD Research Foundation:

Founded in 2005, the Adult Polyglucosan Body Disease Research Foundation is the leading501(c)(3) non-profit committed to supporting patients and families impacted by APBD and finding treatments and a cure for this debilitating condition. To learn more about APBD and theFoundation, visit apbdrf.org.

The APBD Research Foundation is an equal opportunity employer. All applicants will be considered for employment without attention to race, color, religion, sex, sexual orientation, gender identity, national origin, veteran, or disability status.