• Genetic Understanding & Fundamental Biology

  We invest in understanding which genes cause NBIA, how they disrupt brain iron regulation, and why some symptoms manifest early while others appear later. We support lab-based studies that uncover molecular pathways and provide the foundation for targeted therapies.

• Early and Accurate Diagnosis

  Diagnosis delays are a common issue for NBIA. Our strategy includes improving access to genetic testing, MRI imaging, and biomarkers. By building diagnostic tools and collaborating with clinics worldwide, we aim to ensure children receive answers sooner.

• Therapeutic Innovation

  We pursue research into new treatments that go beyond symptom relief. This includes gene therapy, enzyme replacement, iron regulation strategies, and other approaches. We also prioritize safety and feasibility-ensuring that treatments are both effective and accessible.

• Clinical Trials & Translational Research

  Bridging the gap from bench science to patient benefit is at the heart of what we do. We support phase I-III trials, translational studies, and collaboratives that enable rapid deployment of promising findings into real-world interventions.

• Patient & Family Engagement

  The lived experience of children and families informs everything-from research priorities to trial design. We partner with families, support groups, and advocates to gather insights, share experiences, and shape research approaches.

• Collaboration & Data Sharing

  Science moves faster when we share. Our strategy ensures data, resources, clinical findings, and patient-reported outcomes are shared across borders and disciplines. We invest in networks, registries, and international partnerships so that no family or researcher works in isolation.

• Equity & Accessibility

  NBIA affects families globally, but access to diagnosis, care, and innovation isn’t equal. Our strategy includes deliberate efforts to reach underserved regions, remove financial barriers, and ensure treatments are available to all who need them, not just a few.

What Progress Looks Like

• More NBIA genes identified in the past few years.
• New clinical sites diagnosing and treating NBIA in under-resourced areas.
• Early-phase trials have launched for some therapies targeting iron regulation or gene replacement.
• Patient registries collecting real-world data to better understand disease variability.

Challenges We Are Addressing

• Ensuring that early-stage research progresses safely into clinical trials.
• Building infrastructure and resources for families who are geographically distant from specialty centers.
• Balancing investment between more common NBIA types and ultra-rare subtypes.
• Overcoming regulatory, safety, and delivery challenges for advanced therapies like gene therapy.

Looking Ahead: Strategic Goals

• Support 2–3 more gene discovery studies in the next 1-2 years.
• Launch multi-center clinical trials for NBIA therapy X (example).
• Expand diagnostic access through telemedicine, remote genetic testing, and mobile clinics.
• Elevate patient/caregiver voices in trial design, regulatory dialogue, and research priority settings.

How You Can Support Our Strategy

• Share NBIA research updates and invite collaboration.
• Participate in or help fund registries, genetic studies, and clinical trials.
• Serve as research partners or contributors-families can help with quality of life data.
• Advocate for policy that supports rare disease research funding and equitable care.

Resources & Partnerships

• NBIA Disorders Association: foundational resources on genetics and research.
• NBIACure: supports collaborative research funding and trial facilitation.
• TIRCON (Treat Iron-Related Childhood-Onset Neurodegeneration) and similar consortia.
• Research publications, conferences, preprints, and open-access datasets.