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Report

CAMK2-Related Neurodevelopmental Disorders: A Giving Smarter Guide

An image of a female-presenting person named Nadia Penrod. She has medium length brown hair and white skin. She is smiling at the camera and wearing a black jacket with a tan sweater.

Nadia Penrod, PhD

Associate Director, Science Philanthropy Accelerator for Research and Collaboration (SPARC) team, Milken Institute Strategic Philanthropy
Nadia Penrod,PhD, is an associate director on the Science Philanthropy Accelerator for Research and Collaboration (SPARC) team at Milken Institute Strategic Philanthropy. In this role, she leverages her expertise as an interdisciplinary scientist in biomedicine and informatics to identify high-impact opportunities for philanthropic investment that promote science for the public good and have the potential to transform health.
An image of a smiling light-skinned female-presenting person named Elizabeth Burke with light hair wearing a black shirt against a nature-ish background

Elizabeth Burke, PhD

Associate Director, Science Philanthropy Accelerator for Research and Collaboration (SPARC) team, Milken Institute Strategic Philanthropy
Elizabeth Burke, PhD, is an associate director on the Science Philanthropy Accelerator for Research and Collaboration (SPARC) team at Milken Institute Strategic Philanthropy. Her expertise lies in rare disease research, including neurodevelopmental and neurodegenerative disorders, strategic planning, project management, and promoting collaboration between clinical and scientific teams.
Portrait of Cara Altimus

Cara Altimus, PhD

Managing Director, Science Philanthropy Accelerator for Research and Collaboration (SPARC) team, Milken Institute Strategic Philanthropy
Cara Altimus, PhD is a managing director on the Science Philanthropy Accelerator for Research and Collaboration (SPARC) team at Milken Institute Strategic Philanthropy, leading the science and health innovation portfolio. A PhD neuroscientist, Altimus advises individual philanthropists and foundations on the state of research for various areas including neurodegenerative disease and mental health, identifying opportunities where their capital can make the biggest impact.
Light-skinned female-presenting person named Caitlyn Barrett with light hair in a yellow jacket and black shirt with gray gradient background

Caitlyn Barrett, PhD

Director, Science Philanthropy Accelerator for Research and Collaboration (SPARC) team, Milken Institute Strategic Philanthropy
Caitlyn Barrett, PhD, is a director on the Science Philanthropy Accelerator for Research and Collaboration (SPARC) team at Milken Institute Strategic Philanthropy. Her scientific expertise in cancer biology and neurodegeneration in addition to her experience in grant and program management, stakeholder engagement, and program analysis are brought to bear as she partners with philanthropists to maximize their impact on the biomedical ecosystem.
Topics
Health
Medical Treatments and Therapies
Rare Disease Research
Neurological Health
Brain Health
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CAMK2-related disorders represent a rare and urgent intersection of deep scientific insight and profound unmet need. Caused by mutations in genes essential for learning, memory, and brain development, these conditions lead to lifelong neurodevelopmental challenges, often including severe developmental delays, communication impairments, motor dysfunction, emotional dysregulation, and epilepsy. For the estimated hundreds of diagnosed individuals worldwide—and the many more likely to be identified as genetic testing expands—there are currently no FDA-approved, disease-targeted treatments.

What makes this moment extraordinary is not just the need, but the opportunity. CAMK2 has been studied for decades and is one of the most well-characterized molecular pathways in the field of neuroscience. Yet only recently has its direct link to rare neurodevelopmental disorders been recognized. As a result, this field remains dramatically underfunded: over the past decade, no National Institutes of Health grants and only a handful of research awards globally have focused specifically on CAMK2-related disorders. The science is ready, the tools exist, and the expertise is in place, yet progress is constrained by a lack of coordinated, disease-focused investment.

This report outlines how strategic philanthropy can change that trajectory. Drawing on insights from leading scientists, clinicians, and other stakeholders, it maps the current research landscape and identifies high-impact opportunities to accelerate therapeutic development and improve clinical care. From networked centers of excellence and shared preclinical tools to precision therapeutics, biomarkers, and collaborative data infrastructure, the report presents a clear and actionable roadmap for translating foundational knowledge into real treatments.

For philanthropists and experts seeking to catalyze outsized impact in rare disease and neurodevelopment, CAMK2-related disorders represent a uniquely tractable opportunity. With targeted investment now, it is possible to unify global efforts, de-risk innovation, and deliver meaningful, life-changing therapies—both for families living with these disorders today and for those yet to be diagnosed.

Download the full report to explore the science, gaps, and the opportunities to drive transformative progress.

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