Introduction
The MAST Genes Research Foundation is a family-led rare-disease organization that connects affected families, supports scientific research, improves awareness, and accelerates the development of therapies for disorders caused by mutations in the MAST family of genes.
MAST stands for microtubule-associated serine/threonine kinase. The MAST gene family includes MAST1, MAST2, MAST3, MAST4, and MASTL. Variants in these genes have been associated with developmental disabilities, epilepsy, structural differences in the brain, impaired speech and movement, intellectual disability, and other neurodevelopmental manifestations.
The Foundation seeks to address the limited knowledge, small patient populations, and inadequate research funding commonly associated with ultra-rare genetic conditions. Its principal activities include:
- Connecting people and families affected by MAST-related disorders
- Developing a list of potential research participants
- Funding competitive scientific research
- Supporting studies of disease mechanisms and genetic variants
- Encouraging therapeutic discovery and development
- Connecting families with researchers and clinicians
- Organizing scientific forums and collaborative discussions
- Raising awareness of rare MAST-related neurodevelopmental disorders
- Sharing scientific publications and research information
Through these activities, the MAST Genes Research Foundation aims to improve diagnosis, quality of life, clinical understanding, and long-term treatment prospects for affected individuals and their families.
History and Background
The MAST Genes Research Foundation was established in 2022 by two families whose children were affected by mutations in MAST genes.
The families had received diagnoses involving different genes—MAST2 and MAST4—but recognized that progress would require a coordinated effort across the entire MAST gene family. They created the Foundation to support broader research rather than concentrating only on their children’s individual genetic variants.
The organization emerged in response to several challenges:
- Very small and geographically dispersed patient populations
- Limited clinical and natural-history information
- Delayed or uncertain genetic diagnoses
- Insufficient understanding of MAST protein functions
- Few validated cellular and animal models
- Limited research funding for ultra-rare disorders
- No available disease-modifying therapies
Scientific interest in MAST genes had already begun to develop. Research published in 2018 identified MAST1 variants in patients with structural brain abnormalities, developmental delay, motor impairment, speech difficulties, and seizures. Subsequent studies reported additional MAST1-associated neurodevelopmental presentations.
In 2021, researchers identified MAST3 variants in patients with developmental and epileptic encephalopathy. Evidence suggested that some disease-associated MAST3 variants may increase kinase activity, offering an important direction for future functional and therapeutic studies.
Emerging clinical and laboratory work has also connected variants in MAST2 and MAST4 with epilepsy and neurodevelopmental differences. However, their complete clinical and biological characteristics are still being defined.
In late 2023, the Foundation joined the JumpStart program operated by the Orphan Disease Center at the University of Pennsylvania’s Perelman School of Medicine. This partnership connected the organization with specialists in rare-disease research, grant management, therapeutic development, patient engagement, and scientific collaboration.
The Foundation has since completed several early objectives:
- Raising $100,000 for competitive MAST gene research
- Funding a research grant focused on the MAST gene family
- Hosting a global scientific forum through the JumpStart program
Its continuing goals include funding additional research projects and building a list of at least 250 potential participants for future MAST-related studies.
Mission and Purpose
The MAST Genes Research Foundation’s mission is to connect families and accelerate research into microtubule-associated serine/threonine kinase genetic mutations to improve quality of life and develop therapies for affected individuals.
The Foundation’s strategic objectives include:
- Reducing the time required to obtain a diagnosis
- Identifying and connecting people with MAST-related variants
- Bringing families, clinicians, and researchers together
- Creating opportunities for scientific and family education
- Developing a research-ready patient community
- Raising funds for competitive scientific projects
- Supporting biological and clinical investigation of MAST genes
- Improving understanding of disease mechanisms
- Encouraging the development of targeted therapies
- Enabling families to contribute through advocacy, volunteering, fundraising, and research participation
A central feature of the Foundation’s work is its family-wide approach. Instead of treating MAST1, MAST2, MAST3, and MAST4 as entirely separate research areas, it supports investigation of their distinct and overlapping functions.
This approach may help researchers identify shared biological pathways, compare genetic variants, develop common research models, and determine whether therapeutic discoveries involving one MAST gene could inform work on another.
Governance and Structure
The MAST Genes Research Foundation is governed by a board that combines family experience, nonprofit leadership, public health knowledge, molecular genetics, neurodevelopmental research, and model-organism expertise.
Its current board includes:
- Cody Sandahl — President: A nonprofit leader and technology professional who is the parent of a child with a MAST2 variant. He also founded Code4Kids, a nonprofit organization focused on computer-programming education.
- Scott Houghtaling — Secretary: A research laboratory supervisor at Seattle Children’s Research Institute with a Ph.D. in molecular and medical genetics. His experience includes mouse genetics, molecular research, and the development of experimental models. He is the parent of a child with a MAST4 variant.
- Becca Sandahl — Treasurer: A public health data professional with experience in exercise physiology, chronic health conditions, Alzheimer’s disease, dementia, and volunteering with the Epilepsy Foundation of Colorado. She is the parent of a child with a MAST2 variant.
- Kim Aldinger — Board Member: A principal investigator at Seattle Children’s Research Institute and assistant professor in the University of Washington’s Department of Pediatrics, Division of Genetic Medicine. She has more than 20 years of experience studying the genetics of neurodevelopmental disorders and is the parent of a child with a MAST4 variant.
This governance model helps the Foundation incorporate both scientific expertise and the lived experiences of affected families.
The Foundation also works with external partners, researchers, clinicians, academic institutions, and rare-disease specialists. Its collaboration with the Orphan Disease Center provides additional research-development and grant-administration capacity.
Funding and Grants
The MAST Genes Research Foundation raises charitable funds to support research into the biology, clinical manifestations, and treatment of MAST-related neurodevelopmental disorders.
Its funding strategy focuses on competitive research projects that can:
- Generate high-quality preliminary data
- Investigate novel or underexplored scientific questions
- Develop disease-relevant research models
- Improve understanding of genetic variants
- Identify biological and therapeutic targets
- Prepare investigators for larger external grants
- Accelerate future translational research
2026 MAST Genes Pilot Grant Program
The Foundation’s 2026 Pilot Grant Program supports two investigator-initiated research projects focused on MAST genes and therapeutic development.
The funding available is:
- Number of grants: Two
- Funding amount: $50,000 per project in total costs
- Project duration: Up to 12 months
- Indirect costs: Not permitted
The program is administered in partnership with the Orphan Disease Center at the University of Pennsylvania.
Research Priorities
Proposed projects must be directly relevant to the biology or clinical manifestations of MAST1, MAST2, MAST3, or MAST4-related neurodevelopmental disorders.
Priority areas include:
- Disease mechanisms and variant-level biology
- Therapeutic approaches
- Multi-investigator and interdisciplinary collaboration
Projects should be designed to generate meaningful findings within the 12-month grant period and position researchers for future scientific or therapeutic funding.
Disease Mechanisms and Variant-Level Biology
The grant program supports studies investigating how pathogenic or likely pathogenic variants in MAST1–MAST4 affect cellular and neurological processes.
Eligible areas of investigation include:
- MAST protein expression
- Kinase activity
- Downstream signaling pathways
- Neuronal development and function
- Protein substrates and binding partners
- Functional effects of patient-observed variants
- Recurrent MAST gene mutations
- Genotype–phenotype relationships
- Patient-derived cellular models
- Engineered cellular or animal models
- Biomarkers and measurable biological outcomes
Researchers may examine individual genes or compare mechanisms across multiple members of the MAST gene family.
Therapeutic Research
The Foundation supports exploratory and proof-of-concept studies that could contribute to treatments for MAST-related disorders.
For the 2026 program, therapeutic research is particularly focused on MAST1 and MAST3-related conditions.
Relevant approaches include:
- Small-molecule screening
- Kinase-modulating compounds
- Drug-repurposing studies
- Antisense oligonucleotide development
- Small interfering RNA strategies
- Gene replacement
- Gene editing
- RNA-based therapeutic approaches
- Therapeutic-target validation
- Disease-relevant biochemical assays
- Cellular assays suitable for high-throughput screening
The Foundation recognizes that current care is largely supportive and that no disease-modifying therapies are available. Pilot funding is therefore intended to help researchers move promising ideas toward more extensive preclinical studies.
Collaborative Research
Multi-investigator and interdisciplinary applications are encouraged where collaboration can strengthen a project’s scientific quality or translational potential.
Competitive collaborations may connect:
- Basic neuroscientists
- Clinical geneticists
- Pediatric neurologists
- Epilepsy researchers
- Molecular and cellular biologists
- Structural biologists
- Computational scientists
- Pharmacologists
- Gene-therapy specialists
- Patient organizations and family communities
Particular value is placed on partnerships that connect basic neurobiology with clinical research and patient-observed outcomes.
Who Can Apply?
Eligible applicants for the 2026 MAST Genes Pilot Grant Program include:
- Investigators holding faculty-level appointments at academic institutions
- Investigators in senior positions at nonprofit research organizations
- Investigators in senior positions at eligible foundations
- International researchers
- Early-career investigators with documented institutional support
- Postdoctoral fellows with documented institutional and mentor support
International applications are welcome, allowing the Foundation to support MAST gene research beyond the United States.
Applicants must demonstrate that they possess or can obtain the expertise, facilities, ethical approvals, biological materials, research models, personnel, and equipment needed to complete the proposed project within 12 months.
Application and Selection Process
The 2026 grant process begins with a one-page Letter of Interest. Full applications are accepted by invitation only after the initial review.
The Letter of Interest must include:
- Project title
- Principal investigator’s name
- Host institution
- Overall project goal
- Clear relevance to MAST genes
- Alignment with the funding priorities
- Brief scientific background
- Concise specific aims
- High-level project timeline
- Requested budget
For the 2026 cycle:
- Letter of Interest deadline: August 28, 2026, at 8:00 p.m. Eastern Time
- Full application deadline for invited applicants: October 2, 2026
Letters of Interest must be submitted through the designated online system. Applicants invited to the full application stage receive additional instructions and templates.
Full proposals are evaluated according to:
- Scientific rigor
- Project feasibility
- Relevance to MAST genes
- Innovation and significance
- Potential to advance therapeutic development
- Potential to improve clinical research readiness
- Investigator qualifications
- Access to necessary resources
- Likelihood of generating data for future funding
The research plan should clearly explain whether the project requires patient samples, animal models, cellular reagents, institutional review board approval, animal-care approval, specialized equipment, or additional personnel.
Major Programs and Initiatives
Research Grant Program
The Foundation raises funds and distributes competitive grants to scientists studying MAST-related disorders. Its research funding is intended to fill early-stage evidence gaps and attract additional investigators to the field.
JumpStart Partnership
The Foundation joined the Orphan Disease Center’s JumpStart program in 2023. JumpStart helps rare-disease organizations develop research strategies and connect with academic scientists, biotechnology companies, pharmaceutical companies, and other organizations involved in therapeutic development.
Through this partnership, the Foundation has worked toward:
- Establishing research priorities
- Convening researchers
- Developing competitive grant opportunities
- Strengthening scientific collaboration
- Preparing the MAST community for therapeutic research
Global Research Forum
The Foundation has completed an objective to host a global research forum through the JumpStart program. Scientific forums allow researchers and clinicians to share findings, identify evidence gaps, compare methods, and develop collaborative projects.
For an ultra-rare group of conditions, international collaboration is essential because patients and experts are widely dispersed.
Patient Identification and Family Network
The Foundation is building a list of people with confirmed or suspected MAST-related conditions. Its stated objective is to identify at least 250 potential participants for future research.
A patient network can help:
- Reduce isolation among families
- Connect people with appropriate researchers
- Identify clinical similarities and differences
- Support natural-history research
- Facilitate participant recruitment
- Improve understanding of genotype–phenotype relationships
- Prepare for future clinical studies
- Demonstrate the size and needs of the patient community
Individuals and families can join through the Foundation’s patient-list registration system.
Scientific Information and Publications
The Foundation maintains a collection of publications and information about MAST1, MAST2, MAST3, and MAST4. This resource helps families, clinicians, and researchers locate relevant studies and understand the emerging scientific evidence.
Family Education and Advocacy
The organization shares family stories and research information to increase awareness of MAST-related disorders. It also encourages families to contribute through advocacy, fundraising, research participation, community outreach, and volunteering.
Scientific Focus of MAST Gene Research
The MAST genes encode microtubule-associated serine/threonine kinase proteins. These proteins are found in neuronal cells in the developing and mature brain.
Microtubules are involved in essential nervous-system processes, including:
- Neuronal migration
- Cellular structure and scaffolding
- Transport within cells
- Brain development
- Synapse formation
- Neural communication
MAST proteins contain functional regions that may allow them to interact with other proteins or modify target proteins through phosphorylation. However, many of their precise molecular functions remain poorly understood.
Current evidence indicates:
- MAST1 variants are associated with structural brain malformations, developmental delay, motor difficulties, speech impairment, and seizures.
- MAST3 variants are associated with developmental and epileptic encephalopathy and multiple seizure types.
- MAST2 variants have been identified in individuals with epilepsy and neurodevelopmental manifestations, but the complete clinical spectrum is still emerging.
- MAST4 variants have been associated with developmental delay, epilepsy, infantile spasms, and other neurodevelopmental presentations, although further research is required.
Understanding these differences is essential for improving diagnosis, counseling families, defining disease mechanisms, and identifying appropriate therapeutic approaches.
Impact and Examples of Work Supported
Although the MAST Genes Research Foundation is a relatively young organization, it has completed several important foundational activities.
Its reported achievements include:
- Raising $100,000 for competitive research
- Funding a research grant into the MAST gene family
- Joining the Orphan Disease Center’s JumpStart program
- Hosting a global MAST research forum
- Establishing formal strategic research priorities
- Launching an international pilot grant program
- Building connections among families, researchers, and clinicians
- Developing a patient identification initiative
- Increasing awareness of MAST1–MAST4-related conditions
The 2026 Pilot Grant Program represents a significant expansion of the Foundation’s funding activity. By providing two $50,000 grants, the organization is investing in projects that may generate the preliminary evidence needed to secure larger grants from government agencies, foundations, or biotechnology partners.
The Foundation’s impact also extends beyond direct research funding. By identifying families and organizing scientific collaboration, it creates essential infrastructure for future natural-history studies, biomarker research, therapeutic development, and clinical-trial readiness.
Conclusion
The MAST Genes Research Foundation is a family-led organization addressing the scientific and practical challenges associated with rare MAST gene mutations. Established in 2022, it connects affected families, raises research funding, supports international collaboration, and promotes the development of therapies for MAST-related neurodevelopmental disorders.
Its work covers MAST1, MAST2, MAST3, and MAST4, with broader interest in understanding the entire MAST gene family. The Foundation’s partnership with the University of Pennsylvania’s Orphan Disease Center strengthens its capacity to establish research priorities, manage competitive grants, convene scientists, and accelerate therapeutic development.
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