Grant Opportunities

We fund research that will promote advances in the treatment and management of Kabuki syndrome across the lifespan. Research completed in cross-institutional collaborations can accelerate timelines, promote efficiency, and make a larger impact across the Kabuki syndrome community. Explore KSF funded projects here.

Be Notified of Future Grants

2026 Discovery Program: Enabling Gene-Targeting Therapies for Kabuki Syndrome

The Kabuki Syndrome Foundation (KSF) is excited to announce the launch of the 2026 Discovery Program, a new research funding initiative designed to generate the foundational scientific evidence needed to enable gene-targeting therapies for Kabuki syndrome.

Grant Focus

This program will address critical biological questions that must be answered before gene-targeting approaches can be selected and designed by supporting research to:

Particular areas of interest include:

  • Dosage threshold — What biological effect is needed?
    What is the minimum increase in gene function required for meaningful rescue in disease-relevant cell types, and what is the upper safety boundary? How long must restoration be maintained for durable rescue, and which deficits remain reversible at postnatal timepoints?
  • Variant mechanism — Is upregulation safe?
    Do pathogenic variants act purely through haploinsufficiency, or do some variant classes (particularly missense variants) exert dominant-negative effects on COMPASS complex activity?

By investing in the foundational science needed to enable gene targeting therapies, KSF continues its commitment to building the research ecosystem that will bring meaningful treatments to individuals and families affected by Kabuki syndrome.

Request for Applications

Additional Funding Opportunities

At the heart of KSF’s mission is a commitment to accelerating scientific and therapeutic developments from benchside to bedside as quickly and safely as possible. In addition to our main research grant, we may offer ad hoc funding for exceptional projects that fall outside our current funding calls.

If you have a research project that does not align with our active funding opportunities but you believe warrants consideration, we encourage you to submit a Letter of Intent (LOI).

Please complete a copy of the LOI template and send it to clara@kabukisyndromefoundation.org for review.

Explore Our Past Grant Awards

As of January 8, 2025, the Kabuki Syndrome Foundation has dedicated $2.4 million to propel our research roadmap, LEAP, to treatments for everyone with Kabuki syndrome.

With the incredible support of our community, we now have 13 active research grants spanning 14 academic institutions and 5 industry partners. These initiatives tackle key development areas, including uncovering the disease’s underlying mechanisms, creating animal and cell models for research, and advancing promising drug candidates to clinical trials.

March 2025

Unravel Biosciences


This project aims to discover potential treatments for Kabuki syndrome type 2 (KS2) using Unravel’s proprietary bioinformatics platform, BioNAV™. By analyzing RNAseq data from nasal swabs of KS2 patients and matched controls, BioNAV™ will identify differentially expressed genes, pathways, and potential therapeutic targets.

 


The platform will predict compounds—including FDA-approved and GRAS compounds—capable of restoring disrupted RNA networks. Patients will be stratified into Therapeutic Response Groups based on predicted response mechanisms, informing drug repurposing strategies and future clinical trial design.

March 2025

Dr. David Geneviève, MD, PhD, Dr. Farida Djouad, PhD, Dr. Jean-Christophe Andrau, PhD and Dr. Kyle Fink, PhD


Kabuki syndrome type 1 (KS1) is a rare genetic disorder caused by KMT2D mutations, leading to impaired H3K4 methylation and disrupted gene activation. Affected individuals exhibit neurodevelopmental delays alongside skeletal, cardiac, and facial abnormalities, yet no effective treatments exist.

 

This study explores whether dCas9-activated transcription can compensate for KMT2D haploinsufficiency. By coupling catalytically inactive Cas9 (dCas9) with the transcriptional activator VP60, researchers aim to upregulate the wild-type KMT2D allele in a zebrafish model of KS1. If successful, this approach could pave the way for a novel gene activation-based therapy for KS.

January 2025

Dr. Patricia Cogram, PhD and Dr. Jacqueline Harris, MD


Kabuki syndrome (KS) type 1 is a genetic disorder caused by mutations in KMT2D, a lysine methyltransferase that regulates chromatin structure and gene expression. Ketones, such as BHB, act as histone deacetylase inhibitors (HDACi) and have shown promise in preclinical studies for rescuing hippocampal memory deficits in a KS mouse model. A recent case study of a 12-year-old with KS demonstrated cognitive improvements and transcriptomic normalization following 12 months on a ketogenic diet, further supporting the therapeutic potential of ketones. 

 

This study will test whether BHB-mediated HDAC inhibition can rescue cognitive deficits by:

 

+ Determining the minimum effective dose of exogenous BHB required for HDAC inhibition in Kmt2d+/βGeo mice.

 

+ Comparing the effects of intermittent pulse dosing versus sustained steady-state BHB levels on phenotypic correction.

This award was part of our 2024 Discovery Grant.

November 2024

Prof. Olaf Bodamer, MD, PhD and Mareike Mertens, MD, PhD


Heterozygous loss-of-function variants in KMT2D and KDM6A cause Kabuki syndrome (KS), a Mendelian disorder of the epigenetic machinery (MDEM) with multisystem involvement and progressive neurological, sensory, and immune dysfunction. Despite the significant disease burden, no approved therapies exist.


Leveraging high-throughput drug screening with KMT2D/KDM6A reporter cell lines, patient-derived iPSC neurons, and a KS mouse model, the group has identified five small molecule candidates that increase KMT2D/KDM6A expression, targeting the core disease mechanism. The lead compound is FDA-approved for another indication.


Next steps include validation in patient-derived cell lines and KS knockout mice. If successful, the most promising candidates will advance toward clinical development for potential therapeutic use in KS.

Dr. Patricia Cogram, PhD, Dr. Emilio Kropff, PhD, Prof. Robert JM Deacon, PhD, Purposeful, and Dr. Jacqueline Harris, MD


This project aims to identify new treatments for Kabuki syndrome (KS) type 1 by repurposing FDA-approved drugs, leveraging AI to accelerate discovery.


Purposeful will analyze genomic, proteomic, and bioactivity data to pinpoint biological pathways disrupted by KMT2D mutations and screen for compounds targeting these pathways.

 

GeN will evaluate promising candidates through a multi-faceted preclinical approach:

 

+ GeN-Behavior (Dr. Robert JM Deacon): Assesses cognitive and neurological effects in KS mouse models.

 

+ GeN-Molecular (Dr. Patricia Cogram): Conducts molecular and genetic analyses to validate drug efficacy.

 

+ GeN-Physiology (Dr. Emilio Kropff): Measures hippocampal place-cell activity to assess neural function, enhancing translational potential.


Dr. Jacqueline Harris (Kennedy Krieger Institute) will provide clinical expertise, ensuring relevance to epigenetic disorders. This AI-driven approach aims to fast-track treatment development for KS.

This award was part of our 2024 Discovery Grant.

July 2024

InnoSer Laboratories


Lysine-specific demethylase 1A (LSD1) removes KMT2D-dependent H3K4 methyl marks, and its inhibition has been proposed to counteract molecular and phenotypic defects associated with KMT2D loss. Preclinical studies in Kmt2d+/βGeo mouse models demonstrated that LSD1 inhibition (via TAK-418) restored neurogenesis, normalized gene expression, and improved cognitive deficits.

 

This project will assess the therapeutic potential of vafidemstat, an LSD1 inhibitor from Oryzon Genomics, in KS. Vafidemstat has demonstrated a favorable safety profile in multiple Phase 1 and 2 clinical trials. While a Phase 1/2 trial for KS (HOPE) is planned, its efficacy in KS remains unknown. This study will conduct pharmacokinetics/pharmacodynamics (PK/PD) analysis, behavioral assessments, and neurogenesis studies to evaluate its therapeutic impact in the Kmt2d+/βGeo mouse model.

November 2023

Dr. Jacqueline Harris, MD, Prof. Margaret Adam, MD, Prof. Rosanna Weksberg, MD, PhD, Prof. Olaf Bodamer, MD, PhD, Dr. Evdokia Anagnostou, MD


The Kabuki Syndrome Foundation established this collaborative clinical research study to develop and validate outcome measures and biomarkers for Kabuki syndrome clinical trials. In the first phase, the Consortium aims to enroll 150 individuals with KS across four sites in North America. This phase focuses on validating three candidate response biomarkers—DNA methylation signature, metabolomic profile, and event-related potentials (ERP)—to assess their utility in measuring treatment effects.

 

Learn More About KSOC

October 2023

Prof. Hans Tomas Björnsson, MD, PhD, Prof. Karl Broman, PhD, and Dr. Agnes Ulfig, PhD


The Björnsson laboratory has developed a novel Kmt2d mouse model carrying a human missense mutation, which exhibits more severe Kabuki syndrome (KS) phenotypes—including kidney agenesis in ~50% of cases—compared to the widely used Kmt2d+/βGeo model. Notably, symptom severity decreases when these models are bred onto an FVB background, mirroring variability seen in KS patients with identical genetic variants.

 

To systematically identify genetic modifiers influencing KS severity, the team will cross Kmt2d mutant mice with diverse genetic backgrounds and analyze phenotype variation. Key traits, including survival, body weight, blood glucose, IgA levels, and kidney formation, will be used for modifier mapping. Utilizing tools like the Collaborative Cross, this approach aims to uncover novel therapeutic targets by identifying genetic factors that modulate disease expression.

 

Read a Discovery Grant Update

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