Recent Ad Hoc Grant: Optimizing BHB supplementation for cognitive improvement in Kabuki syndrome

Optimizing BHB Supplementation for Cognitive Improvement in Kabuki Syndrome

Funder: Kabuki Syndrome Foundation

Award Date: January 2025

Award Amount: $45,000

Status: Recently funded

Overview

This project investigates the use of Beta-Hydroxybutyrate (BHB) supplementation for cognitive improvement in Kabuki syndrome type 1.

Research Focus

• Kabuki syndrome type 1 (KS1) caused by mutations in KMT2D gene
• KMT2D's role in regulating chromatin structure and gene expression
• Ketones (such as BHB) as histone deacetylase inhibitors (HDACi)
• Preclinical studies showing promise in rescuing hippocampal memory deficits in KS mouse models
• Recent case study evidence of cognitive improvements and transcriptomic normalization following 12 months of ketogenic diet

Researchers

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

Contact

Email: info@kabukisyndromefoundation.org Address: P.O. Box 214, Northbrook, IL 60065