# 2024 KARES Family and Science Conference

> **NIH NIH R13** · ALBERT EINSTEIN COLLEGE OF MEDICINE · 2024 · $10,000

## Abstract

Abstract
Genetic variants in the gene encoding the transcriptional regulator KDM5C cause the rare intellectual disability
disorder (IDD) Claes-Jensen Syndrome. Features of those with Claes-Jensen Syndrome include, but are not
limited to, intellectual disability, speech impairment, seizures, autism spectrum disorder, difficult
behavior/aggression, and short stature. Many of these features have significant quality of life consequences for
both the affected individual and caregivers. While the direct link between loss of function variants in KDM5C
and altered cognition and behavior is clear, how KDM5C functions to orchestrate gene expression programs
that mediate critical neuronal processes, and therefore the consequence of variants for mechanisms of IDD,
remains unknown. The lack of fundamental knowledge regarding KDM5C has left patients and caregivers with
limited options regarding targeted and standardized treatment options. This initially led to the formation of a
KDM5C support group on Facebook in 2017, and to the formation of a non-profit the KDM5C advocacy
research education and support (KARES) foundation in 2022. In its first year of existence, the KARES
Foundation began data collection program through RARE-X/Global Genes, hosted a virtual KDM5C research
update and raised sufficient funds to support a pilot project grant to develop a robust biomarker for KDM5C.
We now seek funds to help support the first KDM5C focused conference that will bring together families,
researchers, and clinicians with the overarching goals of promoting research and developing clinical best
practices for treating affected individuals.

## Key facts

- **NIH application ID:** 10894485
- **Project number:** 1R13TR005087-01
- **Recipient organization:** ALBERT EINSTEIN COLLEGE OF MEDICINE
- **Principal Investigator:** Julie Secombe
- **Activity code:** R13 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2024
- **Award amount:** $10,000
- **Award type:** 1
- **Project period:** 2024-04-05 → 2025-03-31

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10894485

## Citation

> US National Institutes of Health, RePORTER application 10894485, 2024 KARES Family and Science Conference (1R13TR005087-01). Retrieved via AI Analytics 2026-05-27 from https://api.ai-analytics.org/grant/nih/10894485. Licensed CC0.

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