Research

This page lists some research groups known to have an interest in KDM5C.

USA

The KARES Foundation aims to support science that will ultimately target treatments for KDM5C genetic variants.

Albert Einstein College of Medicine, Department of Genetics, Secombe Lab Note: The lab is at the forefront of research into the KDM5 family of genes.

Publication May 2021: Caregiver-reported characteristics of children diagnosed with pathogenic variants in KDM5C

Publication Sept 2021: Molecular and cellular events linking variants in the histone demethylase KDM5C to the intellectual disability disorder Claes-Jensen syndrome

Publication June 2024: KDM5-mediated transcriptional activation of ribosomal protein genes alters translation efficiency to regulate mitochondrial metabolism in neurons

University of Michigan Medical School, Human Genetics Department, Chromatin Neurobiology Lab

The lab operates the KDM5C Patient Registry to support research into potential treatments - please consider registering with this.

The lab hosted an Educational Conference for Rare Disease Day 2022 which included sessions covering KDM5C. Slides and video recordings of the event are available here

Johns Hopkins University School of Medicine, Department of Genetics, McKusick-Nathans Institute of Genetic Medicine and Department of Pediatrics

Publication May 2021: Mendelian Disorders of the Epigenetic Machinery: Tipping the Balance of Chromatin States

Italy

CNR Institute of Genetics and Biophysics, Naples

Publication Nov 2022: Expanding the genetics and phenotypic spectrum of Lysine- specific demethylase 5C (KDM5C): a report of 13 novel variants

France

Centre Hospitalier Universitaire, Dijon, Bourgogne, Centre de Genetique

Publication April 2020: Further delineation of the female phenotype with KDM5C disease causing variants: 19 new individuals and review of the literature

UK

Wellcome Sanger Institute, KDM5C page from the DECIPHER database Note: DECIPHER is an international database of over 49,000 patients with genetic variations. There are currently 137 patients in the database with a variation in KDM5C.

Wessex Clinical Genetics Service, University Hospital Southampton NHS Foundation Trust, Southampton

Publication: A Kdm5c mutation and the diagnostic odyssey

The Netherlands

Leiden University Medical Centre, KDM5C homepage from the LOVD3 database