Okur-Chung Neurodevelopmental Syndrome Joint Scientific and Family Conference

Okur-Chung Neurodevelopmental Syndrome (OCNDS) is a recently described (2016) rare neurodevelopmental disorder. OCNDS results in a spectrum of intellectual disability, developmental delay, and epilepsy. There are over 130 patients reported in the literature/online databases, and ~340 within the CSNK2A1 Foundation registry. There is no cure for OCNDS patients with treatment limited to anti-convulsant, speech, and physical therapies.

OCNDS is caused by mutations in the CSNK2A1 gene, which encodes the alpha subunit of the casein kinase 2 (CK2) protein complex. CK2 is a ubiquitous kinase that phosphorylates hundreds of substrates and has implications for human viral infections, cancer, neurodevelopmental disorders, autoimmune disorders, cardiovascular diseases, and diabetes. Currently, CK2 function in neurons remains poorly understood and little is known about how patient variants, particularly missense variants, affect CK2 function. As such, there is a need to assemble scientists and clinicians from the fields of genetics, neurology, epilepsy, movement disorders, model development, and drug discovery to accelerate OCNDS research and therapeutic development.

The 2025 OCNDS Joint Scientific and Family Conference will be held in Denver, Colorado on July 17-20. This meeting will be hosted by the CSNK2A1 Foundation, which is the only OCNDS-focused patient advocacy group. Experts in their respective fields will be brought together with families with affected children to synergize research efforts. Speakers and attendees will present data, discuss progress and setbacks, set research priorities, and refine the current roadmap to better understand disease mechanism and to develop treatments for OCNDS and related disorders.

Trainees and junior faculty will be targeted for attendance and will be encouraged to submit abstracts for presentation and travel award consideration. Following dissemination of the 2025 conference results, we plan to continue an annual virtual format and an in-person meeting every 2-3 years to maintain collaborations between investigators and continue momentum forward in realizing transformative treatments for OCNDS.

Grant Number: 1R13HD120072-01
NIH Institute/Center: NIH
Principal Investigator: Rachel Bailey