Engage in Research Opportunities
- IRB Approved International Registry for CSS and Related Disorders (ARID1A, ARID1B, ARID2, BICRA, DPF2, SMARCA4, SMARCB1, SMARCC2, SMARCD1, SMARCE1, SOX4, SOX11)
Contact: Dr. Vergano, Seattle Children’s Hospital cssregistry@seattlechildrens.org
- Simon’s Searchlight (ARID1B, SMARCA4, SMARCC2)
Contact: www.simonssearchlight.org
Eligibility: gene change in ARID1B, SMARCA4, SMARCC2
- ARID1B Neurodevelopmental Study
Contact: Drs. Como-Lesko and Keener, ARID1Bstudy@chkd.org
Eligibility: ages 2-20, ARID1B gene change, 3-4 hour battery of assessments (not in one sitting) over Zoom, can understand the English language and follow directions (within reason, cooperation and behavior is part of the assessment). Need to be enrolled in CSS registry to participate (cssregistry@seattlechildrens.org).
- CSS Epigenetics Study (ARID1A, ARID1B, ARID2, BICRA, DPF2, SMARCA4, SMARCB1, SMARCC2, SMARCD1, SMARCE1, SOX4, SOX11)
Contact: Dr. Miller, UW/SCH, millerlabresearch@uw.edu
Eligibility: known gene change in CSS related gene, live in US
- CARE4ARID1B Natural History Study
Contact: arid1b@mail.huji.ac.il, careforarid1b.org
Eligibility: ages 2-18, ARID1B gene change, study will take place at seven sites that are part of the CARE4ARID1B consortium. These sites are located in Stockholm (Sweden), Düsseldorf (Germany), Istanbul (Turkey), Verona (Italy), Lyon (France), Montreal (Canada), and Jerusalem (Israel).
- CSS Dental Research (UK)
Contact: a.mcneill@sheffield.ac.uk
Eligibility: ages 16 and under, gene change in CSS related gene, live in UK
- BINGO (Brain and Behaviour in Neurodevelopmental Disorders of Genetic Origin), UK
Contact: https://www.mrc-cbu.cam.ac.uk/bingo/#register2
Eligibility: Recruiting children, young people, and adults (aged 8 years old and above) based in the UK with a genetic diagnosis from the following list: ACTB, ACTL6B, ARID1A, ARID1B, ARID2, ATRX, BICRA, DPF2, SMARCB1, SMARCA2, SMARCA4, SMARCC2, SMARCE1, SMARCD1.
- CSS Sleep Research (no longer taking enrollments)
Contact: Dr. Chen, Seattle Children’s Hospital, jade.turner@seattlechildrens.org
Eligibility: parents/legal guardians of children with a diagnosis of CSS ages 0-18
Coming Soon!
- Intractable Epilepsy Study (Details TBD!)
Contact: Dr. Lockrow (SCH Neurology), Dr. Ciliberto (Iowa), Dr. Feyma (Minnesota), Dr. Vergano (SCH Genetics)
PLEASE CONTACT US IF WE ARE MISSING KNOWN ENROLLMENT OPPORTUNITIES. foundation@coffinsiris.org
Other Resources
CSS Clinic
The CSS clinic is now operating out of Seattle Children’s Hospital and is welcoming new in-person clinic patients. This clinic is designed to evaluate, recommend treatment, and manage patients that have one of the rarest multiple-congenital anomaly syndromes. The Foundation has helped to defray the cost of this clinic for patients on a case by case basis. From 2017-2024, Children’s Hospital of The King’s Daughters (CHKD) in Norfolk, Virginia operated a Coffin-Siris Syndrome Program.
CSS Registry
The IRB Approved International Registry for CSS and related disorders is a clinical database that aims to look at the growth, development, and medical issues of individuals with CSS. An individual is eligible to be enrolled if he/she has genetic testing that has identified a disease-causing variant in any of the genes that are associated with CSS (ARID1A, ARID1B, ARID2, BICRA, DPF2, SMARCA4, SMARCB1, SMARCC2, SMARCD1, SMARCE1, SOX4, and SOX11). Participation in the registry makes a significant impact on the research that can happen down the road for this community.
There is no bloodwork or travel needed in order to enroll. For more information, please contact cssregistry@seattlechildrens.org.
NATIONAL ORGANIZATION
FOR RARE DISORDERS
NORD acts as a central clearing house for information related to all rare diseases, including CSS. The NORD summary is a good source for basic information on Coffin-Siris Syndrome.
medical advisory Board Vaccine statement
Here is a recommendation from our Medical Advisory Board regarding broad vaccination recommendations among individuals with CSS; updated January 2026.
FACEBOOK GROUP FOR FAMILIES
In addition to the Foundation’s Facebook presence, there is a Facebook group just for families affected by CSS that facilitates connections. If you haven’t already found your tribe around CSS, we encourage you to join. (This group is not managed by the Foundation)