Learn more about our Patient Population and Community.

It is important to our organization that researchers utilizing our patient data for studies or research,

are willing to collaborate with the rest of the scientific community and share their findings, so that their work can best serve our families.

Watch the Video on the left to learn more about our Kids and Families.

Click below to learn about our Community Needs and see the identified target areas for research.

Patient Registry & Natural History

The SMC1A Foundation has an internal Family Contact Registry for our patient population. Access to a larger patient population and data capture is available, and if applicable and research is aligned with our Community’s goals, additional data is feasible to collect. 

SMC1A Internal Natural History  – this data is available for researchers if research objectives and data use align with our community needs.

Limited data is available in CoRDS and  Citizen Health

Published articles can be accessed here

Bio Samples

Small number of patients cell lines are collected from our community and can be requested from the below institutions. Please contact info@smc1a-epilepsy.org for more information.

LCLs –  CHOP, Dr.Antonia Musio CNR Italy 

iPSCs – UW, Seattle Children’s (ISCRM), Coriell.

Fibroblasts – Coriell, University of Arizona.

Disease models – SMC1A disease mimicking brain organoid (patient + control) is at UW.

Animal Model

Conditional SMC1A knockout mouse strain is available at GemPharmaTech. 

Jax Lab has a model.  These models can be helpful in studing some aspects of this disease.