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 aligns with our community needs.
Limited data is available in CoRDS and Ciitizen / Invitae
Published articles can be accessed here
Bio Samples
Small number of patients cell lines are collected from our community and can be requested from below institutaions. Please contact info@smc1a-epilepsy.org for more information.
LCLs – Dr. Ian Krantz CHOP, Dr.Antonia Musio CNR Italy , Coriell.
iPSCs – UW, Seattle Children’s (ISCRM), Coriell.
Fibroblasts – Coriell.
Disease models – SMC1A disease mimicking brain organoid (patient + control) is at UW.