Center for Brain Development
California Institute for Regenerative Medicine (CIRM)
Tissue Collection for Neurodevelopmental Disabilities
We propose to ascertain a range of neurodevelopmental disabilities (NDDs) and generate a tissue library linked to specific NDD features, and in most cases backed by brain imaging, research grade phenotypic assessment, and complete genetic sequencing. The project has multiple collaborators through the California Institute for Regenerative Medicine.
The induced pluripotent stem cells (iPSCs) will be banked with the Coriell Institute for Medical Research. The iPSC library will provide researchers the ability to associate cellular phenotypes across a spectrum of patient symptoms.
We plan to recruit 550 patients; 450 affected patients and 100 control patients.
Patients who meet one (or more) of the following criteria will be enrolled.
1. Autism or autism spectrum disorder (ASD)
2. Childhood onset severe epilepsy (COSE)
3. Signs and symptoms of genetic forms of cerebral palsy (CP)
Children and adults who meet one of the following criteria will be enrolled.
1. Healthy aged matched children (for population comparison)
2. Healthy family members (for matched comparisons)
1. University of California, San Diego (UCSD)
2. Rady Children's Hospital San Diego (RCHSD)
Collaborating Labs and Clinics
1. Joseph Gleeson, MD - Center for Brain Development (UCSD)
2. Jonathan Sebat, PhD - REACH study at the Autism Discovery Unit (RCHSD)
3. Eric Courchesne, PhD - Autism Center for Excellence (UCSD)
4. Keith Vaux, MD - Undiagnosed Neurogenetic Disease Program (RCHSD)
5. The Neurology and Genetics clinics (RCHSD)
Patients will undergo either a blood draw or a skin biopsy
- Affected patients: 225 blood, 225 skin
- Control patients: 58 blood, 42 skin
Clinical data will be collected through physical exam, medical record extraction, and family interview. Data to be collected ar
- Demographic information (age, race, ethnicity etc.)
- Medical information (diagnosis, neonatal data, medications etc.)
- Diagnostic information (as available: brain MRI, EEG, Vineland, ADOS)
- Genetic profile (either whole genome or whole exome sequencing)
- Existing cell lines, fibroblasts or hiPS cells (culture history, karyotype etc.)
Specimens will be prepared for shipment by the Gleeson lab. Blood samples will be sent to Quest Laboratories for processing and then to Cellular Dynamics International (CDI) for iPSC generation. Skin samples will be sent directly to CDI for iPSC generation.
Then, all iPS cells will be banked at the Coriell Institute for future distribution.
If you believe that your child meets criteria for this project either as an affected patient or a control patient and you would be interested in participating with your child or would like more information, please feel free to contact us with questions. A study team member will speak with you to determine if you and your child are eligible to participate.
If you are a physician in the San Diego area and have a patient you believe meets criteria for the project please feel free to contact us to discuss the patient's eligibility. If we are able to recruit the patient we can arrange to perform the blood draw or skin biopsy.
If you are a physician outside of the San Diego area and have a patient that you believe meets criteria for the project you can also contact us to discuss the patient's eligibility. If we are able to recruit the patient we would need to ask for your help in obtaining the blood draw or skin biopsy from the patient and other relevant clinical information.
Feel free to contact us with your questions.
Referring physicians and parents can email CIRMNDD@ucsd.edu or call 858-822-3786.
Parent Permission Form