Center for Brain Development


California Institute for Regenerative Medicine (CIRM)

Tissue Collection for Neurodevelopmental Disabilities

Mission

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.

Patients

We plan to recruit 550 patients; 450 affected patients and 100 control patients.

Inclusion Criteria

Patient population:

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)

Control population

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)

Recruitment

Collaborating Sites:

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)

Data Collection

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.)

Specimen Banking

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.

For Parents

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.

For Professionals

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.

Contact

Referring physicians and parents can email CIRMNDD@ucsd.edu or call 858-822-3786.

Consent Forms

Parent Permission Form

Adolescent Assent

Child Assent

Adult Consent