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The goal of our research is to understand all of the factors that contribute to assembly and function of the human brain. When there is a particular gene that is mutated in a child, especially if the child inherits both copies of the mutated gene, then it is possible to attribute the child's disease to the function of the missing gene. Deciphering all of the genes that contribute to brain development requires a worldwide effort, as it is immensely more complicated than focusing on a single syndrome. We compare the scale of the problem to the groundbreaking work of, for instance, Brown and Goldstein, who were awarded the Nobel Prize in 1985 for the discovery of the genes that contribute to human cholesterol metabolism, and consider that there should be many orders of magnitude more causes and interactions for human brain development. Through our collaborative network, we have one of the largest experiences in 'exome' sequencing to advance discovery of new causes of neurodevelopmental disorders. We are currently recruiting participants for research studies investigating the genetic causes of pediatric neurological brain disorders.


Working with a dedicated and collaborative group of physician-scientist counterparts throughout the world, our lab has contributed to the identification of over 50 new causes of pediatric brain disease. Gleeson's clinical experience in the field of child neurology proved that most children cannot receive a complete and accurate diagnosis, and thus cannot receive the most precise care. Our efforts to advance knowledge in the area of brain disease are entirely indebted to the physicians who refer appropriate patients for study, their dedicated assistants and research staff who help ascertain and solve medical mysteries in the field of child neurology. We are also deeply indebted to the families that agree to participate in research, completely voluntarily, if not to help their own child then to help other children suffering from the same condition.

One of the completely unexpected findings of our work is there are many pediatric neurodevelopmental disorders that are considered untreatable, for which accurate diagnosis can reveal a new potential treatment. This is a breakthrough in the neurodevelopmental field, because there are so few known treatable diseases in the field of child neurology. For instance, the lab identified mutations in patients with epilepsy and autism in the BCKDK gene, predicting and later proving a benefit from dietary supplementation with specific amino acids. The lab identified mutations in patients with a neurodegenerative disease involving the cerebellum due to mutations in AMPD2, predicting benefit from the dietary supplementation AICAR. Finally the lab identified mutations in patients with a severe form of cortical dysplasia in the PIK3CA, AKT3 and MTOR gene, predicting benefit from the pharmacological class of mTOR inhibitors. We are thrilled that clinical trials are starting to demonstrate the pharmacological benefits of these predicted treatments, in conditions previously considered untreatable.


We are currently recruiting participants for research studies investigating the genetic causes of pediatric neurological brain disorders. We are particularly interested in structural brain disorders like microcephaly, lissencephaly, cortical dysplasia, Joubert syndrome and also non-syndromic mental retardation, recessive forms of epilepsy, and hereditary spastic paraparesis. Recently, we have been interested in meningomyelocele (open spina bifida). If you happen to follow any such families in which there are two or more affected children together with parental consanguinity in which the cause is not known or likely to be novel, please contact us.


Patients diagnosed with a brain developmental disorder and their family members.
Blood, saliva, or DNA samples from patients, parents, and any brothers and sisters.
Brief family history questionnaire.
Copy of medical records and any MRI or CT scans (if requested).


General Consents (FCD, Spina Bifida, HPDL, Aicardi blood draw): 

Child Consent- Parent Permission Form 
Adolescent Assent Form (Ages 13 - 17)
​Child Assent Form (Ages 7 - 12)

Adult Consent Form 
Affected Adult Consent Form 
Intended Parent Blastocyst Consent Form
Parent of a Non-viable Fetus Consent Form 

Skin Biopsy Consents (Aicardi stem cells): 

​Skin Biopsy- Parent Permission Form 
Skin Biopsy- Adolescent Assent Form (Ages 13 - 17)

Skin Biopsy- Child Assent Form (Ages 7 - 12)
Skin Biopsy- Adult Consent Form

Rady Children's Hospital Consents: 

Rady Children's - Parent Permission Form
Rady Children's - Adult Consent Form

UCSD Human Subjects Bill of Rights