The most direct way to help your patient with a structural brain disorder arrive at a genetic diagnosis is to enroll the patient into our approved study protocol. You can find specific information about how to enroll your patient at our laboratory website, including all consent forms, instructions for phlebotomy and shipping samples to the Gleeson lab, all at no cost to the patient.
This project seeks to engage physicians around the country and around the world caring for patients with structural brain disorders. If you are caring for a patient with such a condition, we urge you to review information on individual conditions available from publicly funded enterprises including:
NINDS Disorders website: Information on specific neurological diseases
GeneReviews: Comprehensive information on genetic conditions
Online Mendelian Inheritance of Man (OMIM): Detailed information on specific Mendelian diseases
PUBMED: Searchable database of the whole medical literature
A number of collaborative agreements have been established to support this project. Project 1 has obtained agreements from several local and state-wide institutions in support of this project.
- Rady Children's Hospital has agreed to provide bioinformatics support to identify patients with structural brain disorders appropriate for study, in both retrospective and prospective fashions, as well as support for enrolling patients into our study and for phlebotomy.
- Kaiser Permanente Southern California has agreed to provide bioinformatics support to identify patients with structural brain disorders from their entire patient population of over 3 million individuals.
- The California Birth Defects Monitoring Program (CBDMP), which maintains neonatal Gutherie blood spots on all newborns in the state since 1986, has agreed to search their entire database of medical records (updated with all birth defects noted by 1 year of age), consisting of 10-15 million individuals, and provide blood spots for our study.