Precision Diagnosis
- Comprehensive neurological and dysmorphology phenotyping
- Review/re-curation of prior genetic data
- Diagnostic studies (genetic, metabolic, imaging, other)
- Result interpretation
- Evaluation of genotype/phenotype correlation via literature and genomic database review, external expert opinion and/or collaboration with external clinical or research groups
- Functional studies
- Establishment of research collaborations for functional studies not clinically available
Precision Therapy
- Comprehensive neurological and dysmorphology phenotyping
- Review/re-curation of prior genetic data
- Diagnostic studies (genetic, metabolic, imaging, other)
- Evaluation of genotype-phenotype correlation via literature and genomic database review, external expert opinion and/or collaboration with external clinical or research groups
- Functional studies
- Consultation and recommendations regarding:
- Trials of previously reported efficacious agents.
- Trials of approved agents targeted to biologic mechanism (e.g. existing clinical trials offered at UCSD/RCHSD or at another institution).
- Development of novel therapies in collaboration with research laboratories and/or pharmaceutical companies
All patients will be required to 1) Consent for participation in Genomic Sequencing in Neurological Disorders research protocol (UCSD IRB #170437) study including photographs, video and minimum blood/DNA sample to facilitate diagnosis and/or therapeutic plans. 2) Complete pre-clinic intake (consent, pedigree, clinical information packet, detailed prior records)