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Rady Children's Specialists

Genetics / Dysmorphology

Services

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)