UCSD ABMGG Laboratory Fellowship Program



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Clinical Biochemical Genetics ‐ The Specialty Lab rotations will consist of monthly blocks rotating through the general areas of lab service. This exposure will teach the basic skills of sample extraction, partial purification, derivitization and determination of concentration and calculation of recovery. It will also expose the trainee to the rigorous application of quality control, quality assurance, and standardization. The rotation in amino acids will introduce concepts of sample processing and interpretation of complex patterns, using well‐established methodology (HPLC with post‐column derivitization). The rotation in organic acids will introduce more involved sample preparation and GC‐MS technology, with issues related to calibration of complex mixtures and matrices. The rotation in acylcarnitines will introduce tandem mass spectrometry, precursor‐, product‐ and neutral loss‐scans, as well as multiple reaction monitoring, The rotation in purine and pyrimidines and specialized assays (tandem mass spec assays of analytes such as coenzyme Q10, enzyme assays of HGPRT and other cellular activities) will apply more advanced mass spectrometry and other types of assays. There will also be a month of advanced mass spectrometry application through involvement in metabolomics projects (targeted and untargeted). Each Specialty Lab rotation in Biochemical Genetics Program will include mentored time to write interpretations, review clinical metabolic status, and have consultation conversations with referring physicians for cases where appropriate. That time will also include participation in a one‐hour session with technical lab personnel on Wednesday for quality assurance and case review, and in the second half of the year, the signout sessions will evolve to involve more lab oversight, discussing method development, policies, and finances of the Clinical Biochemical Laboratory. There will be a month rotating through the Cytogenetics Lab and a month in the Molecular Genetics Lab. The trainee will participate in the pre‐clinic planning conference on Thursday afternoons and in most cases in the Metabolic/ Biochemical Genetics Clinics at Rady Children's Hospital, except during months when rotating through the Cytogenetics Lab or Molecular Genetics Lab services. Trainees in the two year program (who will not have had the rotations during earlier training) will rotate through Prenatal Diagnosis Clinic and Multi‐Specialty Clinics, as indicated in Blocks 6 and 7. The trainee will interact with the Director daily to sign off on interpretations in all areas of the lab (not only the area of concentration that month). This will teach the importance of the post‐analytical phase of processing. Further, critical results or interesting samples will be discussed with the referring client physician immediately, by phone in the case of critical results, and by fax and/or email subsequently in those cases or in all other cases of interest.