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Carlos A. Saavedra-Matiz , MD NYSDOH-NBS Program DNA Lab

David Phillip Vetter ( Sept 21 , 1971 – Feb 22 , 1984 ) . Carlos A. Saavedra-Matiz , MD NYSDOH-NBS Program DNA Lab. NYMAC Albany, NY June 4-5, 2012. Immune System (IS) Function: Recognize and eliminate invading foreign organisms and molecules

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Carlos A. Saavedra-Matiz , MD NYSDOH-NBS Program DNA Lab

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  1. David Phillip Vetter(Sept 21, 1971 – Feb 22, 1984) Carlos A. Saavedra-Matiz, MD NYSDOH-NBS Program DNA Lab NYMAC Albany, NY June 4-5, 2012

  2. Immune System (IS) Function: Recognize and eliminate invading foreign organisms and molecules Peripheral Blood Lympochytes (IR or immune response): T Cells: Undergo differentiation in the thymus. Cellular IR B Cells: Undergo differentiation in the bone marrow. Humoral IR Lymphatic Organs: Primary: Thymus and bone marrow Secondary: Lymph nodes and spleen “An extremely efficient, genetically complex IS has evolved. Its development and function are regulated by genes of extraordinary diversity.” - Antibodies (Immunoglobulines) - Antigen-antibody binding - Antigen Receptors (TCR)

  3. Multiple genotypes of SCID

  4. SAMPLES ARE PUNCHED INTO 96-WELL PLATES Wadsworth Center

  5. Duplex Amplification Plots TREC Amplification plot RNase P amplification plot ADA ADA

  6. From Sept 29, 2010 to April 30, 2012: 382,406 infants screened No false negative cases

  7. Overall PPV = 18.7% Classic SCID PPV = 2.1%

  8. The Ion Torrent Personal Genome Machine (PGMTM) sequencer enables researchers to obtain highly accurate sequence in record time.

  9. Figure S1 Process overview doi:10.1038/nature10242 RESEARCH SUPPLEMENTARY INFORMATION

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