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


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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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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


Carlos a saavedra matiz md nysdoh nbs program dna lab

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)


Carlos a saavedra matiz md nysdoh nbs program dna lab

Multiple genotypes of SCID


Carlos a saavedra matiz md nysdoh nbs program dna lab

SAMPLES ARE PUNCHED INTO 96-WELL PLATES

Wadsworth Center


Duplex amplification plots

Duplex Amplification Plots

TREC Amplification plot

RNase P amplification plot

ADA

ADA


Carlos a saavedra matiz md nysdoh nbs program dna lab

From Sept 29, 2010 to April 30, 2012: 382,406 infants screened

No false negative cases


Carlos a saavedra matiz md nysdoh nbs program dna lab

Overall PPV = 18.7%

Classic SCID PPV = 2.1%


Carlos a saavedra matiz md nysdoh nbs program dna lab

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


Carlos a saavedra matiz md nysdoh nbs program dna lab

Figure S1 Process overview

doi:10.1038/nature10242 RESEARCH SUPPLEMENTARY INFORMATION


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