Scribd Logo
Upload

Welcome to Scribd!

  • Wiskott-Aldrich Syndrome Presentation

    Uploaded by

    jbelle009
    214 views16 pages
    1) Wiskott-Aldrich syndrome is a rare immune deficiency disorder caused by mutations in the WAS gene, which encodes the Wiskott-Aldrich syndrome protein. Symptoms include easy bruising, bleeding, infections, and eczema. 2) The WAS gene is located on the X chromosome. Absence of the Wiskott-Aldrich syndrome protein due to mutations in this gene results in reduced platelet count and function as well as defects in immune cells. 3) Potential treatments discussed include genetic analysis to detect mutations, gene therapy using viral vectors like lentivirus to deliver a normal copy of the WAS gene to corrected defects, and stem cell therapy to replace defective immune cells.

    Original Description:

    powerpoint presentaion

    Copyright

    © © All Rights Reserved

    Available Formats

    PPTX, PDF, TXT or read online from Scribd

    Did you find this document useful?

    Is this content inappropriate?

    Report this Document
    1) Wiskott-Aldrich syndrome is a rare immune deficiency disorder caused by mutations in the WAS gene, which encodes the Wiskott-Aldrich syndrome protein. Symptoms include easy bruising, bleeding, infections, and eczema. 2) The WAS gene is located on the X chromosome. Absence of the Wiskott-Aldrich syndrome protein due to mutations in this gene results in reduced platelet count and function as well as defects in immune cells. 3) Potential treatments discussed include genetic analysis to detect mutations, gene therapy using viral vectors like lentivirus to deliver a normal copy of the WAS gene to corrected defects, and stem cell therapy to replace defective immune cells.

    Copyright:

    © All Rights Reserved
    Download as PPTX, PDF, TXT or read online from Scribd
    Flag for inappropriate content
    214 views16 pages

    Wiskott-Aldrich Syndrome Presentation

    Uploaded by

    jbelle009
    1) Wiskott-Aldrich syndrome is a rare immune deficiency disorder caused by mutations in the WAS gene, which encodes the Wiskott-Aldrich syndrome protein. Symptoms include easy bruising, bleeding, infections, and eczema. 2) The WAS gene is located on the X chromosome. Absence of the Wiskott-Aldrich syndrome protein due to mutations in this gene results in reduced platelet count and function as well as defects in immune cells. 3) Potential treatments discussed include genetic analysis to detect mutations, gene therapy using viral vectors like lentivirus to deliver a normal copy of the WAS gene to corrected defects, and stem cell therapy to replace defective immune cells.

    Copyright:

    © All Rights Reserved
    Download as PPTX, PDF, TXT or read online from Scribd
    Flag for inappropriate content
    of 16

    1

    WISKOTT-ALDRICH
    SYNDROME
    GROUP 8
    RACHEL ALFARO
    ALETHEA MENDOZA
    JONNABELLE LACAP
    LEAH MAGTALAS

    Introduction:
    History:
    Alfred

    Wiskott (1937)

    Robert

    Anderson (1954) - Xlinked recessive

    Primary

    Immune Deficiency
    Diseases (1960s)

    What is Wiskott-Aldrich
    syndrome?

    Immune deficiency

    Reduced ability of blood clots

    Increased risk of inflammatory and


    immune disorders

    Causes greater risk of Autoimmune


    Disorders

    1-10 cases/million males

    Rare in females

    Absence of WASP (Wiskott-Aldrich


    Syndrome Protein)

    Missense and frameshift mutations

    Symptoms:

    Microthrombocytopenia (decreased
    number and size of platelets)

    Easy bruising

    Prolonged bleeding followed by trauma

    Recurrent diseases

    Eczema

    Malignancies in leukemia and lymphoma


    occur in severe cases

    Affected Cells:

    T Lymphocytes:
    o

    Causes recurrent viral and fungal


    infections

    B Lymphocytes:
    o

    Causes recurrent bacterial infections


    because proper antibodies are not
    produced against certain bacteria.

    Gene Location:

    Cytogenetic Location: Xp11.4-p11.21

    Molecular Location on the X chromosome: base


    pairs 48,683,796 to 48,691,426

    The WAS gene is located on the short (p)


    arm of the X chromosome between
    positions 11.4 and 11.21.

    More precisely, the WAS gene is located


    from base pair 48,683,796 to base pair
    48,691,426 on the X chromosome.

    10

    Proposed Treatment

    1.Genetic Analysis
    Detection

    PCR

    of mutated gene

    and Karyotyping

    Shows

    result in a screen

    Positive

    or negative

    11

    2. Genetic Therapy

    Gene Therapy is a treatment that


    involves altering the genes inside
    your body's cells to stop the
    disease. With the use of our
    machine we will know what gene is
    affected and will see what form of
    gene therapy to be use.

    12

    Our machine uses the form of gene


    13
    therapy which directly correct a
    mutation, or use DNA that encodes a
    therapeutic protein drug (rather than
    a natural human gene) to provide
    treatment.

    In gene therapy, DNA that encodes a


    therapeutic protein is packaged within
    a "vector", which is used to get the
    DNA inside cells within the body.

    14

    Our machine uses one specific


    vector:

    Recombinant viruses-(sometimes
    called biological nanoparticles or
    viral vectors) it removes the viral DNA
    and uses the virus as a vehicle to
    deliver the therapeutic DNA.
    and adeno-associated virus.

    Example:

    For example the machine is required to


    use Lentiviral vector as a treatment. The
    machine process the patients' own blood
    stem cells and, then used the lentiviral
    vector combined with the normal WASP
    gene to correct the genetic defect in the
    blood. After a special treatment to
    eliminate their defective immune system,
    they received their own blood cells that
    had been altered to contain the normal
    WASP gene

    15

    16

    Sources:

    http://dentistryandmedicine.blogspot.com/2011/
    09/wiskott-aldrich-syndrome-x-linked.html

    http://ghr.nlm.nih.gov/condition/wiskott-aldrichsyndrome

    http://ghr.nlm.nih.gov/gene/WAS

    You might also like