Wiskott-aldrich Syndrome Presentation 31o3s
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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 (1960’s)
2
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
3
4
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
5
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.
6
Gene Location:
Cytogenetic Location: Xp11.4-p11.21
Molecular Location on the X chromosome: base pairs 48,683,796 to 48,691,426
7
8
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.
9
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
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 (1960’s)
2
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
3
4
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
5
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.
6
Gene Location:
Cytogenetic Location: Xp11.4-p11.21
Molecular Location on the X chromosome: base pairs 48,683,796 to 48,691,426
7
8
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.
9
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
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