wiskott-aldrich syndrome presentation

8/10/2019 Wiskott-Aldrich Syndrome Presentation

http://slidepdf.com/reader/full/wiskott-aldrich-syndrome-presentation 1/16

WISKOTT-ALDRICHSYNDROME

GROUP 8

RACHEL ALFARO

ALETHEA MENDOZA

JONNABELLE LACAP

LEAH MAGTALAS

1



Introduction:

History:

Alfred Wiskott (1937)

Robert Anderson (1954) - X-linked recessive

Primary Immune Deficiency

Diseases (1960’s)

2



What is Wiskott-Aldrich

syndrome? Immune deficiency

Reduced ability of blood clots

Increased risk of inflammatory andimmune disorders

Causes greater risk of AutoimmuneDisorders

3



1-10 cases/million males

Rare in females

Absence of WASP (Wiskott-AldrichSyndrome Protein)

Missense and frameshift mutations

4



Symptoms:

Microthrombocytopenia (decreasednumber and size of platelets)

Easy bruising

Prolonged bleeding followed by trauma

Recurrent diseases

Eczema

Malignancies in leukemia and lymphomaoccur in severe cases

5



Affected Cells:

T Lymphocytes:

o Causes recurrent viral and fungal

infections

B Lymphocytes:

o Causes recurrent bacterial infectionsbecause proper antibodies are notproduced against certain bacteria.

6



Gene Location:

Cytogenetic Location: Xp11.4-p11.21

Molecular Location on the X chromosome: basepairs 48,683,796 to 48,691,426

7

http://ghr.nlm.nih.gov/dynamicImages/chromomap/WAS.jpeg



The WAS gene is located on the short (p)arm of the X chromosome betweenpositions 11.4 and 11.21.

More precisely, the WAS gene is locatedfrom base pair 48,683,796 to base pair

48,691,426 on the X chromosome.

8



9



Proposed Treatment

10



1.Genetic Analysis

Detection of mutated gene

PCR 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 thedisease. 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

therapy which directly correct a

mutation, or use DNA that encodes atherapeutic 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 theDNA inside cells within the body.

13

http://en.wikipedia.org/wiki/Vector_(molecular_biology)

http://en.wikipedia.org/wiki/Vector_(molecular_biology)



Our machine uses one specificvector:

Recombinant viruses-(sometimes

called biological nanoparticles orviral vectors) it removes the viral DNA

and uses the virus as a vehicle to

deliver the therapeutic DNA.

and adeno-associated virus.

14

http://en.wikipedia.org/wiki/Adeno-associated_virus






Example:

For example the machine is required touse Lentiviral vector as a treatment. Themachine process the patients' own bloodstem cells and, then used the lentiviral

vector combined with the normal WASPgene to correct the genetic defect in theblood. After a special treatment toeliminate their defective immune system,

they received their own blood cells thathad been altered to contain the normalWASP gene

15



Sources:

http://dentistryandmedicine.blogspot.com/2011/

09/wiskott-aldrich-syndrome-x-linked.html http://ghr.nlm.nih.gov/condition/wiskott-aldrich-

syndrome

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

16

wiskott-aldrich syndrome presentation

Documents