Juan Felipe Giraldo Aristizábal

Medicine Student

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INTRODUCTIO

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• Gene therapy is the

use of DNA as a

pharmacological

agent in order to alter

certain parts of the

genome of a life

being that are

mutated or

dysfunctional, to

repair the protein non

efficient synthesis.

Gene Therapy Using Lentivirus to Treat Wiskott-Aldrich

Syndrome Promising

Gene Therapy Using Lentivirus to Treat Wiskott-

Aldrich Syndrome Promising

• The Wiskott-Aldrich Syndrome is

caused by a mutation in a gene

that encodes the protein WASP.

• The most often used therapy is

a bone marrow or stem cell

transplant from a matching

donor, and can be curative

mostly for those whose donor is

strongly matched.

Gene Therapy Using Lentivirus to Treat Wiskott-

Aldrich Syndrome Promising

An alternative is to use a form of retrovirus using gene therapy in the

laboratory and apply it to the blood cells previously obtained from the patient

so the retrovirus can correct the defect, and then give the corrected cells

back to the patient.

Gene Therapy Using Lentivirus to Treat Wiskott-

Aldrich Syndrome Promising

This approach has been successful in

a number of diseases, including who

had Wiskott-Aldrich Syndrome.

However, over the long term, some

patients with immune deficiencies,

including those with Wiskott-Aldrich

Syndrome, developed blood cancers.

In this new research, the team used

a partially inactivated lentivirus to

take the normal gene into the cell,

while reducing the risk of the gene

inserting next to a cancer-

promoting gene.

This type of treatment instead of

previous treatments using gene

therapy with retroviruses is an

amazing option for this type of

patients, considering the lower risk

of developing a cancer or other

collateral diseases. This gene

therapy also allows the patients to

have a more normal and

comfortable life increasing their life

quality.

Gene Therapy Cures a Severe Pediatric

Neurodegenerative Disease in Animal Models

Gene Therapy Cures a Severe Pediatric

Neurodegenerative Disease in Animal Models

• Sanfilippo Syndrome type A, is

a neurodegenerative disease

caused by mutations in the

gene that encodes the enzyme

sulfamidase.

• The accumulation of

glycosaminoglicans in the cells

causes neuroinflammation

and organ dysfunction.

Gene Therapy Cures a Severe Pediatric

Neurodegenerative Disease in Animal Models

A team of researchers of the

UAB's Centre for Animal

Biotechnology and Gene

Therapy (CBATEG), has

developed a gene therapy

treatment that cures this disease

in animal models, with pre-

clinical studies in mice and dogs.

The treatment consists of a single

surgical intervention in which an

adenoassociated viral vector, which is

completely harmless, is injected into the

cerebrospinal fluid, the liquid that

surrounds the brain and the spinal cord.

Gene Therapy Cures a Severe Pediatric

Neurodegenerative Disease in Animal Models

Once the enzyme's activity is

restored, glycosaminoglican levels

return to normal for life, their

accumulation in cells disappears,

along with the neuroinflammation

and dysfunctions of the brain and

other affected organs, and the

animal's behaviour and its life

expectancy return to normal.

It’s overwhelming how the gene

therapy has gone so far to the point of

cure once and for all a

neurodegenerative disease like

Sanfilippo Syndrome type A. Although

the treatment has not being studied in

humans, the fact that it has been

successful in animal models leaves us

with great expectations of what’s

coming next.

• Baylor College of Medicine (2013, July11). Gene therapy using lentivirus to treatWiskott-Aldrich Syndromepromising. ScienceDaily. Retrieved July22, 2013, fromhttp://www.sciencedaily.com­/releases/2013/07/130711142403.htm

• Universitat Autònoma de Barcelona (2013, July 2). Gene therapy cures a severepediatric neurodegenerative disease in animal models.ScienceDaily. RetrievedJuly 22, 2013, fromhttp://www.sciencedaily.com­/releases/2013/07/130702100344.htm

THANKS

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