Choose two human genetic diseases: 1. A disease that could be treated using stem

Question

Choose two human genetic diseases:

1. A disease that could be treated using stem cell therapy

2. A disease that could be treated using gene therapy/ genetic engineering

Must Include how you might possibly cure the disease using either stem cell therapy or gene therapy. And address all the following points:

1- Disease mechanism

2- Symptoms

3- Stem cell therapy: discuss the different types and your method in detail

4- Gene therapy: discuss your method in detail

5- Describe the challenges that need to be addressed prior to them “ curing” the disease

6- Mention any ethical issues that need to be addressed

Explanation / Answer

Genetic diseases

Genetic diseases are those diseases that are located and marked at the genetic levels. There are a number of them which could be treated using many advanced techniques. Two of them are as discussed below:

Sickle cell anemia

Sickle cell anemia is an example of an autosomal recessive trait.

Underlying genetic causes to the disease;

The disorder is an autosomal linked recessive trait that can be inherited from the parents to the offsprings under the conditions when both the parents are carriers that is the heterozygous conditions for the disease is marked. In this defect the substitution of the glutamic acid occurs by the amino acid valine at the sixth position of the beta globin chain of the hemoglobin. Due to this substitution, the hemoglobin becomes defective and mutant. It then undergoes a polymerization under the low oxygen tension thereby causing the change in the shape of the RBC(Red blood cells) thus becoming sickle shaped from that of a biconcave disc.

Hence the overall oxygen carrying capacity gets impacted and hence leads to the outbreak of the disorder.

Symptoms:

A number of symptoms are associated with the sickle cell anemia. They are as listed below:

Treatment method:

Though the transmission of the disease is at the genetic level; the disease yet can be treated with therapy methods like stem cell therapy.

The treatment method involves the replacement of the bone marrow of the host cells. This is due to the fact that the origin of the blood cells occurs in the bone marrow itself. So if the bone marrow of the affected individual is replaced with that of a healthy donor, the problem can be cured. Success rate also is reported for this disease. In the treatment method, bone marrow transplants are done. However before the commencement of the transplantation; chemotherapy is given to the host cells so as to destroy all the remnant of the previous cell so as it is then replaced with that of the donor cell.

There are different types of the stem cells therapy. The most commonly employed is the bone marrow therapy. Other types include;

ADA deficiency

ADA stands for Adenosine deaminase deficiency.

Introduction:

Adenosine deaminase is an enzyme which is crucial for our immune system to function effectively. In this genetic disorder, an affected person lacks this enzyme. This occurs due to the deletion of the gene coding for the enzyme; adenosine deaminase.

Symptoms:

The disease can be characterized by symptoms like-

Rashes widely spread over the skin

Pneumonia

Diarrhea

Delay in the developmental stages

SCID (Severe Combined Immune Deficiency) which is marked by the absence of B and T cells

Treatment method:

The disorder can be treated by two ways;

Introduction to the gene therapy:

Gene therapy includes a method of treatment of a disorder which includes collection of the methods that allows correction of a gene defect that has been diagnosed in the affected individual. In this method, the genes are inserted into the body of the person in order to treat the diseases.

Correction of the genetic disorder involves the delivery of a normal gene into the body of an organism or an individual to take over the function of and compensate for the non functional gene.

Gene therapy is of two types;

Eventually the first clinical case of gene therapy was given to a four years’ old girl in 1990 who was suffering from ADA deficiency.

Challenges faced to treat the disease;

The first step towards the gene therapy includes the removal of the lymphocytes from the blood of the patient and growing them in the culture outside the body. However it is not curative as the lymphocytes are of finite life span and it requires the periodic infusion of the blood from the body of these patients.

Thus an alternative to this was the identification of the ADA deficiency in the early embryonic stages and likewise their replacement with that of the fresh gene which is fully functional.

Thus these are the approaches for the treatment of the genetic diseases using either the stem cell therapy or the gene therapy methods.

Ethical issue:

Though gene therapy could be extreme beneficial to and for the development of the human race it is not encouraged by the government. This is keeping many ethical issues in mind like many people can exploit the genetic engineering techniques and aspects of the gene therapy for their personal benefits.

It might lead to the exploitation of the natural resources to a great extent. Hence keeping all this in mind, these techniques despite being beneficial are not much into the use.

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