Gene Therapy, Cell Replacement & Tissue Engineering

What is the main aim of gene therapy?

To treat or cure genetic abnormalities by replacing faulty genes with healthy ones.

What significant resource revealed the location of around 4000 potentially faulty genes?

The Human Genome Project.

What types of disorders is gene therapy currently focusing on?

Single-gene disorders such as cystic fibrosis, Huntington’s disease, muscular dystrophy, and sickle-cell anaemia.

How can gene therapy potentially correct genetic disorders?

By replacing a faulty gene with a healthy one.

Which genetic disorder is the most common life-threatening condition among Australians of European descent?

Cystic Fibrosis (CF).

What characterizes Cystic Fibrosis?

Thick, sticky mucus secreted by mucous glands.

What organs does Cystic Fibrosis primarily affect?

Lungs and pancreas, and sometimes liver and reproductive organs.

What is a major consequence of mucus in the lungs for Cystic Fibrosis patients?

It can clog air passages and trap bacteria, making them more susceptible to infections.

What is the genetic inheritance pattern of Cystic Fibrosis?

It results from inheriting a recessive allele for the condition from each parent.

What was a major milestone in the treatment of Cystic Fibrosis?

The identification of the Cystic Fibrosis Transmembrane Regulator (CFTR) gene in 1989.

What year did scientists first correct faulty CFTR genes in cultured cells?

1991.

Why is Cystic Fibrosis a logical choice for gene therapy?

It is a single-gene disorder, affects an accessible organ (lungs), and progresses slowly.

What method was used in the 1993 experimental gene therapy for Cystic Fibrosis?

A modified common cold virus was used as a vector to carry normal genes to cells in the lungs.

What complicates the success of gene therapy in Cystic Fibrosis?

The amount of gene transfer was likely too small for any real therapeutic benefit.

Which genetic disorder is caused by a mutation on chromosome 4?

Huntington’s Disease.

What are common symptoms of Huntington’s Disease?

Unintentional flailing movements, difficulty with voluntary movements, and progressive dementia.

What recent success was noted in US research regarding Huntington’s Disease?

Positive research results on mice.

What is the primary characteristic of stem cells?

They are undifferentiated cells capable of repeated divisions and can differentiate into specialized cells.

Why are stem cells ideal for producing replacement tissues?

Because they can multiply indefinitely and differentiate into the required cell types.

What disorders are considered potential candidates for stem cell replacement therapy?

Any disorder involving loss of, or injury to, normal cells.

Which neurodegenerative diseases have generated interest in cell replacement therapy?

Parkinson’s and Alzheimer’s disease.

What ethical concerns arise from the use of embryonic stem cells?

The ethical issues related to their source and use.

What is the main goal of tissue engineering?

To restore healthy tissues or organs and eliminate the need for transplants.

What role do scaffolds play in tissue engineering?

They serve as templates for tissue growth and need to allow diffusion of nutrients.

What happens to a scaffold after implantation in tissue engineering?

It begins to degrade at the same rate that tissue forms.

What are some types of tissues successfully developed through scaffolding?

Bone, skin, cartilage, and adipose tissues.

What is a limitation of using donor stem cells for treatment?

Donor stem cells contain different genes, which makes them unsuitable for treating genetic disorders.

What is one solution to the challenge of using diseased cells in stem cell therapy?

The use of stem cells allows for the culture of normal cells needed for treatment.

What is the significance of the year 1993 in the context of gene therapy?

It's when the first experimental gene therapy CF patient underwent treatment.

Why is it beneficial to begin gene therapy before significant lung damage occurs in Cystic Fibrosis patients?

To potentially prevent or reduce long-term complications.

What was the outcome of early gene therapy trials for Cystic Fibrosis regarding safety?

The trials primarily focused on the safety of the treatment.

What did researchers use in experiments for Huntington’s Disease related to gene therapy?

A modified virus to deliver a corrective gene into brain cells.

Which two methods have been explored for gene transfer in Cystic Fibrosis research?

Using viruses as vectors and exploring alternative methods of gene transfer.

What role do stem cells have in neurodegenerative disorders?

They offer potential for replacement therapies to restore function.