Genetic Therapy Review

A set of flashcards covering key concepts and learning outcomes from the genetic therapy lecture notes.

What are numerical aberrations in genetics?

Alterations in chromosome numbers that may lead to disorders.

What are structural aberrations?

Alterations in chromosome structures that can lead to disorders.

What procedures are included in prenatal screening?

Ultrasound, biochemical tests, chromosomal analysis, and DNA analysis.

What is non-invasive prenatal testing?

A method that reduces the need for invasive prenatal procedures.

What does invasive prenatal sampling deliver?

Larger amounts of fetal DNA suitable for diagnostic tests.

What are the learning outcomes of the session on genetic therapy?

Strategies for treatment, genetic approaches to treatment, gene delivery problems, and virus-based approaches.

What is the focus of genetic treatment?

Utilizes innovative genetic technologies for disease treatment.

What strategies could genetic treatments implement?

Prevent disease, treat harmful effects, or compensate for pathologic deficiencies.

What is the significance of metabolic disease models?

They are essential for developing effective biological drugs.

What disorder is characterized by the deposition of glucocerebroside?

Gaucher disease.

What is the role of β-glucosylceramidase in Gaucher disease treatment?

It is a target for substrate reduction therapy.

What therapeutic approach is used for cystic fibrosis?

Small molecule therapy targeting the CFTR gene.

What mutation class is the p.G551D mutation?

Class III mutation where the protein is synthesized but inactive.

What does the term pharmacogenomics refer to?

The study of how genes affect a person's response to drugs.

What are germline cell gene therapy and its status?

A direct genetic modification strategy banned in most countries.

What are the two main types of gene therapy?

Germline cell gene therapy and somatic gene therapy.

What are the advantages of somatic gene therapy?

Modifying target cells for gene augmentation, silencing, and repair.

What is the major challenge in gene therapy?

Gene delivery into the target cells.

What are IN VIVO therapy and EX VIVO therapy?

In vivo is gene delivery to the organism; ex vivo is delivery using cultured cells.

How do non-viral vectors work in gene therapy?

Liposomes fuse with target cell membranes to release DNA.

Why are viral vectors important in gene therapy?

They efficiently deliver genetic material into cells.

What is the capacity of Gamma-retrovirus for gene delivery?

8kb, integrating, suitable for dividing cells.

What is an example of a disease treated with gene therapy?

X-linked severe combined immunodeficiency disease (SCID).

What are the 3Rs principles in animal testing?

Reduce, Refine, and Replace animal experiments.

What phases are included in clinical trials for novel drugs?

Preclinical, Phase I, Phase II, Phase III, Phase IV.

What percentage of gene therapy clinical trials are for cancer diseases?

68.2%.

What does AAV stand for in virus types used for gene delivery?

Adeno-associated virus.

What is the function of the therapeutic antibody Humira?

It treats Crohn’s disease and rheumatoid arthritis.

What is the definition of gene therapy?

Strategies for direct genetic modification of cells.

What are biological therapies for metabolic disorders based on?

Knowledge of molecular pathophysiology.

What is the purpose of patient-derived models in drug testing?

To assess systemic effects before clinical tests.

What type of trials may be reduced for novel treatments for rare diseases?

Clinical trials.

What is gene silencing in the context of gene therapy?

Downregulating or inhibiting the expression of a specific gene.

What type of mutations are crucial for cystic fibrosis therapies?

Classes of mutations in the CFTR gene.

How does Ivacaftor help cystic fibrosis patients?

It opens the CFTR protein channel for Class III mutations.

What diagnostic procedures can help identify genetic disorders in prenatal screenings?

Ultrasound, biochemical tests, chromosomal analysis, and DNA analysis.

What is a significant aspect of clinical trials for gene therapy?

They can be expensive and time-consuming.

What is recombinant retrovirus used for in gene therapy?

To replace viral transcription units with foreign target genes.

What do therapeutic antibodies target in immune diseases?

Specific proteins associated with immune response.