Genetic Disorders and Gene Therapy

This set of flashcards covers key vocabulary and concepts related to genetic disorders, gene therapy, and genome editing, as discussed in the lecture.

PCR

A technique used to amplify small segments of DNA.

Amniocentesis

A procedure used to obtain amniotic fluid for prenatal genetic testing.

Chorionic Villi Sampling

A prenatal diagnostic procedure to obtain a sample of chorionic villi for genetic testing.

Karyotype

A display of the complete set of chromosomes in an individual.

Fluorescent immunohistochemistry

A technique that uses fluorescent markers to visualize specific proteins or DNA sequences.

Genetic Marker

A variation in the DNA sequence that can be used to identify traits or predispositions.

Restriction Enzymes

Proteins that cut DNA at specific sequences.

DNA Sequencing

The process of determining the exact order of nucleotides in a DNA molecule.

DNA Microarrays

Technology used to analyze gene expression or genetic variations across a genome.

Gene Therapy

A treatment that involves inserting genetic material into a person's cells to treat or prevent disease.

Ex vivo Gene Therapy

Gene therapy performed on cells outside the body.

In vivo Gene Therapy

Gene therapy administered directly inside the body.

Vectors

Vehicles used to deliver genetic material to cells.

Liposomes

Artificial vesicles that can enclose drugs or genes for delivery to cells.

Severe Combined Immunodeficiency Disease (SCID)

A genetic disorder caused by a lack of the ADA enzyme, leading to severe immune deficiency.

Adenosine Deaminase (ADA)

An enzyme important for the maturation of immune cells.

Cystic Fibrosis

A genetic disorder causing thick mucus buildup in the lungs due to a defective protein.

CRISPR

A genome editing technology that allows for direct modification of DNA.

Cas9

An enzyme used in CRISPR that cuts DNA at specific sites.

Guide RNA

A RNA molecule that directs Cas9 to the specific DNA sequence to be edited.

Progenitor Cells

Cells that have the potential to differentiate into more specialized cells.

Fetal Hemoglobin

A type of hemoglobin found in a developing fetus that differs from adult hemoglobin.

FDA

The U.S. Food and Drug Administration, the agency responsible for regulating food and drug products.

Casgevy

CRISPR-based treatment enabling the production of fetal hemoglobin.

Lyfgenia

A lab-derived form of hemoglobin targeting sickle cell disease.

Gene Expression

The process by which information from a gene is used to synthesize functional gene products.

Alleles

Different forms of a gene that can exist at a specific locus.

Chromosome

A structure composed of DNA and proteins that carries genetic information.

Genetic Counseling

A process of guiding individuals on genetic disorders and implications.

Hybridization

The process of combining different sequences of DNA or RNA.

Nucleotide

The basic building block of DNA and RNA.

Mutation

A change in the DNA sequence that can lead to genetic variation or disease.

Isolation of DNA

The process of extracting DNA from cells for analysis.

Clinical Trials

Research studies conducted to evaluate the safety and effectiveness of new treatments.

Sickle Cell Disease

A genetic blood disorder characterized by the presence of abnormal hemoglobin.

Transduction

The process of delivering genetic material into cells using a viral vector.

Biotechnology

The use of biological systems or organisms to develop or create products.

Stem Cells

Undifferentiated cells capable of giving rise to various cell types.

Genetic Disorder

A disease caused by an abnormality in an individual's DNA.

Infection Susceptibility

Increased likelihood of contracting infections due to a weakened immune system.