Podcast
Questions and Answers
Which of the following is NOT an approach of gene therapy?
Which of the following is NOT an approach of gene therapy?
Gene therapy can be used to repair abnormal genes.
Gene therapy can be used to repair abnormal genes.
True
Name one complex disease that has had its gene expression patterns studied.
Name one complex disease that has had its gene expression patterns studied.
Cancer
Gene therapy involves correcting __________ defects.
Gene therapy involves correcting __________ defects.
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Match the following gene therapy techniques with their descriptions:
Match the following gene therapy techniques with their descriptions:
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Which of the following diseases can be tested using genetic tests?
Which of the following diseases can be tested using genetic tests?
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Genetic testing results only apply to the individual being tested, not their family members.
Genetic testing results only apply to the individual being tested, not their family members.
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What type of information does genomic counseling integrate?
What type of information does genomic counseling integrate?
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___ can initiate an immunological response by injecting genetically engineered DNA into cells.
___ can initiate an immunological response by injecting genetically engineered DNA into cells.
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Match the genetic disorders with their corresponding genes:
Match the genetic disorders with their corresponding genes:
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Which of the following is not a characteristic of genetic testing?
Which of the following is not a characteristic of genetic testing?
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Most genetic disorders are common and easily tested for.
Most genetic disorders are common and easily tested for.
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Name one of the genetic tests that detect viral RNA.
Name one of the genetic tests that detect viral RNA.
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What is the primary purpose of whole exome sequencing (WES)?
What is the primary purpose of whole exome sequencing (WES)?
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Whole genome sequencing (WGS) detects fewer single nucleotide variants than a SNP array.
Whole genome sequencing (WGS) detects fewer single nucleotide variants than a SNP array.
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What is pharmacogenomics?
What is pharmacogenomics?
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The ___ detected by whole genome sequencing can contribute to the study of complex diseases.
The ___ detected by whole genome sequencing can contribute to the study of complex diseases.
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Match the following genomic methods with their descriptions:
Match the following genomic methods with their descriptions:
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What is a challenge associated with interpreting variants in genomic studies?
What is a challenge associated with interpreting variants in genomic studies?
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The 1000 Genomes Project sequenced each sample to a coverage of 8x.
The 1000 Genomes Project sequenced each sample to a coverage of 8x.
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What is the overall aim of medical genomics?
What is the overall aim of medical genomics?
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Study Notes
Gene Therapy
- Gene therapy is the process of correcting genetic defects
- There are several approaches:
- A normal gene may be inserted into a nonspecific location within the genome to replace a non-functional gene
- An abnormal gene could be swapped for a normal gene through homologous recombination
- The abnormal gene could be repaired through selective reverse mutation, which returns the gene to its normal function
- The abnormal gene could be removed or replaced through gene editing
- The regulation of a particular gene could be altered
Disease Diagnosis
- Gene expression patterns for complex diseases such as cancer, diabetes, and neurological diseases (Parkinson's, Alzheimer's) have been studied, for example Burkitt's lymphoma
- Cancer target delivery and development (CTD2) focus on cancer therapeutics and bioinformatics approaches of sequence data
- Therapeutic ally Applicable research to Generate Effective Treatments (TARGET) focuses on the identification of therapeutic targets in childhood cancers, such as ALL, AML
DNA Vaccines
- Injection of genetically engineered DNA into cells so that they produce an antigen thereby initiating an immunological response directly
Genetic Tests
- A medical test that identifies changes in chromosomes, genes, or proteins.
- Genetic testing may be used for medical management and for personal decision-making.
- Genetic test results apply to the patient and also to other family members.
- Most genetic disorders are rare, so testing is done by specialized laboratories.
- For genetic testing to yield meaningful results:
- Multiple test methodologies may be required
- Other family members may need to be tested
- A genetics consultation may be appropriate
Examples of Genetic Tests
- Currently, there are several genetic tests available, all of which are not FDA approved
- Gene Target Disease
- CFTR Cystic Fibrosis
- FMR-1 Fragile X syndrome
- Viral RNA HPV
- Bcr-abl, Leukemia's
- BRAC1 and 2 gene Breast Cancer
- K-Ras and p53 Colon cancer
- 16srRNA N.gonorrhea
- SARS-CoV-2 gene Covid 19
Genetic Counseling
- Helps people understand and adapt to the medical, psychological, and familial implications of genetic contributions to disease.
- Integrates the interpretation of family and medical histories to assess the chance of disease occurrence or recurrence.
Single Nucleotide Polymorphisms (SNPs) and Haplotypes
- SNPs are variations in a single nucleotide that occur at a specific location in the genome
- Haplotypes are groups of SNPs that are inherited together
- SNPs and haplotypes can be used to identify individuals with genetic predispositions to diseases
Whole Exome Sequencing (WES)
- Useful for identifying variants that cause monogenic disorders.
- Mendelian diseases are typically caused primarily by mutations affecting the coding region of a gene.
- Focus is on a small subset of the genome (∼60 megabases), enriched for functionally relevant loci.
Whole Genome Sequencing (WGS)
- Detects 3-4 million single nucleotide variants (SNVs) per individual, substantially more than in a SNP array
- Trio-based WES or WGS often used to study complex diseases
- Interpretation of variants relevant to the phenotype is challenging
Medical Genomics
- Molecular Medicine
- Improve diagnosis of disease
- Detect genetic predispositions to disease
- Create drugs based on molecular information
- Design "custom drugs" (pharmacogenomics) based on individual genetic profiles and/or Use gene therapy approaches
Genetic Variation
- Multi-omics in Health and Disease
- 1000 Genomes Project (2008- 2015)
- Sequenced each sample to 4x genome coverage to allow the detection of most variants with frequencies as low as 1%.
- Data from 2,504 samples was combined to allow genotyping of each sample at all the possible variant sites discovered
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Description
Explore the fascinating world of gene therapy, where genetic defects are corrected through various innovative approaches. Learn about the importance of gene expression patterns in diagnosing complex diseases such as cancer and diabetes, and how this knowledge impacts therapeutic strategies.