Podcast
Questions and Answers
Which type of diseases are caused by several sets of alleles?
Which type of diseases are caused by several sets of alleles?
- Polygenic Diseases (correct)
- Aneuploidies
- Mitochondrial Diseases
- Monogenic Diseases
What is the influence of environmental factors in multifactorial inheritance?
What is the influence of environmental factors in multifactorial inheritance?
- Minimal influence
- Moderate influence
- Significant influence (correct)
- No influence
What does a polygenic score aim to quantify?
What does a polygenic score aim to quantify?
- The effects of environmental factors on genetic disorders
- The number of genes in an individual
- The cumulative effects of multiple genes on susceptibility (correct)
- The likelihood of a single gene variant causing a specific phenotype
Which type of diseases are caused by a single gene?
Which type of diseases are caused by a single gene?
What is the likelihood of a single gene variant to cause a specific phenotype?
What is the likelihood of a single gene variant to cause a specific phenotype?
Which type of diseases are caused by genetic variants and environmental factors?
Which type of diseases are caused by genetic variants and environmental factors?
Which technique is used to detect small deletions and duplications in DNA?
Which technique is used to detect small deletions and duplications in DNA?
How is mitochondrial DNA inherited?
How is mitochondrial DNA inherited?
What is the primary function of CRISPR-Cas9?
What is the primary function of CRISPR-Cas9?
What was the first successful use of gene therapy reported for?
What was the first successful use of gene therapy reported for?
When was CRISPR-Cas9 adapted for use in gene editing?
When was CRISPR-Cas9 adapted for use in gene editing?
Which method can be used to deliver gene therapy vectors?
Which method can be used to deliver gene therapy vectors?
What is the detection rate of chromosomal abnormalities in children with mental retardation or developmental delay using array-CGH?
What is the detection rate of chromosomal abnormalities in children with mental retardation or developmental delay using array-CGH?
What is the potential downside of CRISPR-Cas9?
What is the potential downside of CRISPR-Cas9?
In what year was the development of microarray based comparative genomic hybridisation (array-CGH) first reported?
In what year was the development of microarray based comparative genomic hybridisation (array-CGH) first reported?
Which of the following is true about polygenic and multifactorial disorders?
Which of the following is true about polygenic and multifactorial disorders?
How do mutations in BRCA genes impact breast cancer risk?
How do mutations in BRCA genes impact breast cancer risk?
What did researchers find about the combination of 18 SNPs in relation to breast cancer risk?
What did researchers find about the combination of 18 SNPs in relation to breast cancer risk?
What is the primary characteristic of conditions caused by an abnormal number of chromosomes?
What is the primary characteristic of conditions caused by an abnormal number of chromosomes?
What is the purpose of antenatal screening?
What is the purpose of antenatal screening?
What is the main difference between screening and diagnostic testing in prenatal genomics?
What is the main difference between screening and diagnostic testing in prenatal genomics?
What is the purpose of whole-genome testing?
What is the purpose of whole-genome testing?
What is the primary goal of pre-implantation genomic diagnosis (PIGD)?
What is the primary goal of pre-implantation genomic diagnosis (PIGD)?
What is characteristic of diagnostic odyssey for rare diseases?
What is characteristic of diagnostic odyssey for rare diseases?
What is the purpose of Non-invasive prenatal diagnosis (NIPD)?
What is the purpose of Non-invasive prenatal diagnosis (NIPD)?
What is the main advantage of Rapid prenatal whole exome sequencing (RP-WES)?
What is the main advantage of Rapid prenatal whole exome sequencing (RP-WES)?
Which condition can be diagnosed using Non-invasive prenatal diagnosis (NIPD)?
Which condition can be diagnosed using Non-invasive prenatal diagnosis (NIPD)?
What is the significance of mitochondrial DNA in genetic studies?
What is the significance of mitochondrial DNA in genetic studies?
What is the main purpose of karyotype analysis?
What is the main purpose of karyotype analysis?
Which technique involves analyzing fetal DNA differences in parental blood samples?
Which technique involves analyzing fetal DNA differences in parental blood samples?
What are the symptoms of Congenital adrenal hyperplasia (CAH)?
What are the symptoms of Congenital adrenal hyperplasia (CAH)?
Which statement about mitochondrial DNA (mtDNA) is true?
Which statement about mitochondrial DNA (mtDNA) is true?
What is the primary benefit of diagnosing single gene and X-linked conditions using NIPD?
What is the primary benefit of diagnosing single gene and X-linked conditions using NIPD?
In which two locations did Emmanuelle Charpentier and Jennifer A. Doudna develop Genetic scissors (CRISPR-Cas9)?
In which two locations did Emmanuelle Charpentier and Jennifer A. Doudna develop Genetic scissors (CRISPR-Cas9)?
What is the potential application of CRISPR-Cas9 in treating genetic conditions like cancer and hepatitis B?
What is the potential application of CRISPR-Cas9 in treating genetic conditions like cancer and hepatitis B?
Why is editing the genome in germline cells currently debatable?
Why is editing the genome in germline cells currently debatable?
What is the primary purpose of Artificial Intelligence (AI) in medicine?
What is the primary purpose of Artificial Intelligence (AI) in medicine?
How can AI contribute to healthcare?
How can AI contribute to healthcare?
Why are ethical considerations necessary in implementing AI in healthcare?
Why are ethical considerations necessary in implementing AI in healthcare?
What should students learn about in the context of genomics education?
What should students learn about in the context of genomics education?
What is the cost-effective and efficient method to diagnose rare genetic disorders by focusing on all the exons within the genome?
What is the cost-effective and efficient method to diagnose rare genetic disorders by focusing on all the exons within the genome?
What are the applications of CRISPR-Cas9 mentioned in the text?
What are the applications of CRISPR-Cas9 mentioned in the text?
What does AI aim to achieve in healthcare?
What does AI aim to achieve in healthcare?
What is a primary concern regarding genome editing in germline cells?
What is a primary concern regarding genome editing in germline cells?
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Study Notes
- Emmanuelle Charpentier and Jennifer A. Doudna developed Genetic scissors (CRISPR-Cas9) as a method for genome editing at Max Planck Unit for the Science of Pathogens, Berlin, Germany, and University of California, Berkeley, USA.
- CRISPR-Cas9 has potential applications in treating genetic conditions like cancer and hepatitis B, through reactivating the body's ability to produce healthy proteins rather than directly replacing mutated genes.
- Gene editing in somatic cells is widely used, but editing the genome in germline cells is debatable due to ethical implications and is currently illegal.
- Artificial Intelligence (AI) in medicine is a collective term for making machines perform tasks requiring intelligence. It is not meant to replace human workforce, but to complement it by analyzing multi-omic data.
- AI can improve understanding of complex genomic data, bring the right treatment to patients, and shift healthcare from reactive to preventative models.
- Ethical considerations are necessary in implementing AI in healthcare.
- In the context of genomics education, students should learn about various diseases, techniques for screening and diagnosis, mitochondrial DNA, family history, array-CGH, gene therapy, and genome editing using CRISPR-Cas9.
- Various resources are available online for self-directed learning, including genomic education websites, textbooks, and Moodle.
- Exome sequencing is a cost-effective and efficient method to diagnose rare genetic disorders by focusing on all the exons within the genome.
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