Genetic medicine 2-Dr P
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Questions and Answers

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?

  • Minimal influence
  • Moderate influence
  • Significant influence (correct)
  • No influence
  • 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?

    <p>Monogenic Diseases</p> Signup and view all the answers

    What is the likelihood of a single gene variant to cause a specific phenotype?

    <p>Penetrance</p> Signup and view all the answers

    Which type of diseases are caused by genetic variants and environmental factors?

    <p>Polygenic Diseases</p> Signup and view all the answers

    Which technique is used to detect small deletions and duplications in DNA?

    <p>Microarray based comparative genomic hybridisation (array-CGH)</p> Signup and view all the answers

    How is mitochondrial DNA inherited?

    <p>Only through the mother to both sons and daughters</p> Signup and view all the answers

    What is the primary function of CRISPR-Cas9?

    <p>Editing specific genes</p> Signup and view all the answers

    What was the first successful use of gene therapy reported for?

    <p>Leber's congenital amaurosis (LCA)</p> Signup and view all the answers

    When was CRISPR-Cas9 adapted for use in gene editing?

    <p>Late 2000s</p> Signup and view all the answers

    Which method can be used to deliver gene therapy vectors?

    <p>gene guns</p> Signup and view all the answers

    What is the detection rate of chromosomal abnormalities in children with mental retardation or developmental delay using array-CGH?

    <p>~20%</p> Signup and view all the answers

    What is the potential downside of CRISPR-Cas9?

    <p>Off-target effects</p> Signup and view all the answers

    In what year was the development of microarray based comparative genomic hybridisation (array-CGH) first reported?

    <p>~1990s</p> Signup and view all the answers

    Which of the following is true about polygenic and multifactorial disorders?

    <p>High genetic risk does not guarantee development of the condition</p> Signup and view all the answers

    How do mutations in BRCA genes impact breast cancer risk?

    <p>They significantly increase breast cancer risk</p> Signup and view all the answers

    What did researchers find about the combination of 18 SNPs in relation to breast cancer risk?

    <p>It substantially increases the risk of breast cancer</p> Signup and view all the answers

    What is the primary characteristic of conditions caused by an abnormal number of chromosomes?

    <p>They are characterized by an abnormal number of chromosomes</p> Signup and view all the answers

    What is the purpose of antenatal screening?

    <p>To identify potential risks using non-invasive methods</p> Signup and view all the answers

    What is the main difference between screening and diagnostic testing in prenatal genomics?

    <p>Screening aims to identify potential risks, while diagnostic testing confirms the presence of a condition</p> Signup and view all the answers

    What is the purpose of whole-genome testing?

    <p>To identify rare diseases without invasive procedures</p> Signup and view all the answers

    What is the primary goal of pre-implantation genomic diagnosis (PIGD)?

    <p>To avoid passing on inherited conditions by returning healthy embryos to the uterus</p> Signup and view all the answers

    What is characteristic of diagnostic odyssey for rare diseases?

    <p>Patients undergo numerous tests without reaching a diagnosis</p> Signup and view all the answers

    What is the purpose of Non-invasive prenatal diagnosis (NIPD)?

    <p>To determine fetal sex and prevent long-term health complications</p> Signup and view all the answers

    What is the main advantage of Rapid prenatal whole exome sequencing (RP-WES)?

    <p>It provides high diagnostic rates and improves parental counseling</p> Signup and view all the answers

    Which condition can be diagnosed using Non-invasive prenatal diagnosis (NIPD)?

    <p>Cystic fibrosis</p> Signup and view all the answers

    What is the significance of mitochondrial DNA in genetic studies?

    <p>It affects severity of disease due to its higher mutation rate and mixture of mutant and wild-type mtDNA</p> Signup and view all the answers

    What is the main purpose of karyotype analysis?

    <p>To visualize and pair chromosomes for analysis of large-scale genetic changes</p> Signup and view all the answers

    Which technique involves analyzing fetal DNA differences in parental blood samples?

    <p>Rapid prenatal whole exome sequencing (RP-WES)</p> Signup and view all the answers

    What are the symptoms of Congenital adrenal hyperplasia (CAH)?

    <p>Increased production of male hormones and typical genital development</p> Signup and view all the answers

    Which statement about mitochondrial DNA (mtDNA) is true?

    <p>It can lead to a mixture of mutant and wild-type mtDNA within cells and tissues, affecting severity of disease</p> Signup and view all the answers

    What is the primary benefit of diagnosing single gene and X-linked conditions using NIPD?

    <p>Preventing long-term health complications</p> Signup and view all the answers

    In which two locations did Emmanuelle Charpentier and Jennifer A. Doudna develop Genetic scissors (CRISPR-Cas9)?

    <p>Max Planck Unit for the Science of Pathogens, Berlin, Germany and University of California, Berkeley, USA</p> Signup and view all the answers

    What is the potential application of CRISPR-Cas9 in treating genetic conditions like cancer and hepatitis B?

    <p>Reactivating the body's ability to produce healthy proteins</p> Signup and view all the answers

    Why is editing the genome in germline cells currently debatable?

    <p>Due to ethical implications and it is illegal</p> Signup and view all the answers

    What is the primary purpose of Artificial Intelligence (AI) in medicine?

    <p>To complement human workforce by analyzing multi-omic data</p> Signup and view all the answers

    How can AI contribute to healthcare?

    <p>Improving understanding of complex genomic data</p> Signup and view all the answers

    Why are ethical considerations necessary in implementing AI in healthcare?

    <p>To ensure patient privacy and data security</p> Signup and view all the answers

    What should students learn about in the context of genomics education?

    <p>Various diseases, techniques for screening and diagnosis, mitochondrial DNA, family history, array-CGH, gene therapy, and genome editing using CRISPR-Cas9</p> Signup and view all the answers

    What is the cost-effective and efficient method to diagnose rare genetic disorders by focusing on all the exons within the genome?

    <p>Exome sequencing</p> Signup and view all the answers

    What are the applications of CRISPR-Cas9 mentioned in the text?

    <p>Treating genetic conditions like cancer and hepatitis B</p> Signup and view all the answers

    What does AI aim to achieve in healthcare?

    <p>Shift healthcare from reactive to preventative models</p> Signup and view all the answers

    What is a primary concern regarding genome editing in germline cells?

    <p>Ethical implications and legal restrictions</p> Signup and view all the answers

    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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    Description

    Test your knowledge about non-invasive prenatal diagnosis (NIPD) which involves analyzing fetal DNA from the mother's blood sample. This quiz covers topics like single gene and X-linked conditions, as well as the assessment of chromosome numbers in prenatal testing.

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