Genetic Medicine & Medical Tools Quiz
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Questions and Answers

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

  • Mitochondrial Diseases
  • Polygenic Diseases (correct)
  • Monogenic Diseases
  • Rare Diseases

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

  • Penetrance (correct)
  • Susceptibility
  • Predisposition
  • Genotype

    • Which type of disorders are influenced by both genetic variants and environmental factors like heart disease and arthritis?

  • Polygenic Disorders (correct)
  • Mitochondrial Disorders
  • Aneuploidies
  • Monogenic Disorders

    • What do polygenic (risk) scores aim to quantify?

    <p>Cumulative Effects of Multiple Genes</p> Signup and view all the answers

    Which type of diseases are characterized by clear inheritance patterns and caused by a single gene?

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

    What is the main difference between polygenic conditions and monogenic diseases?

    <p>Genetic Variants Involved</p> Signup and view all the answers

    What was the purpose of the test trialled at the Manchester University NHS Foundation Trust regarding breast cancer risk?

    <p>Looking at 18 variants to predict breast cancer risk</p> Signup and view all the answers

    What does aneuploidy refer to?

    <p>An abnormal number of chromosomes</p> Signup and view all the answers

    How can aneuploidy be identified?

    <p>Using karyotyping, micro-array CGH, or sequencing</p> Signup and view all the answers

    What percentage of patients with early loss of vision had a genetic diagnosis identified through research in the NHS?

    <p>Close to 60%</p> Signup and view all the answers

    In the UK, how many people are estimated to be affected by a rare disease at some point in their life?

    <p>3.5 million</p> Signup and view all the answers

    What is the common genetic cause of most rare diseases according to the text?

    <p>Genetic factors</p> Signup and view all the answers

    What is the purpose of Genomics England's NHS-embedded Generation Study?

    <p>To sequence the whole genome of newborns to look for specific rare genetic conditions</p> Signup and view all the answers

    How does screening differ from diagnostic testing?

    <p>Screening is non-invasive and identifies potential conditions, whereas diagnostic testing confirms the presence of a condition.</p> Signup and view all the answers

    Which set of syndromes are examples of trisomies according to the text?

    <p>Down syndrome, Edward’s syndrome, Patau’s syndrome</p> Signup and view all the answers

    What was the key outcome of the study partnering with 57 NHS hospitals regarding rare diseases?

    <p>Discovery of previously unknown genetic differences attributed to rare diseases</p> Signup and view all the answers

    What is the diagnostic rate provided by RP-WES for fetuses with unexpected skeletal anomalies?

    <p>80%</p> Signup and view all the answers

    Where are mitochondria crucial due to their role in cellular metabolism through oxidative phosphorylation?

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

    Which type of DNA has a higher rate of spontaneous mutation than nuclear DNA?

    <p>Mitochondrial DNA</p> Signup and view all the answers

    How is mitochondrial DNA inherited primarily?

    <p>By the mother only</p> Signup and view all the answers

    What phenomenon arises due to mitochondrial DNA mutations leading to a mixture of mutant and wild-type DNA within cells?

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

    What is the quantity of mtDNA contributed by sperm compared to the mother?

    <p>~1/10,000</p> Signup and view all the answers

    Where is the root of the human mtDNA tree located according to evolutionary studies?

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

    What can a karyotype be used to visualize in an organism?

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

    What does a genetic family history refer to?

    <p>Information describing family members' relationships and medical conditions.</p> Signup and view all the answers

    What can a karyotype help identify concerning a genome?

    <p>Chromosome number changes and large-scale genomic alterations</p> Signup and view all the answers

    What is the purpose of gene therapy?

    <p>To correct the effects of disease-causing mutations</p> Signup and view all the answers

    In X-linked recessive inheritance, what is the probability of sons having the disorder if the mother is a carrier?

    <p>50%</p> Signup and view all the answers

    What is the role of mitochondrial DNA inheritance?

    <p>Inherited only by females</p> Signup and view all the answers

    What do microarray gene chips contain?

    <p>Known DNA sequences</p> Signup and view all the answers

    What do red spots on a microarray slide indicate during array-CGH analysis?

    <p>Deletion in patient DNA</p> Signup and view all the answers

    How does hybridization occur in microarray-based comparative genomic hybridization?

    <p>By attachment of synthetic DNA probes to DNA based on complementary base pairing</p> Signup and view all the answers

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

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

    In microarray-based comparative genomic hybridization, what does green fluorescence at a probe location signify?

    <p>More patient DNA than reference DNA indicating a duplication</p> Signup and view all the answers

    Which type of inheritance is characterized by sons having a 50% chance of being carriers if the mother is affected?

    <p>X-linked recessive inheritance</p> Signup and view all the answers

    What is the primary purpose of microarray-based comparative genomic hybridization?

    <p>Analyze small deletions and duplications in genomes</p> Signup and view all the answers

    What is the purpose of non-invasive prenatal testing (NIPT) using cell-free fetal DNA?

    <p>To detect trisomy conditions based on fetal DNA fragments in the maternal blood.</p> Signup and view all the answers

    What is a characteristic of Non-Invasive Prenatal Diagnosis (NIPD)?

    <p>It is used to assess the number of chromosomes in the fetus.</p> Signup and view all the answers

    What is a distinctive feature of Rapid Prenatal Whole Exome Sequencing (RP-WES)?

    <p>It uses a limited number of specific fetal anomalies for testing.</p> Signup and view all the answers

    Why is early diagnosis crucial for children with Congenital Adrenal Hyperplasia (CAH)?

    <p>To initiate replacement therapy for cortisol and aldosterone.</p> Signup and view all the answers

    What distinguishes Pre-Implantation Genomic Diagnosis (PIGD) from Non-Invasive Prenatal Diagnosis (NIPD)?

    <p>PIGD tests early embryos in vitro, whereas NIPD involves a blood sample from the mother.</p> Signup and view all the answers

    Which statement best describes the purpose of Invasive Diagnostic Testing during pregnancy?

    <p>To look for particular chromosomal or genomic variants during pregnancy.</p> Signup and view all the answers

    Why is Non-Invasive Prenatal Diagnosis (NIPD) considered ideal for certain genetic conditions?

    <p>It provides definitive diagnosis without needing follow-up invasive tests.</p> Signup and view all the answers

    What distinguishes Genomic Non-Invasive Prenatal Testing (NIPT) from non-genomic technologies like pregnancy ultrasound?

    <p>NIPT specifically detects chromosomal conditions through cell-free fetal DNA fragments.</p> Signup and view all the answers

    What is a key benefit of Rapid Fetal Whole Exome Sequencing (RP-WES) in prenatal diagnosis?

    <p>It offers a deeper analysis than traditional prenatal testing methods.</p> Signup and view all the answers

    Why might follow-up invasive testing be necessary after Non-Invasive Prenatal Diagnosis (NIPD) results?

    <p>To obtain definitive results for chromosomal conditions like trisomy syndromes.</p> Signup and view all the answers

    What is the potential impact of AI in healthcare?

    <p>Transforming from reactive medicine to preventative care</p> Signup and view all the answers

    Why should healthcare professionals consider ethical implications of AI?

    <p>To address potential biases in AI algorithms</p> Signup and view all the answers

    What is the significance of understanding polygenic and multifactorial diseases?

    <p>They involve multiple genes and environmental factors</p> Signup and view all the answers

    Why is prenatal genomics important?

    <p>To screen for genetic conditions before birth</p> Signup and view all the answers

    What does Exome Sequencing target within the genome?

    <p>Only the exons</p> Signup and view all the answers

    What does AI in diagnostics and therapeutics aim to achieve?

    <p>Improve accuracy and efficiency in healthcare</p> Signup and view all the answers

    Why is understanding genetic pedigree important in diagnostics?

    <p>To track inheritance patterns and genetic relationships</p> Signup and view all the answers

    What is the role of array-CGH technique in diagnostics?

    <p>Detecting chromosomal abnormalities</p> Signup and view all the answers

    What is the importance of CRISPR-Cas9 technology in therapeutics?

    <p>It can repair specific DNA sequences</p> Signup and view all the answers

    How does AI contribute to a digital future in healthcare according to the NHS strategy?

    <p>By enhancing diagnostics and treatment efficiency</p> Signup and view all the answers

    What is the main difference between somatic gene therapy and germline gene therapy?

    <p>Somatic gene therapy is not passed onto the patient's children, while germline gene therapy is.</p> Signup and view all the answers

    Why is CRISPR-Cas9 considered a versatile tool?

    <p>Because it can edit DNA in any organism, including humans.</p> Signup and view all the answers

    What is the role of gRNA in CRISPR-Cas9 technology?

    <p>To direct the Cas9 enzyme to a specific DNA sequence.</p> Signup and view all the answers

    What is the main reason why gene editing in the germline is currently debatable?

    <p>It involves ethical implications.</p> Signup and view all the answers

    What was the new treatment approved for use in 2020 for Leber's congenital amaurosis?

    <p>CRISPR-mediated therapy</p> Signup and view all the answers

    What is the purpose of reactivating the body's ability to make fetal hemoglobin in sickle cell and beta-thalassemia treatment?

    <p>To help the body produce a different form of hemoglobin.</p> Signup and view all the answers

    Why is AI in medicine not about creating autonomous clinicians?

    <p>Because it focuses on improving human skills in healthcare.</p> Signup and view all the answers

    Study Notes

    Prenatal Genomics

    • Antenatal screening is offered to pregnant women as part of routine standard care during pregnancy
    • Methods of antenatal screening:
      • Non-genomic technologies (e.g. pregnancy ultrasound)
      • Genomic non-invasive prenatal testing (NIPT) using cell-free fetal DNA (cffDNA) to detect conditions caused by an atypical number of chromosomes
    • Prenatal genomics: diagnostic testing
      • Invasive diagnostic testing (e.g. chorionic villus sampling (CVS), amniocentesis) to detect chromosomal or genomic variants
      • Pre-implantation genetic diagnosis (PGD) to test early embryos in vitro
      • Non-invasive prenatal diagnosis (NIPD) using maternal blood to detect fetal DNA

    Congenital Adrenal Hyperplasia (CAH)

    • Autosomal recessive inherited condition affecting the adrenal gland
    • Symptoms include increased production of male hormones, leading to atypical genital development in females
    • Early diagnosis is crucial, and prenatal diagnosis can inform treatment decisions

    Rapid Fetal Whole Exome Sequencing (RP-WES)

    • Analyzes fetal DNA to identify genetic variants associated with development during pregnancy
    • Improves parental counseling and pregnancy management

    Genetics of Polygenic and Multifactorial Disorders

    • Access to polygenic risk scores can target higher-risk individuals for screening opportunities (e.g., mammograms)
    • Variations in multiple genes can contribute to disease risk (e.g., breast cancer)

    Aneuploidies

    • Presence of an abnormal number of chromosomes in a cell or person's DNA
    • Examples: Trisomy 21 (Down syndrome), Trisomy 18 (Edward's syndrome), Trisomy 13 (Patau syndrome)

    Genomics of Rare Disorders

    • Rare diseases are rare individually but collectively affect 3.5 million people in the UK
    • Many rare diseases have a genetic cause
    • Whole-genome sequencing has increased diagnostic possibilities

    Mitochondrial DNA

    • Mitochondria have multiple copies of circular mitochondrial DNA (mtDNA)
    • Mitochondrial DNA has a higher rate of spontaneous mutation than nuclear DNA
    • Heteroplasmy: mixture of mutant and wild-type mtDNA within each cell and among tissues

    Gene Therapy

    • Transfer of a section of DNA to cells to treat genetic disorders
    • Somatic gene therapy: non-germline cells, effects not passed to offspring
    • Germline gene therapy: germline cells, effects passed to offspring

    CRISPR-Cas9

    • Part of bacterial defense against viruses and pathogens
    • Adapted for use in genetic editing in any organism, including humans
    • Applications: treating genetic diseases, including cancer and hepatitis B

    Artificial Intelligence in Diagnostics and Therapeutics

    • AI enables understanding of complex genomics data, precision medicine, and preventative care

    • AI requires ethical consideration and healthcare professionals should be aware of policies and standards### Disease Types and Inheritance

    • Polygenic diseases are caused by several sets of alleles

    • Multifactorial diseases are caused by multiple genetic variants and environmental factors

    • Common diseases affect a large portion of the population, while rare diseases affect less than 1 in 2000 people

    • Monogenic diseases are caused by a single gene, while mitochondrial diseases are caused by mutations in the mitochondrial DNA (mtDNA)

    • Aneuploidies are diseases caused by differences in the number of chromosomes

    Polygenic and Multifactorial Disorders

    • Polygenic conditions or traits are caused by a combination of multiple genetic variants (loci) and do not have clear inheritance patterns
    • Multifactorial inheritance refers to polygenic conditions or traits influenced by environmental factors
    • Examples of multifactorial diseases include heart disease, cancer, diabetes, and arthritis
    • Polygenic score or predisposition is the likelihood of a person developing a disease or trait based on their genetic profile

    Family History and Genetic Pedigree

    • X-linked recessive inheritance is a pattern of inheritance where a single gene variant on the X chromosome causes a disease
    • Queen Victoria was a carrier of the recessive allele for haemophilia, and her sons had a 50% chance of having the disorder, while her daughters had a 50% chance of being carriers
    • Mitochondrial DNA is inherited solely from the mother
    • Microarray-based comparative genomic hybridization (array-CGH) is a technique that detects small deletions (microdeletions) and duplications (microduplications) in the genome

    Microarray-Based Comparative Genomic Hybridization (array-CGH)

    • Array-CGH involves labelling patient and reference DNA with different coloured fluorescent dyes and hybridizing them to an array of DNA probes
    • The probes are spotted on the array slide in a non-even distribution, providing "backbone" coverage of the genome
    • The array slide is washed and scanned, and the fluorescence emitted at each probe location is measured
    • Computer software analyzes the data, and the results are presented as a ratio of patient to reference DNA signals
    • Yellow indicates equal patient and reference DNA present, red indicates a deletion, and green indicates a duplication

    Gene Therapy

    • Gene therapy involves introducing DNA into a patient to treat a genetic disease
    • The new DNA usually contains a functioning gene to correct the effects of a disease-causing mutation or inhibits the expression or blocks the activity of a defective gene

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    Description

    Test your knowledge on genetic medicine and medical tools with this quiz covering disease types, inheritance patterns, polygenic diseases, rare diseases, monogenic diseases, mitochondrial diseases, and aneuploidies.

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