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?

Monogenic Diseases Signup and view all the answers

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

Penetrance Signup and view all the answers

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

Polygenic Diseases Signup and view all the answers

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

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

How is mitochondrial DNA inherited?

Only through the mother to both sons and daughters Signup and view all the answers

What is the primary function of CRISPR-Cas9?

Editing specific genes Signup and view all the answers

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

Leber's congenital amaurosis (LCA) Signup and view all the answers

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

Late 2000s Signup and view all the answers

Which method can be used to deliver gene therapy vectors?

gene guns 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?

~20% Signup and view all the answers

What is the potential downside of CRISPR-Cas9?

Off-target effects Signup and view all the answers

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

~1990s Signup and view all the answers

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

High genetic risk does not guarantee development of the condition Signup and view all the answers

How do mutations in BRCA genes impact breast cancer risk?

They significantly increase breast cancer risk Signup and view all the answers

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

It substantially increases the risk of breast cancer Signup and view all the answers

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

They are characterized by an abnormal number of chromosomes Signup and view all the answers

What is the purpose of antenatal screening?

To identify potential risks using non-invasive methods Signup and view all the answers

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

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

What is the purpose of whole-genome testing?

To identify rare diseases without invasive procedures Signup and view all the answers

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

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

What is characteristic of diagnostic odyssey for rare diseases?

Patients undergo numerous tests without reaching a diagnosis Signup and view all the answers

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

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

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

It provides high diagnostic rates and improves parental counseling Signup and view all the answers

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

Cystic fibrosis Signup and view all the answers

What is the significance of mitochondrial DNA in genetic studies?

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

What is the main purpose of karyotype analysis?

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

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

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

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

Increased production of male hormones and typical genital development Signup and view all the answers

Which statement about mitochondrial DNA (mtDNA) is true?

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

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

Preventing long-term health complications Signup and view all the answers

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

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

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

Reactivating the body's ability to produce healthy proteins Signup and view all the answers

Why is editing the genome in germline cells currently debatable?

Due to ethical implications and it is illegal Signup and view all the answers

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

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

How can AI contribute to healthcare?

Improving understanding of complex genomic data Signup and view all the answers

Why are ethical considerations necessary in implementing AI in healthcare?

To ensure patient privacy and data security Signup and view all the answers

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

Various diseases, techniques for screening and diagnosis, mitochondrial DNA, family history, array-CGH, gene therapy, and genome editing using CRISPR-Cas9 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?

Exome sequencing Signup and view all the answers

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

Treating genetic conditions like cancer and hepatitis B Signup and view all the answers

What does AI aim to achieve in healthcare?

Shift healthcare from reactive to preventative models Signup and view all the answers

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

Ethical implications and legal restrictions 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.