Genetic medicine 1-Dr P

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Questions and Answers

Which term describes the study of an organism’s genome and how this information is applied?

Pharmacogenomics

Proteomics

Genetics

Genomics (correct)

What is the primary focus of Pharmacogenetics?

The study of how traits or conditions are passed down in the genes from one generation to the next

The study of genes and how they are inherited

The study of genomic information generation and application

The study of variations in gene(s) when determining the cause of a health condition (correct)

What does Epigenetics primarily study?

Personalised medicine

The study of how traits or conditions are passed down in the genes from one generation to the next (correct)

The study of an organism’s genome and how this information is applied

Rare diseases

Which field typically focuses on variations in gene(s) when determining the cause of a health condition?

Genetics Signup and view all the answers

What is the main focus of Proteomics?

The study of proteins expressed by the genome Signup and view all the answers

Which term refers to the study of genes and their roles in inheritance (how traits or conditions are passed down in the genes from one generation to the next)?

Genetics Signup and view all the answers

Which of the following accurately describes the relationship between genotype and phenotype?

Genotype determines the appearance of a trait Signup and view all the answers

What is the term for alternative forms of a gene at the same locus, where two homologous chromosomes each carry one allele?

Alleles Signup and view all the answers

Which type of diseases are caused by single-gene mutations?

Monogenic diseases Signup and view all the answers

What type of diseases are caused by mutations in mitochondrial DNA?

Mitochondrial diseases Signup and view all the answers

What is the term for diseases that affect fewer than 1 in 2000 people?

Rare diseases Signup and view all the answers

What type of diseases can be caused by various factors, including multiple genetic variants and environmental factors?

Polygenic and multifactorial diseases Signup and view all the answers

What is the term for the type of inheritance pattern where both alleles need to be recessive for the trait to be expressed?

Autosomal recessive Signup and view all the answers

What are proteins composed of?

Amino acids Signup and view all the answers

What is the term for changes in DNA that can lead to alterations in protein structure, potentially contributing to diseases?

Genetic mutations Signup and view all the answers

What term describes chromatin made up of DNA and histones that packages the DNA into chromosomes?

Nucleosomes Signup and view all the answers

Which type of chromosomes consist of 23 pairs in humans?

Diploid chromosomes Signup and view all the answers

Which type of chromosomes are responsible for determining an individual's sex?

Sex chromosomes Signup and view all the answers

Which of the following best describes the role of epigenetics in cancer development?

It plays a crucial role in nearly all cancers Signup and view all the answers

How do epigenetic modifications, such as DNA methylation, contribute to cancer progression?

They help grade the current stage of a cancer and track its progression Signup and view all the answers

What is the significance of genomic imprinting in relation to gene expression?

It leads to the silencing of either the maternal or paternal copy of a gene Signup and view all the answers

How many human genes are known to be imprinted?

At least 80 Signup and view all the answers

What is the primary function of non-coding DNA in the genome?

It regulates gene expression Signup and view all the answers

What is the significance of non-coding DNA mutations in a clinical context?

They have been linked to tumors and other conditions Signup and view all the answers

Which field developed methods and software tools essential to the success of the Human Genome Project?

Bioinformatics Signup and view all the answers

What does the collective term 'omics' include?

Genetics, Transcriptomics, Proteomics Signup and view all the answers

What does functional genomics primarily focus on studying?

The regulation and interaction of genes and their impact on phenotypes and diseases Signup and view all the answers

What is a key characteristic of non-coding DNA within the human genome?

It makes up the majority of the human genome and does not code for proteins Signup and view all the answers

What is the primary objective of drugs targeting specific epigenetic modifications?

To treat cancer by targeting specific epigenetic modifications Signup and view all the answers

What is the purpose of bioinformatics in biological research?

To develop methods and software tools to understand biological data Signup and view all the answers

What technology was primarily used by the Human Genome Project to determine the order of bases in DNA?

Sanger DNA sequencing Signup and view all the answers

In what year did the Human Genome Project run from?

1990 to 2003 Signup and view all the answers

Where were the donors primarily from for the sequence generated by the Human Genome Project?

Buffalo, New York Signup and view all the answers

What is the percentage of the human genome accounted for by the initial human genome sequence completed in 2003?

Over 90% Signup and view all the answers

Which project aimed to identify genetic variants and create a human genome-wide haplotype map as a result of the Human Genome Project?

HapMap Project Signup and view all the answers

What technology has made it possible to quickly and affordably sequence an individual's entire genome, following the Human Genome Project?

Next-generation sequencing Signup and view all the answers

What did the Human Genome Project contribute to that enabled whole genome-wide association studies?

Identification of genetic variants and creation of a human genome-wide haplotype map Signup and view all the answers

What significant turning point did the Human Genome Project mark in genomics research?

Paving the way for advancements in understanding human genomic variation and disease association Signup and view all the answers

What does HGP stand for in relation to genomics research?

Human Genome Project Signup and view all the answers

What type of sequencing technology has been primarily used by the Human Genome Project?

Sanger DNA sequencing Signup and view all the answers

Which project aimed to create a human genome-wide haplotype map as a result of the Human Genome Project?

1000 Genomes Project Signup and view all the answers

What has made it possible to quickly and affordably sequence an individual's entire genome following advancements in genomics research?

Whole genome sequencing technology like next-generation sequencing Signup and view all the answers

What is the purpose of creating reference human genome sequences?

To help detect and study genomic variants Signup and view all the answers

Which type of variation can result in changes to an individual's appearance or cause rare conditions?

SNPs Signup and view all the answers

What type of mutation results in the substitution of one amino acid for another?

Missense mutations Signup and view all the answers

Which database can genetic variants be found in?

All of the above Signup and view all the answers

Which limitation is associated with GWAS?

Potential for false positives Signup and view all the answers

What is the main use of GWAS data in conjunction with clinical records, environmental data, and lifestyle data?

To identify genetic variants that may have clinical significance in specific populations Signup and view all the answers

What aspect of genetics can GWAS data be used to study in non-human species, such as animals and plants?

Population genetics and evolution Signup and view all the answers

Which diseases or conditions are NOT mentioned as being studied using GWAS data?

Infectious diseases Signup and view all the answers

What is the most common type of variation found in individuals' DNA?

SNPs Signup and view all the answers

Which method is making GWAS more accessible?

Advances in technology and analysis methods Signup and view all the answers

Which resource can be used for self-directed learning by accessing GWAS data?

Genome-wide Association Studies (GWAS) Explorer Signup and view all the answers

Which aspect of health can GWAS data help understand the complex interplay between genetics and health?

Clinical significance in specific populations Signup and view all the answers

Which molecular process affects how the genome is regulated without changing the DNA?

DNA methylation Signup and view all the answers

What is the primary goal of genomics surveillance?

Monitoring changes in genetic material of pathogens Signup and view all the answers

What is the main contribution of model organisms to comparative genomics?

Identifying novel genes Signup and view all the answers

How do epigenetic modifications impact gene regulation?

By determining when genes are turned on or off Signup and view all the answers

What is the primary purpose of the COVID-19 Genomics UK (COG-UK) Consortium?

Delivering large-scale and rapid whole-genome virus sequencing Signup and view all the answers

What contributes to the Single Nucleotide Polymorphisms (SNP) database?

Human genome variation projects Signup and view all the answers

What is the significance of identifying genetic variants for type-2 diabetes, rheumatoid arthritis, and osteoporosis through genome-wide association studies (GWAS)?

It informs public health responses for managing diseases Signup and view all the answers

Study Notes

Genome-wide association studies (GWAS) have identified genetic variants for type-2 diabetes, rheumatoid arthritis, and osteoporosis.
GWAS in Diabetes Type II: Venn diagram of intersection between loci associated at genome-wide significance with type-2 diabetes, measures of adiposity, and glucose homeostasis shows six metabolic traits with genome-wide significant associations.
Waist-Height ratio: Human genome variation projects and their contribution to the Single Nucleotide Polymorphisms (SNP) database.
HapMap: Genome (Phase 2) and other projects.
Model organisms: Prokaryotic and eukaryotic species with separate genome projects have contributed to comparative genomics, helping to identify novel genes and providing vital information for the Human Genome Project.
Epigenetics: A molecular process that affects how our genome is regulated without changing the DNA, determining when genes are turned on or off, and controlling the structure of the genome.
Epigenetics and Environment: Epigenetic modifications are transient, reversible, and can be inherited. They can have a significant impact on us and can be influenced by external factors such as diet, lifestyle, and stress.
Epigenetics and Cancer: Nearly all cancers display different epigenetic patterns than typical, healthy cells.
Genomics Surveillance: Sequencing the genetic material of pathogens to monitor changes, identify new variants, and inform public health responses.
COVID-19 Genomics UK (COG-UK) Consortium: Delivering large-scale and rapid whole-genome virus sequencing to hospitals, local NHS centers, and the UK government to manage the COVID-19 outbreak and inform interventions, vaccine research efforts, and policy decisions.
Comparative genomics: Identifying many novel genes and vital for the Human Genome Project by mapping human homologs, providing new "candidate" genes for inherited diseases.
Epigenetic modifications: DNA methylation, histone modification, and non-coding microRNAs.
Epigenetics and Cancer: Nearly all cancers display different epigenetic patterns to typical, healthy cells, which can help to grade the current stage of a cancer or to track the disease as it progresses over time.
Epigenetics: Most epigenetic modifications are transient and reversible but can also be inherited, allowing cells to respond and adapt to changes in the environment and behavior.
Epigenetics and our Environment: Epigenetic modifications can be influenced by external factors, such as diet and lifestyle, including stress, and can have a significant impact on us.
Epigenetics tagging the genome: Epigenetic modifications include DNA methylation, histone modification, and non-coding microRNAs.
Epigenetics and Cancer: Epigenetic modifications play a role in the development and progression of cancer, and understanding these modifications can lead to new treatments and therapeutic targets.

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Description

Test your knowledge on human genomic variation and the differences in a person’s DNA compared to others. Learn about the creation of reference human genome sequences and the detection of genomic variants in sequenced human genomes.