The Human Body PJ1311 Introduction to Genomics PDF

The Human Body PJ1311 Introduction to Genomics Prepared and Presented by Kandil Lectures We will be covering 3 lectures on Genomics 1. Introduction to Genomics 2. The central dogma of life (Transcription ,Translation) 3. Cell cycle and control mechanism Introduction to Gen...

The Human Body PJ1311 Introduction to Genomics Prepared and Presented by Kandil Lectures We will be covering 3 lectures on Genomics 1. Introduction to Genomics 2. The central dogma of life (Transcription ,Translation) 3. Cell cycle and control mechanism Introduction to Genomics Content What do we mean by Genome and Genomics? What is the difference between Genetics and Genomics Gene structure. Types of Genomics The human genome Project  Millestones Goals Why do we need to sequence Genome?  What is Genomics Genome The genome is the entire set of DNA instructions found in a cell. In humans, the genome consists of 23 pairs of chromosomes located in the cell’s nucleus, as well as a small chromosome in the cell’s mitochondria. A genome contains all the information needed for an individual to develop and function. Genomics -It is the study of the complete human genome (DNA), its structure and how it functions. -It is the study of the genes in our DNA, their functions and their influence on the growth, development and working of the body using a variety of techniques to look at the body’s DNA and associated compounds.(NHS UK)   Genomics is the study of the DIFFERENC entirety of an organism’s genes.  Genomics addresses all E genes and their inter BETWEEN relationships.  Genomics looks at the big picture and examines all the genes as an entire system GENETICS Genetics involves the study of functions and composition of GENOMICS the single gene. Genetics looks at single genes, one at a time, like a picture or snapshot.  Some important terms Genome: the complete set of genes or genetic material present in a cell or organism. Gene :the hereditary unit which is specific sequence of nucleotides.Some genes act as instructions to make proteins. However, many genes do not code for proteins. Chromosome: DNA molecule is packaged into thread-like structures called chromosomes. Each chromosome is made up of DNA tightly coiled many times around proteins called histones that support its structure The human genome has 23 pairs of chromosomes located in the nucleus of somatic cells. Chromosomes are strands of DNA wrapped around proteins called histones. Chromosomes contain small segments of DNA called genes, which code for proteins. DNA is made of nucleotides. Nucleotides are the DNA "code" and determine what proteins are made by a given gene. Gene structure Gene structure cont.. Introns: Derived from the term "intragenic regions", are non-coding sections of precursor mRNA (pre-mRNA). Exons: Are coding sections that remain in the mRNA sequence. INTRONS AND EXONS INTRONS AND EXONS Introns are common in eukaryotic pre-mRNA, but in prokaryotes they are only found in tRNA and rRNA. Unlike introns, exons are coding sections that remain in the mRNA sequence. INTRONS AND EXONS It is now recognized that introns are "a complex mix of different DNA, much of which are vital to the life of the cell”. Introns produce a major selection advantage and consequently are characteristic of higher, more developed organisms. why are introns important? Introns allow for alternative splicing of exons to create multiple proteins from one gene sequence Introns can generate non coding RNAs that influence gene expression Introns are involved in some special regulatory functions. The relationship of introns to cancer and their use as tumor markers is also being explored.  FUNCTIONAL GENOMICS. STRUCTURAL GENOMICS  Aims to collect and use data from sequencing for describing gene  Aims to determine structure of every and protein functions protein encoded by the genome.  Functions of genes and non-gene  Identify novel protein folds and 3- D sequences in genomes structures for better understanding  Gene and protein interactions the functions of proteins. Genotype- phenotypes. TYPE OF MUTATIONAL GENOMICS COMPARATIVE GENOMICS  Aims to compare genomic GENOMICS  The study of genome in terms of mutations that occur in an features between different individual’s DNA or genome species e.g. for better  One of the aspect of functional understanding the evolutionary genomics. relationships.  Also referred as gene function  To determine the function of each determination. genome E.g studying genes in  Aim to determine function of model organisms. gene.  HISTORY OF GENOMICS Genomics can be said to have appeared in the 1980s, and took off in the 1990s with the initiation of genome projects for several biological species. The most important tools here are microarrays and bioinformatics.  HISTORY OF GENOMICS cont… Molecular biology laboratories was one of the key factors in the development of the genomics. Laboratory automation led to the production of large amounts of data. The need to analyze ,combine and understand these data resulted in development of “Bioinformatics”  Task 1 Genomic Glossary ( 10 min) Genomic Glossary https://www.genomicseducation.hee.nhs.uk/glossary/ Work in groups of 5 to explore key vocabulary terms related to genomics. Each group will select 10 words, research their meanings, and create a brief definition for each term. E.g Allele Genotype Phenotype  HUMAN GENOME PROJECT The Human Genome The Human Genome Project, which was led at the National Institutes of Health (NIH) by the National Human Genome Research Institute, produced a very high-quality version of the human genome sequence that is freely available in public databases. The human genome is by far the most complex and largest genome. Its size spans a length of about 6 feet of DNA, containing 30,000 to 40,000 genes.  HUMAN GENOME PROJECT This project was launched in 1986 by Charles DeLisi and was originally planned to last for 15 years. On April 14, 2003, the International Human Genome Sequencing Consortium announces the successful completion of the Human Genome Project. Th project was of 13 year effort and was coordinated by the –Department of Energy (DOE) and  HUMAN GENOME PROJECT Goals Identify the approximate genes in human DNA. Determine the sequences of 3 billion chemical base pairs that make up human DNA. Store this information in databases. Improve tools for data analysis.  HUMAN GENOME PROJECT Goals Transfer related technologies to the private sector. Address the ethical, legal and social issues (ELSI), that may arise from the project.  HUMAN GENOME PROJECT The Human Genome Timeline The Time line :https://www.genome.gov/human-genome-project/timeline  HUMAN GENOME PROJECT Milestones 1986 The birth of the Human Genome Project. 1990 Project initiated as joint effort of US Department of Energy and the National Institute of Health. 1994 Genetic Privacy Act: to regulate collection, analysis, storage and use of DNA samples and genetic information is proposed.  HUMAN GENOME PROJECT Milestones 1996 Welcome Trust joins the project. 1998 Celera Genomics formed to sequence much of the human genome in 3 years. 1999 Completion of the sequence of Chromosome 22-the first human chromosome to be sequenced. 2000 Completion of the working draft of the entire human genome.  HUMAN GENOME PROJECT Milestones 2001 Analysis of the working draft are published. 2003 HGP sequencing is completed and Project is declared finished two years ahead of schedule.  Whose DNA is being sequenced? – Used samples from of blood (female) and sperm (male) from a large number of people. – Celera Genomics collected samples from individuals who were Hispanic, Asian, Caucasian, and African-American. – The donor identities were protected.  The process of determining the human genome first involves genome mapping, or characterizing the chromosomes. This is called a genetic map. The next step is DNA sequencing ,or determining the order of DNA bases on a chromosome. These are physical maps. DNA sequencing techniques enables scientists to determine the exact order or sequence of the bases of a genome. Sequencing strategies ⚫ To sequence DNA, it must be first be amplified,or increased in quantity. ⚫ Two types of DNA amplifications are cloning and Polymerase Chain Reactions (PCR). ⚫ Now that the DNA has been amplified, sequencing can begin. ⚫ Sequencing techniques used in HGP are:- 1)Sanger sequencing method 2)Shotgun sequencing method Sequencing strategies: Sanger method Watch these videos https://www.youtube.co m/watch?v=dVRB4CaLiz c https://www.youtube.co m/watch?v=e2G5zx-OJI w  Sequencing strategies: Shotgun method WATCH THIS VIDEO https://www.youtube.com/watch?v=B_ebMtsGSb0  The sequence information of the genome will show,  the position of every gene along the chromosome,  the regulatory regions that flank each gene,  the coding sequence that determines the protein produced by each gene.  Lessons from The Human Genome Project https://www.youtube.com/watch?v=qOW5e4BgEa4 1.Understanding of Genetic Blueprint: The Human Genome Project mapped the entire human genome, providing a comprehensive blueprint of human DNA and revealing the full sequence of approximately 3 billion base pairs. 2.Complexity of Genetics: It demonstrated that the relationship between genes and traits is far more complex than expected, with many genes influencing single traits and environmental factors playing a crucial role. 3.Fewer Genes Than Expected: Initially, scientists estimated that humans had over 100,000 genes, but the HGP revealed only about 20,000-25,000 protein-coding genes, highlighting the importance of non-coding DNA. 4.Significance of Non-Coding DNA: Much of the genome is non-coding, meaning it does not directly produce proteins. This non-coding DNA, once thought to be “junk,” has regulatory and other vital functions  WHY do we need to sequence genomes? Molecular Medicine improve diagnosis of disease/Prevention of disease detect genetic predispositions to disease Genetic counselling carrier status Discovery and implementation of effective treatment Personalized medicine to Tailoring drug treatments based on a patient's genetic profile Video https://www.genomicseducation.hee.nhs.uk/education/videos/my-genomics-journey-thr ee-perspectives/ Microbial Genomics rapidly detect and treat pathogens (disease-causing microbes) in clinical practice develop new energy sources (biofuels) monitor environments to detect pollutants clean up toxic waste safely and efficiently. https://www.england.nhs.uk/long-read/accelerating-genomic-medicine-in-the-nhs/ WHY do we need to sequence genomes? cont..? Risk Assessment evaluate the health risks faced by individuals who may be exposed to radiation and to cancer-causing chemicals and toxins DNA Identification (Forensics) Identify potential suspects whose DNA may match evidence left at crime scenes (https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7444828/)  Short tandem repeats (STRs) or a microsatellite consisting of short repeating motifs contained within a small fragment size, has become the gold standard in forensic DNA profiling establish paternity and other family relationships identify endangered and protected species as an aid to wildlife officials detect bacteria and other organisms that may pollute air, water, soil, and food match organ donors with recipients in transplant programs The end of the beginning.. The complete genome sequence was missing one small piece: The Y chromosome Now, the smallest member of the human chromosome family has been fully sequenced, completing a puzzle that's taken three decades to solve.24 Aug 2023  Genomic Information Programme https://www.genomicseducation.hee.nhs.uk/product-tag/commun The U.K. 100,000 Genomes Project Investigating the role of genome sequencing in patients with undiagnosed rare diseases after usual care. Other parts of this project focus on patients with cancer and infection.  Summary Genomics is the study of the complete human genome (DNA), its structure and how it functions. Genetics involves the study of functions and composition of the single gene. looks at single genes, one at a time, like a picture or snapshot which differs from Genomics which addresses all genes and their inter relationships and looks at the big picture. The structure of the gene and importance of exons and introns. The human genome project milestones and goals. Genomics played a central role in the recent transformation of medicine and surgery, making contributions to prevention of disease, to detection and precise diagnosis, and to effective treatment Vevox To participate in live polls, contribute questions and view live results access Vevox from your web browser vevox.app ID: 173-180-727 Vevox To participate in live polls, contribute questions and view live results access Vevox from your web browser vevox.app ID: 173-180-727