Feature story from the Garvan Institute of Medical Research's April 2013 issue of Breakthrough newsletter. More at https://www.garvan.org.au/news-events/newsletters
The human genome consists of the complete set of genetic information encoded as DNA sequences within 23 chromosome pairs and mitochondria. While there are differences among individuals, these differences are smaller than between humans and other species like chimpanzees. The genome includes both protein-coding genes and noncoding DNA, which can regulate genes or have other functions. Some common genetic disorders are caused by mutations in single genes, like cystic fibrosis from mutations in the CFTR gene. While individually rare, genetic disorders collectively represent a significant portion of medical conditions due to the many genes that can vary to cause disease.
This document discusses genetics and how they relate to health and disease. Some key points:
1) Modern science used to believe genetics determined health and disease, but research now shows genetics can be programmed and influenced by lifestyle choices.
2) In 1997, cloning an adult sheep proved that cells retain genetic information from all stages of life and can be reprogrammed, challenging ideas of predetermined aging and health.
3) Each cell contains a "hologram" of perfect health, so if poor health exists, it's due to environmental factors distorting genetic expression over time.
4) Medications, toxins, and poor lifestyle accumulate "junk DNA" that distorts genetic expression and programming,
1. Non-coding DNA makes up the majority of DNA in eukaryotic organisms but does not encode for proteins. It was once referred to as "junk DNA" but is now known to have important functions.
2. There are several types of non-coding DNA, including regulatory elements, introns, pseudogenes, repeats, transposons, telomeres, and various non-coding RNAs.
3. While the amount of non-coding DNA varies between species, it plays roles in chromosome structure, gene expression regulation, and protecting the genome from degradation.
Coding DNA sequences that encode proteins make up less than 2% of the human genome. The remaining 98% is non-coding DNA, which includes regulatory sequences, introns, repetitive elements, and other sequences not represented in proteins. While protein-coding genes have been well-studied, non-coding DNA serves numerous important functions and makes up the vast majority of the genome. Gene mapping involves assigning DNA fragments to chromosomes to create a genetic map, with the distance between genes proportional to recombination frequency.
this is done by me and my team mates of Wayamba University Sri Lanka for our project.From now we decided to allow download this file.I would be greatful if you could send your comments..
And I'm willing to help you in similar works.I'm in final year of my degree(.BSc Biotechnology)..
pubudu_gokarella@yahoo.com
The document discusses repetitive DNA elements in human chromosomes, focusing on tandem repeats classified as satellites, minisatellites, and microsatellites. It describes the characteristics of each type of repeat, including length, copy number, location, and uses. Variable number tandem repeats (VNTRs) are highlighted as being highly polymorphic due to variation in repeat number between individuals, making them useful for genetic analysis and forensic identification.
Human genome, genetic mapping, cloning, and cryonicsEemlliuq Agalalan
This document discusses the science of cryonics, which is the process of preserving humans in extremely cold temperatures after death with the goal of future revival. It explains that cryonics was first proposed by Robert Ettinger in the 1960s based on the idea that future medical advances may allow revival after freezing. The document outlines the cryonics process which involves replacing water in the body with antifreeze chemicals to prevent ice damage before freezing the body. It notes that the goal of cryonics is to use future nanotechnology and repair techniques to potentially revive frozen patients. The oldest cryonics patient currently preserved is from 1967.
The document discusses the human genome project, which aimed to sequence the entire human genome and identify all human genes. It provides background on the human genome, describing its size, number of genes, and chromosomes. It details the goals and milestones of the human genome project from 1986 to 2003. Vectors like yeast artificial chromosomes and bacterial artificial chromosomes were used to clone large fragments of DNA for sequencing.
The human genome consists of the complete set of genetic information encoded as DNA sequences within 23 chromosome pairs and mitochondria. While there are differences among individuals, these differences are smaller than between humans and other species like chimpanzees. The genome includes both protein-coding genes and noncoding DNA, which can regulate genes or have other functions. Some common genetic disorders are caused by mutations in single genes, like cystic fibrosis from mutations in the CFTR gene. While individually rare, genetic disorders collectively represent a significant portion of medical conditions due to the many genes that can vary to cause disease.
This document discusses genetics and how they relate to health and disease. Some key points:
1) Modern science used to believe genetics determined health and disease, but research now shows genetics can be programmed and influenced by lifestyle choices.
2) In 1997, cloning an adult sheep proved that cells retain genetic information from all stages of life and can be reprogrammed, challenging ideas of predetermined aging and health.
3) Each cell contains a "hologram" of perfect health, so if poor health exists, it's due to environmental factors distorting genetic expression over time.
4) Medications, toxins, and poor lifestyle accumulate "junk DNA" that distorts genetic expression and programming,
1. Non-coding DNA makes up the majority of DNA in eukaryotic organisms but does not encode for proteins. It was once referred to as "junk DNA" but is now known to have important functions.
2. There are several types of non-coding DNA, including regulatory elements, introns, pseudogenes, repeats, transposons, telomeres, and various non-coding RNAs.
3. While the amount of non-coding DNA varies between species, it plays roles in chromosome structure, gene expression regulation, and protecting the genome from degradation.
Coding DNA sequences that encode proteins make up less than 2% of the human genome. The remaining 98% is non-coding DNA, which includes regulatory sequences, introns, repetitive elements, and other sequences not represented in proteins. While protein-coding genes have been well-studied, non-coding DNA serves numerous important functions and makes up the vast majority of the genome. Gene mapping involves assigning DNA fragments to chromosomes to create a genetic map, with the distance between genes proportional to recombination frequency.
this is done by me and my team mates of Wayamba University Sri Lanka for our project.From now we decided to allow download this file.I would be greatful if you could send your comments..
And I'm willing to help you in similar works.I'm in final year of my degree(.BSc Biotechnology)..
pubudu_gokarella@yahoo.com
The document discusses repetitive DNA elements in human chromosomes, focusing on tandem repeats classified as satellites, minisatellites, and microsatellites. It describes the characteristics of each type of repeat, including length, copy number, location, and uses. Variable number tandem repeats (VNTRs) are highlighted as being highly polymorphic due to variation in repeat number between individuals, making them useful for genetic analysis and forensic identification.
Human genome, genetic mapping, cloning, and cryonicsEemlliuq Agalalan
This document discusses the science of cryonics, which is the process of preserving humans in extremely cold temperatures after death with the goal of future revival. It explains that cryonics was first proposed by Robert Ettinger in the 1960s based on the idea that future medical advances may allow revival after freezing. The document outlines the cryonics process which involves replacing water in the body with antifreeze chemicals to prevent ice damage before freezing the body. It notes that the goal of cryonics is to use future nanotechnology and repair techniques to potentially revive frozen patients. The oldest cryonics patient currently preserved is from 1967.
The document discusses the human genome project, which aimed to sequence the entire human genome and identify all human genes. It provides background on the human genome, describing its size, number of genes, and chromosomes. It details the goals and milestones of the human genome project from 1986 to 2003. Vectors like yeast artificial chromosomes and bacterial artificial chromosomes were used to clone large fragments of DNA for sequencing.
The document summarizes key aspects of the human genome and genome projects. It discusses that a genome contains an organism's complete DNA including all genes. It describes the physical structure of human DNA including nuclear DNA, mitochondrial DNA, and RNA. It provides details on the goals and completion of the Human Genome Project in 2003, two years ahead of schedule. The project aimed to identify all human genes and map the 3 billion base pairs of human DNA.
The document provides information about Marwan Alhalabi, a professor of reproductive medicine and clinical director of an assisted reproduction center in Damascus, Syria. It then discusses the human genome project, including its goals to sequence human DNA and identify genes. It explains key concepts such as genes, genomes, DNA, RNA, transcription and translation. The rest of the document outlines various applications and ethical considerations of genomic research.
This document provides an overview of genomics, including its history, major research areas, and applications. Genomics is concerned with studying the genomes of organisms, including determining entire DNA sequences and genetic mapping. Major research areas discussed include bacteriophage, human, computational, and comparative genomics. Applications of genomics discussed include functional genomics, predictive medicine, metagenomics for medicine, biofuels and more. The first genomes sequenced were small viruses and mitochondria, while the human genome project aimed to map the entire human DNA sequence.
The Human Genome Project aimed to sequence the entire human genome and map all human genes. It used techniques like restriction fragment length polymorphisms, automated DNA sequencing, and polymerase chain reaction to isolate DNA, cut it into fragments using restriction enzymes, separate the fragments via gel electrophoresis, transfer them to membranes, and allow probes to hybridize and identify specific sequences through complementary base pairing. The goal was to discover the approximately 35,000 human genes and make their sequences available for further study.
This document outlines the structure and content of a three-part lecture series on the human genome taking place from October 12-16, 2014. Part I will provide an introduction and overview of genome sequencing technologies. Part II will discuss the human genome project and sequencing methods. Part III will cover genome assembly, annotation, outcomes including the number of genes and functional categories, and applications such as SNP analysis and genome-wide association studies. The overall goals are to understand principles of genome analysis and the impacts of the human genome project.
The genome is the complete set of genetic material within an organism. It is made up of DNA organized into chromosomes, which contain genes that specify traits. Sequencing the genome involves determining the order of nitrogenous bases that make up the DNA. While genome sequencing was previously very expensive, cost reductions have allowed researchers to study DNA variations within families to link genes to diseases.
The language of life (all the subtitles)first ppt 2 bimesterSofia Paz
1. Genes are segments of DNA that provide instructions for making proteins. DNA is packaged into chromosomes, and the complete set of human genes is called the genome.
2. Transcription is the process where DNA is copied into messenger RNA (mRNA), which carries the gene instructions out of the nucleus. The mRNA is then spliced to remove introns.
3. Translation occurs when the mRNA attaches to ribosomes and transfer RNA (tRNA) to produce a chain of amino acids or protein based on the mRNA codons, from start to stop codons. Each codon codes for a specific amino acid.
The human genome contains around 3 billion base pairs and 20,000-25,000 genes. Genes code for proteins and can vary in length from 1,000 to over 1.5 million base pairs. While genes make up about 1-1.4% of the genome, the remaining non-coding regions also play important regulatory roles. Genetic variations, from single mutations to complex interactions between multiple genes and the environment, underlie many diseases. New sequencing technologies are helping researchers better understand these relationships and develop personalized prevention and treatment approaches.
Genetic organization of eukaryotes and prokaryotes Theabhi.in
The document discusses the genetic organization of prokaryotes and eukaryotes. Prokaryotes typically have a single circular chromosome, while eukaryotes have multiple linear chromosomes contained within a nucleus. The prokaryotic genome is much smaller than the eukaryotic genome. Key differences include prokaryotes lacking membrane-bound organelles and having genes that are not interrupted by non-coding sequences like introns.
Nuclear Genomes(Short Answers and questions)Zohaib HUSSAIN
1. What did researchers find when they sequenced the centromeres of Arabidopsis? Why was this finding surprising?
Ans: Before the Arabidopsis sequences were obtained it was thought that these repeat sequences were by far the principal component of centromeric DNA. However, Arabidopsis centromeres also contain multiple copies of genome-wide repeats, along with a few genes, the latter at a density of 7–9 per 100 kb compared with 25 genes per 100 kb for the noncentromeric regions of Arabidopsis chromosomes. The discovery that centromeric DNA contains genes was a big surprise because it was thought that these regions were genetically inactive.
2. What differences in gene distribution and repetitive DNA content are seen when yeast and human chromosomes are compared?
Ans. A typical region of a human chromosome will have few genes (most of which will contain introns), several repeated sequences, and a large amount of nonrepetitive, nongenic DNA. Yeast chromosomes have higher gene densities, with very few genes containing introns, and have few repeated sequences and much less nongenic DNA.
3. The human genome contains about 50,000 fewer genes than was predicted by many researchers. Why were these initial predictions so high?
Ans. These early estimates were high because they were based on the supposition that, in most cases, a single gene specifies a single mRNA and a single protein. According to this model, the number of genes in the human genome should be similar to the number of proteins in human cells, leading to the estimates of 80,000–100,000. The discovery that the number of genes is much lower than this indicates that alternative splicing, the process by which exons from a pre-mRNA are assembled in different combinations so that more than one protein can be coded by a single gene is more prevalent than was originally appreciated.
4. What are the different methods used to catalog genes? What are the advantages or disadvantages of these methods?
Ans. Gene catalogs can be based on the known functions of genes, but such catalogs are incomplete because in most genomes many genes have unknown functions. Gene catalogs that are based on the identities of protein domains coded by genes are more comprehensive as these include many genes whose specific functions are unknown.
5. What is the function of the different genes in the human globin gene families?
Ans. The globins are the blood proteins that combine to make hemoglobin, each molecule of hemoglobin being made up of two a-type and two b-type globins.The a-globin cluster is located on chromosome 16 and the b-cluster on chromosome 11. Both clusters contain genes that are expressed at different developmental stages and each includes at least one pseudogene. Note that expression of the a-type gene x2 begins in the embryo and continues during the fetal stage; there is no fetal-specific a-type globin. The q pseudogene is expressed but its protein product is inactive. None of the other p
The document discusses genome sequencing and related topics. It begins by defining what a genome is - the complete set of DNA in an organism. It then discusses the different types of genomes, such as prokaryotic and eukaryotic, including nuclear, mitochondrial, and chloroplast genomes. The document also defines genomics as the comprehensive study of whole genomes and all gene interactions, distinguishing it from traditional genetics which focuses on single genes. It outlines some key milestones in genomic sequencing and the technical foundations that enabled sequencing whole genomes. Finally, it describes the main approaches used for genome sequencing projects, including hierarchical shotgun sequencing and whole genome shotgun sequencing.
A retrospective look at the state of many famous modern genome sequences, and a cautionary tale of the dangers in assuming that genome sequence and/or its annotations are finished.
Mitochondrial DNA is circular DNA located in the mitochondria of cells. It is 16kb in size and encodes 37 genes. Mitochondrial DNA is only inherited from the mother and differs from nuclear DNA in several key ways, such as being maternally inherited only. Mutations in mitochondrial DNA can cause diseases often involving the central nervous system or musculoskeletal system. The high mutation rate of mitochondrial DNA is due to lack of protective histones and DNA repair mechanisms.
Recombinant DNA Technology, Forensic DNA Analysis and Human Genome ProjectNateneal Tamerat
Recombinant DNA technology involves joining DNA fragments from different organisms to produce new genetic combinations. It was developed in the 1970s using restriction enzymes, which cut DNA at specific sites. DNA is isolated, cut, and inserted into vectors like plasmids or bacteria, then inserted into host cells. Applications include forensic analysis by matching crime scene DNA to databases, agriculture, diagnosing genetic diseases, and the Human Genome Project, which sequenced the entire human genome in 2001 and revealed insights about human genetics and evolution.
This document provides information about genomics and its various applications. It discusses the history of genomics including key figures like Hans Winkler, Tom Roderick and Frederick Sanger. It describes different areas of genomics like structural, functional, comparative and mutational genomics. It also discusses the human genome project, its goals and applications in healthcare, agriculture and forensics. In healthcare, genomics is helping in early disease detection, diagnosis and targeted therapies. The document highlights success in advancing cancer research and treatments.
Prokaryotic genomes are circular, double-stranded DNA contained within the nucleoid. They vary in length but are generally a few million base pairs. DNA supercoiling allows for tight packing of the genome.
Eukaryotic genomes are linear chromosomes associated with histone proteins within the nucleus. The DNA is wrapped around histone octamers to form nucleosomes, compacting the genome. Eukaryotic genomes are generally larger and contain more DNA than prokaryotic genomes.
Key differences between prokaryotic and eukaryotic genomes include genome size, number of chromosomes, ploidy level, association with histones, and method of compaction.
DNA fingerprinting involves isolating DNA from a sample, cutting it into fragments using restriction enzymes, separating the fragments by size through gel electrophoresis, and comparing the unique band patterns to identify individuals. It has various forensic and medical uses such as identifying crime suspects by comparing DNA profiles, determining paternity in legal cases, and diagnosing inherited disorders. The chances of any two individuals having the exact same DNA profile are extremely low, making DNA fingerprinting a powerful tool for individual identification.
The document provides an overview of DNA and genomes. It discusses the key discoveries in DNA structure including the double helix model proposed by Watson and Crick. It describes the components of DNA, including nucleotides, bases, sugars, and phosphates. It explains how the bases pair with each other and the structure of the DNA double helix. It also summarizes genome sizes from viruses to humans and differences between prokaryotic and eukaryotic genomes.
Microsatellites are short tandem repeats of DNA motifs between 1-9 base pairs found throughout genomes. They have high mutation rates and genetic diversity. Microsatellites are used for DNA fingerprinting, identifying individuals in forensics and paternity testing, and studying population genetics and genetic diseases like triplet expansion disorders.
Genetic engineering involves artificially manipulating or altering genes by removing a gene from one organism and inserting it into the DNA of another organism. This process involves using restriction enzymes to cut out the gene of interest and using vectors to splice the gene fragment into the recipient organism's DNA, creating a genetically modified organism. Some examples of genetic engineering applications include using E. coli bacteria to produce synthetic insulin for diabetes treatment and genetically modifying rice to produce beta-carotene to address vitamin A deficiencies. However, some genetic engineering techniques like reproductive cloning and stem cell research involving human embryos remain ethically controversial.
Describe in your own words the benefits, but also the problems of ha.pdfarenamobiles123
Describe in your own words the benefits, but also the problems of having the human genome
deciphered. Write several paragraphs.
Solution
The history of the human race has been filled with curiosity and discovery about our abilities and
limitations. As an egotistical creature with a seemingly unstoppable desire for new
accomplishments, we attempt feats with emotion and tenacity. People worldwide raced to be the
first to discover the secrets and the ability of flight. Enormous amounts of monies were spent on
sending people into space and the race to land on the moon. With the rapid growth of scientific
knowledge and experimental methods, humans have begun to unravel and challenge another
mystery, the discovery of the entire genetic make-up of the human body.
This endeavor, the Human Genome Project (HGP), has created hopes and expectations about
better health care. It has also brought forth serious social issues. To understand the potential
positive and negative issues, we must first understand the history and technical aspects of the
HGP.
History of the Human Genome Project
The HGP has an ultimate goal of identifying and locating the positions of all genes in the human
body. A researcher named Renato Dulbecco first suggested the idea of such a project while the
U.S. Department of Energy (DOE) was also considering the same project because issues related
to radiation and chemical exposure were being raised. Military and civilian populations were
being exposed to radiation and possible carcinogenic chemicals through atomic testing, the use
of Agent Orange in Vietnam, and possible nuclear power facility accidents. Genetic knowledge
was needed to determine the resiliency of the human genome.
Worldwide discussion about a HGP began in 1985. In 1986, the DOE announced its\' Human
Genome Initiative which emphasized the development of resources and technologies for genome
mapping, sequencing, computation, and infrastructure support that would lead to the entire
human genome map. United States involvement began in October 1990 and was coordinated by
the DOE and the National Institute of Health (NIH). With an estimated cost of 3 billion dollars,
sources of funding also include the National Science Foundation (NSF) and the Howard Hughes
Medical Institute (HHMI). Because of the involvement of the NIH, DOE, and NSF who receive
U.S. Congressional funding, the HGP is partly funded through federal tax dollars. Expected to
last 15 years, technological advancements have accelerated the expected date of completion to
the year 2003. This completion date would coincide with the 50th anniversary of Watson and
Crick\'s description of the structure of DNA molecule.
Human Genome Project Goals
The specific goals of the HGP are to::
Technical Aspects of the HGP
Mapping Strategies
To sequence the human genome, maps are needed. Physical maps are a series of overlapping
pieces of DNA isolated in bacteria. Physical maps are used to describe the DNA\'s chemical
characteristics..
The document summarizes techniques used to study the human genome such as using restriction enzymes to cut DNA into fragments, gel electrophoresis to separate fragments by size, and DNA sequencing to read base pairs. It discusses the goals of the Human Genome Project including sequencing all human DNA and identifying genes. The project found the human genome contains 3 billion base pairs with only 2% encoding proteins. It also identified over 3 million single base differences between individuals and associated gene sequences with diseases.
The document summarizes key aspects of the human genome and genome projects. It discusses that a genome contains an organism's complete DNA including all genes. It describes the physical structure of human DNA including nuclear DNA, mitochondrial DNA, and RNA. It provides details on the goals and completion of the Human Genome Project in 2003, two years ahead of schedule. The project aimed to identify all human genes and map the 3 billion base pairs of human DNA.
The document provides information about Marwan Alhalabi, a professor of reproductive medicine and clinical director of an assisted reproduction center in Damascus, Syria. It then discusses the human genome project, including its goals to sequence human DNA and identify genes. It explains key concepts such as genes, genomes, DNA, RNA, transcription and translation. The rest of the document outlines various applications and ethical considerations of genomic research.
This document provides an overview of genomics, including its history, major research areas, and applications. Genomics is concerned with studying the genomes of organisms, including determining entire DNA sequences and genetic mapping. Major research areas discussed include bacteriophage, human, computational, and comparative genomics. Applications of genomics discussed include functional genomics, predictive medicine, metagenomics for medicine, biofuels and more. The first genomes sequenced were small viruses and mitochondria, while the human genome project aimed to map the entire human DNA sequence.
The Human Genome Project aimed to sequence the entire human genome and map all human genes. It used techniques like restriction fragment length polymorphisms, automated DNA sequencing, and polymerase chain reaction to isolate DNA, cut it into fragments using restriction enzymes, separate the fragments via gel electrophoresis, transfer them to membranes, and allow probes to hybridize and identify specific sequences through complementary base pairing. The goal was to discover the approximately 35,000 human genes and make their sequences available for further study.
This document outlines the structure and content of a three-part lecture series on the human genome taking place from October 12-16, 2014. Part I will provide an introduction and overview of genome sequencing technologies. Part II will discuss the human genome project and sequencing methods. Part III will cover genome assembly, annotation, outcomes including the number of genes and functional categories, and applications such as SNP analysis and genome-wide association studies. The overall goals are to understand principles of genome analysis and the impacts of the human genome project.
The genome is the complete set of genetic material within an organism. It is made up of DNA organized into chromosomes, which contain genes that specify traits. Sequencing the genome involves determining the order of nitrogenous bases that make up the DNA. While genome sequencing was previously very expensive, cost reductions have allowed researchers to study DNA variations within families to link genes to diseases.
The language of life (all the subtitles)first ppt 2 bimesterSofia Paz
1. Genes are segments of DNA that provide instructions for making proteins. DNA is packaged into chromosomes, and the complete set of human genes is called the genome.
2. Transcription is the process where DNA is copied into messenger RNA (mRNA), which carries the gene instructions out of the nucleus. The mRNA is then spliced to remove introns.
3. Translation occurs when the mRNA attaches to ribosomes and transfer RNA (tRNA) to produce a chain of amino acids or protein based on the mRNA codons, from start to stop codons. Each codon codes for a specific amino acid.
The human genome contains around 3 billion base pairs and 20,000-25,000 genes. Genes code for proteins and can vary in length from 1,000 to over 1.5 million base pairs. While genes make up about 1-1.4% of the genome, the remaining non-coding regions also play important regulatory roles. Genetic variations, from single mutations to complex interactions between multiple genes and the environment, underlie many diseases. New sequencing technologies are helping researchers better understand these relationships and develop personalized prevention and treatment approaches.
Genetic organization of eukaryotes and prokaryotes Theabhi.in
The document discusses the genetic organization of prokaryotes and eukaryotes. Prokaryotes typically have a single circular chromosome, while eukaryotes have multiple linear chromosomes contained within a nucleus. The prokaryotic genome is much smaller than the eukaryotic genome. Key differences include prokaryotes lacking membrane-bound organelles and having genes that are not interrupted by non-coding sequences like introns.
Nuclear Genomes(Short Answers and questions)Zohaib HUSSAIN
1. What did researchers find when they sequenced the centromeres of Arabidopsis? Why was this finding surprising?
Ans: Before the Arabidopsis sequences were obtained it was thought that these repeat sequences were by far the principal component of centromeric DNA. However, Arabidopsis centromeres also contain multiple copies of genome-wide repeats, along with a few genes, the latter at a density of 7–9 per 100 kb compared with 25 genes per 100 kb for the noncentromeric regions of Arabidopsis chromosomes. The discovery that centromeric DNA contains genes was a big surprise because it was thought that these regions were genetically inactive.
2. What differences in gene distribution and repetitive DNA content are seen when yeast and human chromosomes are compared?
Ans. A typical region of a human chromosome will have few genes (most of which will contain introns), several repeated sequences, and a large amount of nonrepetitive, nongenic DNA. Yeast chromosomes have higher gene densities, with very few genes containing introns, and have few repeated sequences and much less nongenic DNA.
3. The human genome contains about 50,000 fewer genes than was predicted by many researchers. Why were these initial predictions so high?
Ans. These early estimates were high because they were based on the supposition that, in most cases, a single gene specifies a single mRNA and a single protein. According to this model, the number of genes in the human genome should be similar to the number of proteins in human cells, leading to the estimates of 80,000–100,000. The discovery that the number of genes is much lower than this indicates that alternative splicing, the process by which exons from a pre-mRNA are assembled in different combinations so that more than one protein can be coded by a single gene is more prevalent than was originally appreciated.
4. What are the different methods used to catalog genes? What are the advantages or disadvantages of these methods?
Ans. Gene catalogs can be based on the known functions of genes, but such catalogs are incomplete because in most genomes many genes have unknown functions. Gene catalogs that are based on the identities of protein domains coded by genes are more comprehensive as these include many genes whose specific functions are unknown.
5. What is the function of the different genes in the human globin gene families?
Ans. The globins are the blood proteins that combine to make hemoglobin, each molecule of hemoglobin being made up of two a-type and two b-type globins.The a-globin cluster is located on chromosome 16 and the b-cluster on chromosome 11. Both clusters contain genes that are expressed at different developmental stages and each includes at least one pseudogene. Note that expression of the a-type gene x2 begins in the embryo and continues during the fetal stage; there is no fetal-specific a-type globin. The q pseudogene is expressed but its protein product is inactive. None of the other p
The document discusses genome sequencing and related topics. It begins by defining what a genome is - the complete set of DNA in an organism. It then discusses the different types of genomes, such as prokaryotic and eukaryotic, including nuclear, mitochondrial, and chloroplast genomes. The document also defines genomics as the comprehensive study of whole genomes and all gene interactions, distinguishing it from traditional genetics which focuses on single genes. It outlines some key milestones in genomic sequencing and the technical foundations that enabled sequencing whole genomes. Finally, it describes the main approaches used for genome sequencing projects, including hierarchical shotgun sequencing and whole genome shotgun sequencing.
A retrospective look at the state of many famous modern genome sequences, and a cautionary tale of the dangers in assuming that genome sequence and/or its annotations are finished.
Mitochondrial DNA is circular DNA located in the mitochondria of cells. It is 16kb in size and encodes 37 genes. Mitochondrial DNA is only inherited from the mother and differs from nuclear DNA in several key ways, such as being maternally inherited only. Mutations in mitochondrial DNA can cause diseases often involving the central nervous system or musculoskeletal system. The high mutation rate of mitochondrial DNA is due to lack of protective histones and DNA repair mechanisms.
Recombinant DNA Technology, Forensic DNA Analysis and Human Genome ProjectNateneal Tamerat
Recombinant DNA technology involves joining DNA fragments from different organisms to produce new genetic combinations. It was developed in the 1970s using restriction enzymes, which cut DNA at specific sites. DNA is isolated, cut, and inserted into vectors like plasmids or bacteria, then inserted into host cells. Applications include forensic analysis by matching crime scene DNA to databases, agriculture, diagnosing genetic diseases, and the Human Genome Project, which sequenced the entire human genome in 2001 and revealed insights about human genetics and evolution.
This document provides information about genomics and its various applications. It discusses the history of genomics including key figures like Hans Winkler, Tom Roderick and Frederick Sanger. It describes different areas of genomics like structural, functional, comparative and mutational genomics. It also discusses the human genome project, its goals and applications in healthcare, agriculture and forensics. In healthcare, genomics is helping in early disease detection, diagnosis and targeted therapies. The document highlights success in advancing cancer research and treatments.
Prokaryotic genomes are circular, double-stranded DNA contained within the nucleoid. They vary in length but are generally a few million base pairs. DNA supercoiling allows for tight packing of the genome.
Eukaryotic genomes are linear chromosomes associated with histone proteins within the nucleus. The DNA is wrapped around histone octamers to form nucleosomes, compacting the genome. Eukaryotic genomes are generally larger and contain more DNA than prokaryotic genomes.
Key differences between prokaryotic and eukaryotic genomes include genome size, number of chromosomes, ploidy level, association with histones, and method of compaction.
DNA fingerprinting involves isolating DNA from a sample, cutting it into fragments using restriction enzymes, separating the fragments by size through gel electrophoresis, and comparing the unique band patterns to identify individuals. It has various forensic and medical uses such as identifying crime suspects by comparing DNA profiles, determining paternity in legal cases, and diagnosing inherited disorders. The chances of any two individuals having the exact same DNA profile are extremely low, making DNA fingerprinting a powerful tool for individual identification.
The document provides an overview of DNA and genomes. It discusses the key discoveries in DNA structure including the double helix model proposed by Watson and Crick. It describes the components of DNA, including nucleotides, bases, sugars, and phosphates. It explains how the bases pair with each other and the structure of the DNA double helix. It also summarizes genome sizes from viruses to humans and differences between prokaryotic and eukaryotic genomes.
Microsatellites are short tandem repeats of DNA motifs between 1-9 base pairs found throughout genomes. They have high mutation rates and genetic diversity. Microsatellites are used for DNA fingerprinting, identifying individuals in forensics and paternity testing, and studying population genetics and genetic diseases like triplet expansion disorders.
Genetic engineering involves artificially manipulating or altering genes by removing a gene from one organism and inserting it into the DNA of another organism. This process involves using restriction enzymes to cut out the gene of interest and using vectors to splice the gene fragment into the recipient organism's DNA, creating a genetically modified organism. Some examples of genetic engineering applications include using E. coli bacteria to produce synthetic insulin for diabetes treatment and genetically modifying rice to produce beta-carotene to address vitamin A deficiencies. However, some genetic engineering techniques like reproductive cloning and stem cell research involving human embryos remain ethically controversial.
Describe in your own words the benefits, but also the problems of ha.pdfarenamobiles123
Describe in your own words the benefits, but also the problems of having the human genome
deciphered. Write several paragraphs.
Solution
The history of the human race has been filled with curiosity and discovery about our abilities and
limitations. As an egotistical creature with a seemingly unstoppable desire for new
accomplishments, we attempt feats with emotion and tenacity. People worldwide raced to be the
first to discover the secrets and the ability of flight. Enormous amounts of monies were spent on
sending people into space and the race to land on the moon. With the rapid growth of scientific
knowledge and experimental methods, humans have begun to unravel and challenge another
mystery, the discovery of the entire genetic make-up of the human body.
This endeavor, the Human Genome Project (HGP), has created hopes and expectations about
better health care. It has also brought forth serious social issues. To understand the potential
positive and negative issues, we must first understand the history and technical aspects of the
HGP.
History of the Human Genome Project
The HGP has an ultimate goal of identifying and locating the positions of all genes in the human
body. A researcher named Renato Dulbecco first suggested the idea of such a project while the
U.S. Department of Energy (DOE) was also considering the same project because issues related
to radiation and chemical exposure were being raised. Military and civilian populations were
being exposed to radiation and possible carcinogenic chemicals through atomic testing, the use
of Agent Orange in Vietnam, and possible nuclear power facility accidents. Genetic knowledge
was needed to determine the resiliency of the human genome.
Worldwide discussion about a HGP began in 1985. In 1986, the DOE announced its\' Human
Genome Initiative which emphasized the development of resources and technologies for genome
mapping, sequencing, computation, and infrastructure support that would lead to the entire
human genome map. United States involvement began in October 1990 and was coordinated by
the DOE and the National Institute of Health (NIH). With an estimated cost of 3 billion dollars,
sources of funding also include the National Science Foundation (NSF) and the Howard Hughes
Medical Institute (HHMI). Because of the involvement of the NIH, DOE, and NSF who receive
U.S. Congressional funding, the HGP is partly funded through federal tax dollars. Expected to
last 15 years, technological advancements have accelerated the expected date of completion to
the year 2003. This completion date would coincide with the 50th anniversary of Watson and
Crick\'s description of the structure of DNA molecule.
Human Genome Project Goals
The specific goals of the HGP are to::
Technical Aspects of the HGP
Mapping Strategies
To sequence the human genome, maps are needed. Physical maps are a series of overlapping
pieces of DNA isolated in bacteria. Physical maps are used to describe the DNA\'s chemical
characteristics..
The document summarizes techniques used to study the human genome such as using restriction enzymes to cut DNA into fragments, gel electrophoresis to separate fragments by size, and DNA sequencing to read base pairs. It discusses the goals of the Human Genome Project including sequencing all human DNA and identifying genes. The project found the human genome contains 3 billion base pairs with only 2% encoding proteins. It also identified over 3 million single base differences between individuals and associated gene sequences with diseases.
The human genome project aimed to map and sequence the entire human genome. It began in 1989 and was completed in 2003, two years ahead of schedule. Scientists used techniques like polymerase chain reaction and automated DNA sequencing to break chromosomes into fragments and determine the sequence of nucleotides in the genome. This provided insights into genes and enabled the potential for gene therapy and treatment of genetic diseases. However, the project also raised ethical issues about how the benefits would be distributed and potential risks of gene editing.
The human genome contains around 3 billion base pairs that make up DNA organized into 23 chromosome pairs. Genes are sections of DNA that code for proteins, and can range in size from 1,000 to over 1.5 million base pairs. The human genome project mapped all human genes, finding around 20,000-25,000 genes, with only 1.1-1.4% of the genome actually coding for proteins. Genetic variations like single gene mutations or multiple gene effects can cause inherited diseases or influence disease risk.
The human genome contains around 3 billion base pairs that make up DNA organized into 23 chromosome pairs. Genes are sections of DNA that code for proteins, and range in size from 1,000 to over 1.5 million base pairs. While the human genome was sequenced in 2003, it was found that only 1.1-1.4% of the genome directly codes for proteins. Genetic variations like single gene mutations can cause rare inherited neurological diseases, while complex multifactorial diseases depend on many genes and environmental factors. Understanding the relationship between genes and disease through sequencing may enable personalized medicine approaches in the future.
The DNA is the basis of our genetic code, we could almost say that we are all made of DNA; therefore all studies are trying to understand this important part of us. Over time, they have discovered that DNA contains all the instructions that control the development and function of every cell in our body. What we know is that the DNA is able to divide itself, replicating and giving two daughter strands which contain exactly the same information from DNA mother. Then these are transcribed into RNA and finally translated into proteins, this is what we know as the central dogma of genetic information.
Although nature seems to be so perfect there are some cases where this beautiful process fails, and this is where certain diseases are originated and can cause multiple problems. Scientists are increasingly closer to find answers and perhaps their studies can help in the future.
New treatments for Alzheimer's, autism and depression, could be developed.
It could be the starting point for future researches on genes involved in these diseases.
Knowing which genes are involved, people who are not sick yet, might prevent some disease.
These findings help us understand how diseases work and where they come from.
Encourages doctors and scientists to find more about this genes, to achieve excellent results that could benefit many people.
It gives us hope and determination to achieve incredible things in this medicine area; we know that humans are able to find and develop things that we have never imagine.
We know that DNA is the basis of everything, thus if we understand certain parts of it and what is involved on it, we would be able to control many diseases that affects society nowadays.
With these discovery we would be contributing to industry and researches.
new hypothesis could change the way we see things, and would make researchers focused in other cell structures such as ribosomes.
The cause of some diseases might not be in the DNA, but on the malfunctioning of ribosomes, in that way we must look for the real cause of them.
In my opinion this is a big step for medicine, although there is not yet a certain result, and they have to investigate more about the genes, they have a great part of the investigation that can guide them to find the solution to multiple diseases. I think that this kind of researches benefit a lot our society, because they are trying to improve people’s life, by finding the different places of de brain where illnesses are originated. With this project we can start thinking on possible cures and treatments for Alzheimer's, autism, depression and other disorders.
It's good to start investigating on other cellular structures that may be quite involved in the most complex processes of DNA. Scientists may have never wondered what real role of ribosome is. Thinking about new hypotheses and that maybe the ribosome is the central point is crazy but good, because they could be right.
Thank you for the summary. This gives a good overview of the key steps and findings from the microarray experiment comparing gene expression in normal vs cancerous cells.
The Human Genome Project (HGP) was an international scientific research project with the goal of determining the base pairs that make up human DNA, and of identifying and mapping all of the genes of the human genome from both a physical and a functional standpoint.
This document discusses the central dogma of genetics, how DNA is replicated and transcribed into RNA which is then translated into protein. It also discusses how mutations in genes can cause cancer and be inherited. Scientists found that inherited susceptibility to bowel cancer was common among patients with a family history of the disease. Retroviruses can incorporate their RNA genome into host cell DNA using reverse transcriptase. Endogenous retroviruses make up around 5% of human DNA and may play a role in brain cell development and function. Understanding genetic mutations could help develop new cancer therapies like gene editing. Retroviruses may also be used in the future for gene therapy and cancer prevention.
This document discusses the central dogma of genetics, how DNA is replicated and transcribed into RNA which is then translated into protein. It also discusses how mutated genes can cause cancer and be inherited. Studies found that inherited susceptibility to bowel cancer is common in families with a history of the disease, suggesting wider genetic testing. Retroviruses can integrate their RNA genome into host DNA using reverse transcriptase. Endogenous retroviruses make up about 5% of human DNA and may have played an important role in brain development and function over evolution. Retroviruses could potentially be used in gene therapy applications.
The human genome project was started in 1990 with the goal of sequencing and ...Rania Malik
The Human Genome Project was a 13-year effort that began in 1990 with the goal of sequencing the entire human genome and identifying all of the genes in order to better understand genetic diseases and develop new treatments. It involved mapping the genome by identifying genetic markers and then sequencing DNA using techniques like cloning and polymerase chain reaction to amplify DNA for analysis. The project was completed in 2003, earlier than expected due to advances in sequencing technology, providing a full sequence of the human genome.
Recombinant DNA technology allows scientists to isolate, clone, and manipulate specific genes. DNA from different species can be combined to produce new genetic combinations of value. Genes are cloned by inserting DNA fragments into vectors like plasmids, which are then inserted into host cells where they replicate numerous identical copies of the gene. This cloning process allows genes to be studied, sequenced, and modified in precise ways. Genetically modified organisms can then be produced by adding transgenes to organisms' genomes.
The document discusses the history and goals of the Human Genome Project, which began in 1990 with the aim of identifying all human genes and determining the sequence of DNA base pairs. Some key goals were to map all genes, determine DNA sequences, and address ethical issues. The project was completed earlier than expected in 2003 and has led to over 1,800 disease genes being discovered and many medical benefits like new diagnostic tests.
PharmaCon2007 Congress, Dubrovnik, Croatia "New Technologies and Trends in Pharmacy, Pharmaceutical Industry and Education" http://www.pharmacon2007.com
Abstract is available at http://www.pharmaconnectme.com
Genomics is the study of genomes, including the structures and functions of genomes. A genome is an organism's complete set of DNA and includes all of its genes. Genome sequencing projects map and sequence the entire DNA of different species to understand their genes. Important genome sequencing projects have included microorganisms, plants, insects, and humans. The Human Genome Project aimed to map and sequence the 3 billion base pairs in human DNA to identify all human genes.
What is bioinformatics?
About human genome
Human genome project
Aim of human genome project
History
Sequencing Strategy
Benefits of Human Genome Project research
Disadvantages of human genome project
Conclusion
References
The human genome project aimed to determine the complete DNA sequence of humans. It began in 1990 and was declared complete in 2003. The goals were to optimize data analysis, sequence the entire genome, and identify all human genes. Scientists isolated DNA from cells, broke it into fragments, cloned the fragments into hosts, and used Sanger sequencing to determine the sequence and arrange fragments into chromosomes. The project found that humans have around 30,000 genes, less than previously thought, and junk DNA makes up much of the genome. It has advanced disease research and treatments.
This document discusses the polymerase chain reaction (PCR) amplification of the Alu sequence, a repetitive element in the human genome, from DNA samples. The author describes extracting DNA from cheek cells using a buccal swab and saline rinse, then using PCR to amplify the Alu sequence region. After PCR, the amplified DNA fragments will be run on an agarose gel electrophoresis to check for the presence of the Alu sequence band. The results will then be compared between samples from the author's biology lab class and published data from the United States.
The document summarizes two scientific studies. The first study from Lund University found that retroviruses establish themselves in our genome and allow for expression of retroviral genes by acting as docking platforms for proteins. This may be connected to neurological diseases. The second study from Van Andel Research Institute described the mechanism of how the helicase enzyme works during DNA replication. Understanding retroviruses and helicase could lead to new therapies for diseases linked to issues with replication and retroviral expression.
Professor Gail Risbridger. Deputy Dean - Special Projects, MpCCC Research Director, Prostate Cancer Research Program, Monash University. http://www.garvan.org.au/news-events/leaders-in-science-and-society
Scientia Professor Katharina Gaus - EMBL Australia Node in Single Molecule Science, ARC Centre of Excellence in Advanced Molecular Imaging, University of New South Wales. http://www.garvan.org.au/news-events/leaders-in-science-and-society
Dr Kate Schroder - Deputy Director, IMB Centre for Inflammation and Disease Research, Institute for Molecular Bioscience. http://www.garvan.org.au/news-events/leaders-in-science-and-societ
Professor Philip E Scherer, Touchstone Diabetes Center, UT Southwestern Medical Center, Dallas // Assistant Professor Janelle Ayres, Nomis Center for Immunobiology & Microbial Pathogenesis, The Salk Institute of Biological Studies // Professor Jorge Ferrer, Faculty of Medicine, Department of Medicine, Imperial College London
Professor Louisa Jorm - Director, Centre for Big Data Research in Health, UNSW Australia. http://www.garvan.org.au/news-events/leaders-in-science-and-society
Professor Christina Mitchell will give a presentation titled "Regulation of Phosphoinositide 3-kinase signaling by Phosphoinositide Phosphatases" on June 20th at 12PM in the Auditorium. Professor Mitchell is the Academic Vice-President and Dean of the Faculty of Medicine, Nursing and Health Sciences at Monash University. She trained as a physician scientist specializing in clinical haematology and was the first woman appointed Dean of Medicine at a Group of Eight university in Australia.
Prof Richard Gibbs - Director, Baylor College of Medicine Human Genome Sequencing Centre
Wofford Cain Professor of Human & Molecular Genetics. http://www.garvan.org.au/news-events/leaders-in-science-and-society
Dr. Roberto Weigert will give a presentation titled "Molecular Mechanism of Membrane remodeling in Live Animals by Subcellular Intravital Microscopy". He is a Senior Investigator at the National Cancer Institute and National Institute of Dental and Craniofacial Research. Using subcellular intravital microscopy, his research studies membrane remodeling during trafficking events in live animals.
Charles Curran, who has extensive experience in Australian business and public life, will give a talk reflecting on economic and political developments in Australia over the last 50 years. As the Chairman of Capital Investment Group and a member of Goldman Sachs' International Board of Advisors, Curran has chaired or been a director of several public companies. He has also held leadership roles in many community organizations, including as Chairman of the Garvan Institute of Medical Research and St Vincent's Hospital Sydney.
Professor Yoshihide Hayashizaki, Program Director, Preventative Medicine and Diagnosis Innovation
Program, RIKEN, Japan. http://www.garvan.org.au/news-events/leaders-in-science-and-society
Peter Vogt, a professor at The Scripps Research Institute, will give a lecture titled "MYC and the Non-coding Transcriptome" at the Garvan Institute of Medical Research on November 9, 2015. Vogt was trained as a virologist in Germany and California and his work focuses on retroviral replication, viral and cellular oncogenes, and identifying inhibitors of oncoproteins. He has held faculty positions at several universities and is currently a professor at The Scripps Research Institute studying MYC and non-coding RNA transcripts.
Professor Rob Parton - Institute for Molecular Bioscience
University of Queensland. http://www.garvan.org.au/news-events/leaders-in-science-and-society
Professor Carolyn Sue, Professor University of Sydney / Director of the Department of Neurogenetics at Royal North Shore Hospital / Director of the National Centre for Adult Stem Cell Research (Sydney Node). http://www.garvan.org.au/news-events/leaders-in-science-and-society
Professor Joe Trapani, Executive Director Cancer Research,
Peter MacCallum Cancer Centre, Melbourne. http://www.garvan.org.au/news-events/leaders-in-science-and-society
Are you looking for a long-lasting solution to your missing tooth?
Dental implants are the most common type of method for replacing the missing tooth. Unlike dentures or bridges, implants are surgically placed in the jawbone. In layman’s terms, a dental implant is similar to the natural root of the tooth. It offers a stable foundation for the artificial tooth giving it the look, feel, and function similar to the natural tooth.
The skin is the largest organ and its health plays a vital role among the other sense organs. The skin concerns like acne breakout, psoriasis, or anything similar along the lines, finding a qualified and experienced dermatologist becomes paramount.
These lecture slides, by Dr Sidra Arshad, offer a simplified look into the mechanisms involved in the regulation of respiration:
Learning objectives:
1. Describe the organisation of respiratory center
2. Describe the nervous control of inspiration and respiratory rhythm
3. Describe the functions of the dorsal and respiratory groups of neurons
4. Describe the influences of the Pneumotaxic and Apneustic centers
5. Explain the role of Hering-Breur inflation reflex in regulation of inspiration
6. Explain the role of central chemoreceptors in regulation of respiration
7. Explain the role of peripheral chemoreceptors in regulation of respiration
8. Explain the regulation of respiration during exercise
9. Integrate the respiratory regulatory mechanisms
10. Describe the Cheyne-Stokes breathing
Study Resources:
1. Chapter 42, Guyton and Hall Textbook of Medical Physiology, 14th edition
2. Chapter 36, Ganong’s Review of Medical Physiology, 26th edition
3. Chapter 13, Human Physiology by Lauralee Sherwood, 9th edition
Osteoporosis - Definition , Evaluation and Management .pdfJim Jacob Roy
Osteoporosis is an increasing cause of morbidity among the elderly.
In this document , a brief outline of osteoporosis is given , including the risk factors of osteoporosis fractures , the indications for testing bone mineral density and the management of osteoporosis
Lecture 6 -- Memory 2015.pptlearning occurs when a stimulus (unconditioned st...AyushGadhvi1
learning occurs when a stimulus (unconditioned stimulus) eliciting a response (unconditioned response) • is paired with another stimulus (conditioned stimulus)
low birth weight presentation. Low birth weight (LBW) infant is defined as the one whose birth weight is less than 2500g irrespective of their gestational age. Premature birth and low birth weight(LBW) is still a serious problem in newborn. Causing high morbidity and mortality rate worldwide. The nursing care provide to low birth weight babies is crucial in promoting their overall health and development. Through careful assessment, diagnosis,, planning, and evaluation plays a vital role in ensuring these vulnerable infants receive the specialize care they need. In India every third of the infant weight less than 2500g.
Birth period, socioeconomical status, nutritional and intrauterine environment are the factors influencing low birth weight
Promoting Wellbeing - Applied Social Psychology - Psychology SuperNotesPsychoTech Services
A proprietary approach developed by bringing together the best of learning theories from Psychology, design principles from the world of visualization, and pedagogical methods from over a decade of training experience, that enables you to: Learn better, faster!
Travel Clinic Cardiff: Health Advice for International TravelersNX Healthcare
Travel Clinic Cardiff offers comprehensive travel health services, including vaccinations, travel advice, and preventive care for international travelers. Our expert team ensures you are well-prepared and protected for your journey, providing personalized consultations tailored to your destination. Conveniently located in Cardiff, we help you travel with confidence and peace of mind. Visit us: www.nxhealthcare.co.uk
Co-Chairs, Val J. Lowe, MD, and Cyrus A. Raji, MD, PhD, prepared useful Practice Aids pertaining to Alzheimer’s disease for this CME/AAPA activity titled “Alzheimer’s Disease Case Conference: Gearing Up for the Expanding Role of Neuroradiology in Diagnosis and Treatment.” For the full presentation, downloadable Practice Aids, and complete CME/AAPA information, and to apply for credit, please visit us at https://bit.ly/3PvVY25. CME/AAPA credit will be available until June 28, 2025.
Cell Therapy Expansion and Challenges in Autoimmune DiseaseHealth Advances
There is increasing confidence that cell therapies will soon play a role in the treatment of autoimmune disorders, but the extent of this impact remains to be seen. Early readouts on autologous CAR-Ts in lupus are encouraging, but manufacturing and cost limitations are likely to restrict access to highly refractory patients. Allogeneic CAR-Ts have the potential to broaden access to earlier lines of treatment due to their inherent cost benefits, however they will need to demonstrate comparable or improved efficacy to established modalities.
In addition to infrastructure and capacity constraints, CAR-Ts face a very different risk-benefit dynamic in autoimmune compared to oncology, highlighting the need for tolerable therapies with low adverse event risk. CAR-NK and Treg-based therapies are also being developed in certain autoimmune disorders and may demonstrate favorable safety profiles. Several novel non-cell therapies such as bispecific antibodies, nanobodies, and RNAi drugs, may also offer future alternative competitive solutions with variable value propositions.
Widespread adoption of cell therapies will not only require strong efficacy and safety data, but also adapted pricing and access strategies. At oncology-based price points, CAR-Ts are unlikely to achieve broad market access in autoimmune disorders, with eligible patient populations that are potentially orders of magnitude greater than the number of currently addressable cancer patients. Developers have made strides towards reducing cell therapy COGS while improving manufacturing efficiency, but payors will inevitably restrict access until more sustainable pricing is achieved.
Despite these headwinds, industry leaders and investors remain confident that cell therapies are poised to address significant unmet need in patients suffering from autoimmune disorders. However, the extent of this impact on the treatment landscape remains to be seen, as the industry rapidly approaches an inflection point.
Know the difference between Endodontics and Orthodontics.Gokuldas Hospital
Your smile is beautiful.
Let’s be honest. Maintaining that beautiful smile is not an easy task. It is more than brushing and flossing. Sometimes, you might encounter dental issues that need special dental care. These issues can range anywhere from misalignment of the jaw to pain in the root of teeth.
DECLARATION OF HELSINKI - History and principlesanaghabharat01
This SlideShare presentation provides a comprehensive overview of the Declaration of Helsinki, a foundational document outlining ethical guidelines for conducting medical research involving human subjects.
How to Control Your Asthma Tips by gokuldas hospital.Gokuldas Hospital
Respiratory issues like asthma are the most sensitive issue that is affecting millions worldwide. It hampers the daily activities leaving the body tired and breathless.
The key to a good grip on asthma is proper knowledge and management strategies. Understanding the patient-specific symptoms and carving out an effective treatment likewise is the best way to keep asthma under control.
Histololgy of Female Reproductive System.pptxAyeshaZaid1
Dive into an in-depth exploration of the histological structure of female reproductive system with this comprehensive lecture. Presented by Dr. Ayesha Irfan, Assistant Professor of Anatomy, this presentation covers the Gross anatomy and functional histology of the female reproductive organs. Ideal for students, educators, and anyone interested in medical science, this lecture provides clear explanations, detailed diagrams, and valuable insights into female reproductive system. Enhance your knowledge and understanding of this essential aspect of human biology.
1. Feature story: “Junk” DNA and
the human genome
Did you know that if the DNA of one cell were stretched end to end it would
reach nearly two metres in length? Every one of us has a unique, slightly different
sequence of 3 billion DNA units (or letters) in long double helix strands. These
strands of DNA are tightly coiled into the nucleus of the cell in structures called
chromosomes. The genome is our complete set of DNA. A gene is a section of
DNA that encodes the instructions for the cell to make proteins. When a gene
is activated it is copied to make a different but related molecule called RNA,
which transports the instructions to be translated into the amino acids that build
proteins. This was the understanding for most of the 20th
century.
The massive Human Genome Project
(1990 – 2003) not only found that we
had approximately the same number
of conventional genes as the humble
C. elegans nematode worm — the first
multicellular organism to have its genome
completely sequenced — but that most
of the human genome (about 98%-99%)
appeared to code for nothing much at all.
“Because only a tiny fraction — around
1.5% — of the human genome encodes
proteins, the rest of it was assumed to be
junk,” explains Professor John Mattick,
Garvan’s Executive Director. Professor
Mattick was a postdoctoral researcher in
the late 1970s when he started mulling
over the mystery of why complex
organisms had so much non-coding DNA.
“I realised that not only did these non-
protein-coding sections produce RNA,
but if those RNAs were functional,
it would mean that there was another
type of information being expressed
from our genome, and that the genetic
system in humans was much more
sophisticated than we expected,”
explains Professor Mattick.
“We now realise that the genome is
extraordinarily complex, and the deeper
we drill down, the more surprises we
find. Indeed, what was dismissed as
junk because it was not understood
almost certainly holds the secret to
understanding human development
and human cognition. It is also likely to
hold the secret to understanding many
complex diseases.”
It seems that Professor Mattick was
right, and the long tracts of our genome
lying within and between the genes are
important after all.
For example, short segments of non-
coding DNA are used to produce RNA
known as microRNAs which rather than
creating proteins, target and break
down other RNA molecules. And long
segments of non-coding RNAs (long
non-coding RNAs, or IncRNAs) play roles
in regulating how genes are switched on
and off. Interestingly, vast non-coding
tracts of DNA are made up of viruses
that once randomly inserted themselves
in our genome, often many hundreds of
generations ago.
Long non-coding RNA and schizophrenia
Researchers at Garvan are now turning
their attention to the specific roles that
non-coding RNA plays in health and
disease. Earlier this year, the Mattick
lab, in collaboration with groups from
Queensland, Japan and the US, found
that non-coding RNAs may play a role
in schizophrenia.
The particular lncRNA involved in
schizophrenia is called ‘Gomafu’, and it
is regulated by the changing patterns
of neuronal electrical activity. Gomafu’s
job is to alter the expression of proteins
in neurons. When neurons in the brain
are activated, Gomafu levels drop
dramatically. Professor Mattick’s team
found that levels of Gomafu were
abnormally low in the post-mortem brains
of people with schizophrenia.
“You can imagine that if the schizophrenic
brain is firing differently – and Gomafu
levels are consistently lower – it would
cause havoc within the cell, with all sorts
of genes and proteins free floating and
available to act, whereas in a normal brain
they would be tethered to Gomafu,” says
Dr Barry, one of the collaborators.
Professor Mattick adds, “Knowing now
that long non-coding RNAs are regulated
by neuronal activity and associated with
schizophrenia gives us insight into the
cause of the disease and new pathways
to treatment in the future.”
MicroRNA and cancer therapy
Non-coding RNAs also play a role in the
development of cancer, says Dr Alex
Swarbrick who heads the Garvan Cancer
Program’s Tumour Progression Group.
Dr Swarbrick and his team found one
particular non-coding RNA known as
microRNA 380 to be produced at high
levels in the aggressive childhood cancer
neuroblastoma, in a proportion of adult
brain cancers and in melanoma. In many
cancer types, a critical tumour suppressor
known as P53 is disabled by genetic
mutation. However, Dr Swarbrick’s
team found that in neuroblastoma,
P53 is instead disabled by the action
of microRNA 380. When they blocked
microRNA 380 in the laboratory, P53
was reactivated, cancer cells died and
experimental tumours became much
smaller. “We’ve shown if we can block
the microRNA we also greatly inhibit
the ability of those tumours to grow and
multiply,” explains Dr Swarbrick.
Earlier this year, Dr Swarbrick, Professor
Mattick and a large team of international
researchers found that microRNAs are
key regulators of tumour angiogenesis
— a process by which new blood vessels
are recruited to feed the growing tumour.
The team was able to show that targeting
specific microRNAs prevented new blood
vessel formation and slowed tumour
growth, a finding that may eventually be
translated to the clinic.
Whole genome sequencing
The advent of whole genome
sequencing heralds the next chapter
in the story of our understanding of
human genetics and its role in health
and disease, or ‘genomic medicine’.
Whole genome sequencing is a
laboratory technique that reads
the complete DNA sequence of an
individual’s genome — it includes
both the coding (known genes) and
non-coding sequences.
Knowing the complete DNA sequence
of an individual’s genome does not,
on its own, provide useful clinical
information, but this may change
over time, explains Dr Marcel Dinger,
head of the new Centre for Clinical
Genomics, who has also identified
important lncRNAs in melanoma
and breast cancer. “With genome
sequencing you capture a lot of
information for free. The information
you return to the patient is what is
clinically interpretable at that time, for
example, mutations in genes involved
in disease or genes that interact with
particular drugs. The remainder of
the sequences from the non-coding
parts of the genome, which we don’t
yet understand, we then return to
the researchers. This information is of
huge value to research.”
Whole genome sequencing and
osteoporosis
Whole genome sequencing techniques
and bioinformatics (the analysis of the
extremely complicated biological data
generated by the sequencing) will
be used in a study by Professor John
Eisman and his team in Garvan’s Bone
Research Program. The team run the
Dubbo Osteoporosis Epidemiology
Study (DOES), which began in the
late 1980s, and is the longest running,
large-scale epidemiological study of
osteoporosis in men and women in
the world. It focuses on identifying risk
factors for fractures in both men and
women as well as identifying
new genes that are important to
bone health.
This particular study aims to look at
genetic data from people enrolled
in the DOES who have a high bone
density. Using the very latest in
technology, the team will perform
whole genome sequencing with the
objective of identifying the genes
that are implicated in high bone mass.
Identifying the genes involved in high
bone mass may point towards what
is going wrong in individuals with
osteoporosis (i.e. low bone mass).
Once this is complete, analysis of
the information will commence, and
Garvan researchers will add another
new chapter to the ever evolving
human genome story.
Ask Garvan
What is the Centre for Clinical
Genomics?
Led by Dr Marcel Dinger, Head of
Genome Informatics, the Centre
for Clinical Genomics (CCG) will be
Australia’s first accredited facility
providing both research and clinical
services for cancer and other complex
diseases. Using a whole genome
approach, clinicians and researchers
will be able to look at various aspects
of disease: diagnosis, susceptibility,
predictive signs and how individuals
may react to specific drug treatments.
Already operating on a research basis,
and housed at The Kinghorn Cancer
Centre (TKCC), the centre will shortly
receive clinical accreditation and begin
testing patient samples.
What type of equipment is used at
the Centre for Clinical Genomics?
Scientists at the CCG will use multi-
million dollar next-generation sequencing
equipment. The equipment allows the
whole genome to be sequenced in one
day using DNA extracted from a patient’s
blood or tissue sample. Complex data
analysis is then carried out on the
genome sequence.
What are the plans for the Centre in
the future?
The establishment of the CCG is an
exciting development for Garvan and
TKCC and will form a platform for the
rapid development of genomic medicine,
placing Garvan and TKCC at the frontier
of personalised, integrative medicine.
Nucleosomes: DNA
wrapped around a
protein complex
Chromosome
RNADNA
Strands
Cell
Nucleus
Preparing fragmented DNA using magnetic beads
for next generation sequencing at the Centre for
Clinical Genomics.
5breakthrough 50th Anniversary