"From the Chromosome...Everything". My Inaugural Lecture at the Blizard Institute, Barts & The London School of Medicine & Dentistry, Queen Mary University of London. 10th May 2010.
DNA SEQUENCING Shashi kala.prasentationSHASHIKALA81
The document discusses DNA sequencing and its importance. It begins with defining DNA and describing its structure and discovery. It then explains how DNA sequencing works, including the Sanger sequencing method. The key points made are:
1. DNA sequencing determines the order of nucleotides in DNA and has helped accelerate biological research.
2. Sanger sequencing uses dideoxynucleotides to terminate DNA synthesis at different positions, producing fragments of different lengths that can be read to determine the sequence.
3. Knowing DNA sequences helps determine protein functions, aids medical diagnosis and research, and allows comparison of healthy and mutated DNA. This knowledge is important for identifying diseases like cancer and viruses.
Daniel Mejía Arrieta Mutation in DNA ReplicationDaniel Mejia
The document discusses DNA replication and mutation. It notes that DNA encodes genetic information and small changes during replication can cause mutations, altering protein function and potentially health. DNA breakage at fragile sites can lead to lost genetic information and potential cancerous cell proliferation as cells try to replace DNA for daughter cells. The document also discusses how mice have evolved resistance to common poisons through a vitamin K-related gene mutation providing an adaptive advantage. Medical applications of understanding DNA replication and mutation are also mentioned, like detection of abnormalities for prevention and potential future control of induced mutations for improved health outcomes.
The document summarizes the structure of DNA. It discusses that DNA is found in organisms and stores genetic information that tells cells which proteins to make. It also mentions that eukaryotes store DNA in the nucleus and organelles, while prokaryotes store it in the cytoplasm. Furthermore, it describes how Watson and Crick proposed the double helical structure of DNA in 1953 based on evidence from Rosalind Franklin and Maurice Wilkins' X-ray diffraction data and Erwin Chargaff's observations of DNA composition in different organisms.
The distinctive character of modern biology is the study of biology as information. Merging of biology and information sciences is a fundamental drive in biomedicine. Indeed, the post-genomic era is providing a huge of amount of molecular data, pertaining to different levels of evidence, which requires specific expertise in raw data processing, explorative data analysis and systems biology.
Translational genomics relies on our ability to recognize the functional elements of the genome and to disentangle the complexity of their interactions, starting from the sequence and following its implications in transcriptomics, proteomics, metabolomics, epigenomics. The promise of genomic medicine is improved diagnosis and treatment through the application of genomic information and technologies, leading to precision medicine.
This talk will give an overview of computational genomics and its current challenges.
its my university task to make a assignment on the brief history of molecular biology i am sure i done it quite well by linking all the information to molecular
The study of Gregor Mandel put the basis for the advancement in science. Then discovery of nucleic acid allowed researchers to see things in different perspective. Later Kary Mullis provided with the major break through by inventing PCR.
Single Nucleotide Polymorphism (SNP)
Polymorphism is a generic term that means 'many shapes‘. It is the ability to appsear in different form .
A single nucleotide polymorphism (SNP) is a DNA sequence variation occurring when a single nucleotide - A, T, C, or G - in the genome differs between members of a species (or between paired chromosomes in an individual).
For example, two sequenced DNA fragments from different individuals, AAGCCTA to AAGCTTA, contain a difference in a single nucleotide. For a variation to be considered a SNP, it must occur in at least 1% of the population.
CHARACTERISTICS OF SNP
• In human beings, 99.9 percent bases are same.
• Remaining 0.1 percent makes a person unique.
• Different attributes / characteristics / traits
• How a person looks, diseases he or she develops.
These variations can be:
Harmless (change in phenotype)
Harmful (diabetes, cancer, heart disease, Huntington's disease, and hemophilia )
Latent (variations found in coding and regulatory regions, are not harmful on their own, and the change in each gene only becomes apparent under certain conditions e.g. susceptibility to lung cancer)
TYPES OF SNP
NON-CODING REGION
A segment of DNA that does comprise a gene and thus does not code for a protein .
CODING REGION
Regions of DNA/RNA sequences that code for proteins
Synonymous
A SNP in which both forms lead to the same polypeptide sequence is termed synonymous
(sometimes called a silent mutation).
Non synonymous
If a different polypeptide sequence is produced they are non synonymous . A non synonymous change may either be missense or nonsense, where a missense change results in a different amino acid, while a nonsense change results in a premature stop codon.
SNP Applications
• Gene discovery and mapping
• Association-based candidate polymorphism testing
• Diagnostics/risk profiling
• Response prediction
• Homogeneity testing/study design
• Gene function identification
This document discusses the central dogma of biology, which states that DNA is transcribed into RNA, which is then translated into protein. It describes the structures of DNA and RNA, the genetic code by which codons correspond to amino acids, and types of genetic alterations like mutations and chromosomal abnormalities. Mutations can be germline or somatic, and include substitutions, insertions, deletions, and frameshift mutations. Single nucleotide polymorphisms are also discussed.
DNA SEQUENCING Shashi kala.prasentationSHASHIKALA81
The document discusses DNA sequencing and its importance. It begins with defining DNA and describing its structure and discovery. It then explains how DNA sequencing works, including the Sanger sequencing method. The key points made are:
1. DNA sequencing determines the order of nucleotides in DNA and has helped accelerate biological research.
2. Sanger sequencing uses dideoxynucleotides to terminate DNA synthesis at different positions, producing fragments of different lengths that can be read to determine the sequence.
3. Knowing DNA sequences helps determine protein functions, aids medical diagnosis and research, and allows comparison of healthy and mutated DNA. This knowledge is important for identifying diseases like cancer and viruses.
Daniel Mejía Arrieta Mutation in DNA ReplicationDaniel Mejia
The document discusses DNA replication and mutation. It notes that DNA encodes genetic information and small changes during replication can cause mutations, altering protein function and potentially health. DNA breakage at fragile sites can lead to lost genetic information and potential cancerous cell proliferation as cells try to replace DNA for daughter cells. The document also discusses how mice have evolved resistance to common poisons through a vitamin K-related gene mutation providing an adaptive advantage. Medical applications of understanding DNA replication and mutation are also mentioned, like detection of abnormalities for prevention and potential future control of induced mutations for improved health outcomes.
The document summarizes the structure of DNA. It discusses that DNA is found in organisms and stores genetic information that tells cells which proteins to make. It also mentions that eukaryotes store DNA in the nucleus and organelles, while prokaryotes store it in the cytoplasm. Furthermore, it describes how Watson and Crick proposed the double helical structure of DNA in 1953 based on evidence from Rosalind Franklin and Maurice Wilkins' X-ray diffraction data and Erwin Chargaff's observations of DNA composition in different organisms.
The distinctive character of modern biology is the study of biology as information. Merging of biology and information sciences is a fundamental drive in biomedicine. Indeed, the post-genomic era is providing a huge of amount of molecular data, pertaining to different levels of evidence, which requires specific expertise in raw data processing, explorative data analysis and systems biology.
Translational genomics relies on our ability to recognize the functional elements of the genome and to disentangle the complexity of their interactions, starting from the sequence and following its implications in transcriptomics, proteomics, metabolomics, epigenomics. The promise of genomic medicine is improved diagnosis and treatment through the application of genomic information and technologies, leading to precision medicine.
This talk will give an overview of computational genomics and its current challenges.
its my university task to make a assignment on the brief history of molecular biology i am sure i done it quite well by linking all the information to molecular
The study of Gregor Mandel put the basis for the advancement in science. Then discovery of nucleic acid allowed researchers to see things in different perspective. Later Kary Mullis provided with the major break through by inventing PCR.
Single Nucleotide Polymorphism (SNP)
Polymorphism is a generic term that means 'many shapes‘. It is the ability to appsear in different form .
A single nucleotide polymorphism (SNP) is a DNA sequence variation occurring when a single nucleotide - A, T, C, or G - in the genome differs between members of a species (or between paired chromosomes in an individual).
For example, two sequenced DNA fragments from different individuals, AAGCCTA to AAGCTTA, contain a difference in a single nucleotide. For a variation to be considered a SNP, it must occur in at least 1% of the population.
CHARACTERISTICS OF SNP
• In human beings, 99.9 percent bases are same.
• Remaining 0.1 percent makes a person unique.
• Different attributes / characteristics / traits
• How a person looks, diseases he or she develops.
These variations can be:
Harmless (change in phenotype)
Harmful (diabetes, cancer, heart disease, Huntington's disease, and hemophilia )
Latent (variations found in coding and regulatory regions, are not harmful on their own, and the change in each gene only becomes apparent under certain conditions e.g. susceptibility to lung cancer)
TYPES OF SNP
NON-CODING REGION
A segment of DNA that does comprise a gene and thus does not code for a protein .
CODING REGION
Regions of DNA/RNA sequences that code for proteins
Synonymous
A SNP in which both forms lead to the same polypeptide sequence is termed synonymous
(sometimes called a silent mutation).
Non synonymous
If a different polypeptide sequence is produced they are non synonymous . A non synonymous change may either be missense or nonsense, where a missense change results in a different amino acid, while a nonsense change results in a premature stop codon.
SNP Applications
• Gene discovery and mapping
• Association-based candidate polymorphism testing
• Diagnostics/risk profiling
• Response prediction
• Homogeneity testing/study design
• Gene function identification
This document discusses the central dogma of biology, which states that DNA is transcribed into RNA, which is then translated into protein. It describes the structures of DNA and RNA, the genetic code by which codons correspond to amino acids, and types of genetic alterations like mutations and chromosomal abnormalities. Mutations can be germline or somatic, and include substitutions, insertions, deletions, and frameshift mutations. Single nucleotide polymorphisms are also discussed.
B.sc. agri i pog unit 1 introduction to geneticsRai University
The document provides an overview of genetics principles including:
1) DNA serves as the repository for genetic information in cells and replicates through a complex process to minimize errors. The flow of information goes from DNA to RNA to protein.
2) Early experiments by Griffith, Avery, MacLeod, and McCarty demonstrated that DNA carries genetic information by showing it was responsible for bacterial transformation. Further work by Hershey and Chase using bacteriophage showed that viral DNA, not protein, entered host cells to direct new virus production.
3) The relationships between DNA, RNA, and protein were established as the central dogma of molecular biology, where DNA is transcribed into RNA which is then translated into protein
This document summarizes research on mechanisms for repairing damaged DNA, including non-homologous end joining and homologous recombination. It discusses how enzymes act to replace lost DNA information before joining, and how further research on these enzymes may help prevent diseases like cancer via gene therapy. The document also discusses how the p53 tumor suppressor protein prevents genome mutation, and research showing statins may help prevent damage caused by mutated p53 and prevent its destruction by enzymes. Statins are said to have potential benefits for treating cancer by preventing chemotherapy resistance and metastasis. Overall, further research on DNA repair mechanisms and related proteins is said to lead to improved control of diseases through prevention, detection and treatment approaches.
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
Single nucleotide polymorphisms (SNPs) are variations in single nucleotides that occur at specific positions in the genome. For example, the base C may appear in most individuals at a specific position, but in some individuals the position is occupied by base A, representing a SNP. SNPs can be classified as synonymous or nonsynonymous depending on whether they change the amino acid sequence. Common human diseases like sickle cell anemia and cystic fibrosis result from SNPs. SNPs can be identified and analyzed using methods like DNA sequencing, mass spectrometry, and primer extension.
The document summarizes research on retinal stem cells in the Japanese rice fish model. Researchers transplanted fluorescent protein-labeled retinal stem cells into host blastulae and observed that the stem cells gave rise to all three major retinal layers, indicating their multipotency. Further experiments using multicolor transgenic fish lines confirmed that arched continuous stripes in the retina arose from single retinal stem cells. Additional work showed that post-embryonic retinal stem cells also retained multipotency and could generate all retinal cell types, demonstrating that developmental progression does not affect this potential of retinal stem cells. The researchers concluded that retinal stem cells are multipotent and can develop into all neural retina layers throughout development.
The document discusses the key components and structures of DNA and RNA. It describes DNA as containing the genetic material that is inherited and determines traits, and that it has a double helix structure. RNA is composed of different types that have various functions and is involved in protein synthesis. The double helix model of DNA was discovered in 1953 by James Watson and Francis Crick based on prior research by Rosalind Franklin using X-ray diffraction methods.
This power point presentation is an attempt to present some direct and some indirect evidences in favour of DNA as genetic material. Very few organisms have RNA as genetic material for example plant virus and some bacteriophages
In this paper, we briefly reviewed the numbers in life from a statistical genetic approach. The human genome comprises of 6 billion chemical bases of DNA. The DNA encodes 30,000 genes. It consists of two parts; the nuclear genome; which consists of 3,200,000,000 nucleotides of DNA, divided into 24 linear molecules, the shortest 50,000,000 nucleotides in length and the longest 260,000,000 nucleotides, each contained in a different chromosome and the mitochondrial genome; which contains approximately 16,600 base pairs encoding 37 genes. Most human cells have 46 chromosomes. However, the number of chromosomes in the nuclei of a person with Down syndrome is 47. The DNA of any two people on Earth is 99.6 percent identical, the 0.4 percent variation represents about 20 million base pairs. Almost all 98 percent of the human DNA is noncoding, while in bacteria, only 2% of the genetic material does not code for anything.
Neuronal and glial differentiation of human pluripotent stem cellsDiana Santos
This document summarizes research on differentiating human pluripotent stem cells into neuronal and glial cells. It discusses protocols for generating several neural cell types, including dopaminergic neurons, motor neurons, GABAergic neurons, cholinergic neurons, retinal cells, and oligodendrocytes. These differentiation techniques aim to provide functional cells for applications in disease modeling, drug discovery, and regenerative medicine for conditions like Parkinson's, ALS, retinal degeneration, and multiple sclerosis. However, improving differentiation efficiency and safety is still needed, especially for induced pluripotent stem cells.
The document discusses genetic polymorphisms in Plasmodium falciparum, the parasite that causes malaria. It defines key terms like locus, allele, and genome. It then describes different types of genetic polymorphisms like single nucleotide polymorphisms (SNPs), insertions and deletions (INDELs), and short tandem repeats (STRs). The document focuses on polymorphisms related to drug resistance in P. falciparum, discussing genes associated with resistance to chloroquine (pfcrt) and other antimalarial drugs, along with specific mutations in those genes linked to resistance.
Annotated bibliographies for wordpressnicollearosa
1) The document discusses three annotated bibliographies about research on the effects of UV radiation on DNA and plant/human cells.
2) The first study shows that UVB radiation can induce DNA damage in plants that helps them develop resistance to pathogens. The second study examines how DNA damage response proteins accumulate in cells defective in DNA repair after UV exposure.
3) The third study investigates how UV-induced DNA lesions like CPDs can form clusters of cells that may lead to skin cancer, and suggests clusters of p53-overexpressing cells originate from CRBCs activated by low-level UV radiation.
This document summarizes a senior thesis that aims to identify cis-acting regulatory elements upstream of the gene encoding CRD-BP, an mRNA binding protein normally expressed in fetal tissue but expressed in many cancers. The student cloned different sized sequences of DNA upstream of the mouse CRD-BP gene into a luciferase expression vector. Transfecting these clones into mammalian cells and measuring luciferase activity will allow them to assay the sequences for regulatory element activity and identify how CRD-BP expression is regulated.
The term DNA Finger printing is also known as DNA Typing, Genetic Profiling or Genotyping, it is a process in which the DNA characteristics of a person is determined by isolating and identifying variable elements in the base-pair sequence of DNA.
By developing this method in 1984 the British geneticist Alec Jeffery found that some sequence area unit extremely variable Deoxyribonucleic acid called as minisatellites. These minisatellites do not have contribution in functioning of DNA and are repeated in the genes. Geneticist found that in every person there is a unique pattern of these minisatellites except the identical twins.
Presentation made by Jernej Ule on the 20th of April, 2017, at the live webinar hosted by Alzforum: http://www.alzforum.org/webinars/webinar-cortex-aging-too-fast-blame-tmem106b-and-progranulin
Hairy research: Can hair tell the story about your health?Firhan Malik
This document outlines a proposed thesis on analyzing metal exposure through hair samples. It discusses the roles of various metals like iron, zinc, arsenic, and nickel in the body. Zinc is important for immune function and deficiency can increase apoptosis of immune cells. Arsenic and nickel are carcinogenic and can negatively impact the immune system. Nickel specifically can activate genes like HIF-1 that promote tumor growth. The document proposes using hair samples to measure long-term metal exposure in people, as hair levels reflect chronic intake over months to years. Factors like hair color and sex can influence metal content measured in hair.
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.
Transmissible spongiform encephalopathies (TSEs) are a group of fatal neurodegenerative disorders caused by prions. Prions are abnormally folded forms of a normal cellular protein that are highly resistant to destruction and can transmit their abnormal shape to other normal proteins. TSEs affect both humans and animals. Some examples include Creutzfeldt-Jakob disease (CJD) in humans, bovine spongiform encephalopathy (BSE, or "mad cow disease") in cattle, and chronic wasting disease in deer. Prion diseases have long incubation periods, are always fatal, and currently have no treatment or cure.
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,
Epigenetics studies heritable changes in phenotype that do not involve changes to DNA sequence. Epigenetic modifications include chemical changes to DNA and histones that regulate gene expression. DNA methylation permanently silences genes by marking promoters, while histone modifications transiently activate or repress genes depending on the location and type of modification. During cell differentiation, epigenetic marks program cell identity by silencing irrelevant genes through DNA and histone methylation, while activating cell-specific genes using histone acetylation and phosphorylation. The heritability of these epigenetic marks allows cell types to maintain their gene expression programs over generations.
This document discusses the history and advancements in preimplantation genetic diagnosis (PGD) over the past 20 years. Key developments include using single cell biopsy and analysis to test embryos for genetic defects prior to implantation. Current techniques allow for screening of aneuploidies, single gene defects, translocations, and other chromosomal abnormalities through methods like array comparative genomic hybridization and single nucleotide polymorphism genotyping and mapping. These techniques provide improved detection capabilities over previous PGD methods and allow for more comprehensive genetic assessment of embryos.
CONFERENCE
ON
Multiple Hereditary Exostoses
Insights Into Pathogenesis
November 3-5, 2005
Shriners Hospital of Houston
6977 Main Street
Houston, Texas
and the
Houston Marriott Medical Center
6580 Fannin Street
Houston, Texas
Sponsored By:
The Shriners Hospital
The National Institutes of Health
American Association of Enchondroma Diseases
March of Dimes Birth Defects Foundation
The Orthopaedic Research Society
The MHE Coalition
Gene Dx, DNA Diagnostic Services
The Mizutani Foundation for Glycoscience
Organizers: Dan Wells, Ph.D., Jacqueline Hecht, Ph.D., Sarah Ziegler
This document provides information about the Crafoord Prize Symposium on Cell Migration in Health and Disease held September 20-22, 2004 in Lund and Stockholm. The symposium featured talks on integrin cell adhesion molecules, leukocyte traffic control, interstitial fluid pressure and edema, neutrophil apoptosis, and cell adhesion and migration in tumor progression. It also introduces the 2004 Crafoord Laureates, Eugene Butcher and Timothy Springer, and their work elucidating the function of cell adhesion molecules in white blood cells and how they direct movement of cells into tissues, which is important for inflammation and immunity. Butcher's acceptance speech discusses his interest in science from a young age and how he became fascinated by how cells recognize and
B.sc. agri i pog unit 1 introduction to geneticsRai University
The document provides an overview of genetics principles including:
1) DNA serves as the repository for genetic information in cells and replicates through a complex process to minimize errors. The flow of information goes from DNA to RNA to protein.
2) Early experiments by Griffith, Avery, MacLeod, and McCarty demonstrated that DNA carries genetic information by showing it was responsible for bacterial transformation. Further work by Hershey and Chase using bacteriophage showed that viral DNA, not protein, entered host cells to direct new virus production.
3) The relationships between DNA, RNA, and protein were established as the central dogma of molecular biology, where DNA is transcribed into RNA which is then translated into protein
This document summarizes research on mechanisms for repairing damaged DNA, including non-homologous end joining and homologous recombination. It discusses how enzymes act to replace lost DNA information before joining, and how further research on these enzymes may help prevent diseases like cancer via gene therapy. The document also discusses how the p53 tumor suppressor protein prevents genome mutation, and research showing statins may help prevent damage caused by mutated p53 and prevent its destruction by enzymes. Statins are said to have potential benefits for treating cancer by preventing chemotherapy resistance and metastasis. Overall, further research on DNA repair mechanisms and related proteins is said to lead to improved control of diseases through prevention, detection and treatment approaches.
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
Single nucleotide polymorphisms (SNPs) are variations in single nucleotides that occur at specific positions in the genome. For example, the base C may appear in most individuals at a specific position, but in some individuals the position is occupied by base A, representing a SNP. SNPs can be classified as synonymous or nonsynonymous depending on whether they change the amino acid sequence. Common human diseases like sickle cell anemia and cystic fibrosis result from SNPs. SNPs can be identified and analyzed using methods like DNA sequencing, mass spectrometry, and primer extension.
The document summarizes research on retinal stem cells in the Japanese rice fish model. Researchers transplanted fluorescent protein-labeled retinal stem cells into host blastulae and observed that the stem cells gave rise to all three major retinal layers, indicating their multipotency. Further experiments using multicolor transgenic fish lines confirmed that arched continuous stripes in the retina arose from single retinal stem cells. Additional work showed that post-embryonic retinal stem cells also retained multipotency and could generate all retinal cell types, demonstrating that developmental progression does not affect this potential of retinal stem cells. The researchers concluded that retinal stem cells are multipotent and can develop into all neural retina layers throughout development.
The document discusses the key components and structures of DNA and RNA. It describes DNA as containing the genetic material that is inherited and determines traits, and that it has a double helix structure. RNA is composed of different types that have various functions and is involved in protein synthesis. The double helix model of DNA was discovered in 1953 by James Watson and Francis Crick based on prior research by Rosalind Franklin using X-ray diffraction methods.
This power point presentation is an attempt to present some direct and some indirect evidences in favour of DNA as genetic material. Very few organisms have RNA as genetic material for example plant virus and some bacteriophages
In this paper, we briefly reviewed the numbers in life from a statistical genetic approach. The human genome comprises of 6 billion chemical bases of DNA. The DNA encodes 30,000 genes. It consists of two parts; the nuclear genome; which consists of 3,200,000,000 nucleotides of DNA, divided into 24 linear molecules, the shortest 50,000,000 nucleotides in length and the longest 260,000,000 nucleotides, each contained in a different chromosome and the mitochondrial genome; which contains approximately 16,600 base pairs encoding 37 genes. Most human cells have 46 chromosomes. However, the number of chromosomes in the nuclei of a person with Down syndrome is 47. The DNA of any two people on Earth is 99.6 percent identical, the 0.4 percent variation represents about 20 million base pairs. Almost all 98 percent of the human DNA is noncoding, while in bacteria, only 2% of the genetic material does not code for anything.
Neuronal and glial differentiation of human pluripotent stem cellsDiana Santos
This document summarizes research on differentiating human pluripotent stem cells into neuronal and glial cells. It discusses protocols for generating several neural cell types, including dopaminergic neurons, motor neurons, GABAergic neurons, cholinergic neurons, retinal cells, and oligodendrocytes. These differentiation techniques aim to provide functional cells for applications in disease modeling, drug discovery, and regenerative medicine for conditions like Parkinson's, ALS, retinal degeneration, and multiple sclerosis. However, improving differentiation efficiency and safety is still needed, especially for induced pluripotent stem cells.
The document discusses genetic polymorphisms in Plasmodium falciparum, the parasite that causes malaria. It defines key terms like locus, allele, and genome. It then describes different types of genetic polymorphisms like single nucleotide polymorphisms (SNPs), insertions and deletions (INDELs), and short tandem repeats (STRs). The document focuses on polymorphisms related to drug resistance in P. falciparum, discussing genes associated with resistance to chloroquine (pfcrt) and other antimalarial drugs, along with specific mutations in those genes linked to resistance.
Annotated bibliographies for wordpressnicollearosa
1) The document discusses three annotated bibliographies about research on the effects of UV radiation on DNA and plant/human cells.
2) The first study shows that UVB radiation can induce DNA damage in plants that helps them develop resistance to pathogens. The second study examines how DNA damage response proteins accumulate in cells defective in DNA repair after UV exposure.
3) The third study investigates how UV-induced DNA lesions like CPDs can form clusters of cells that may lead to skin cancer, and suggests clusters of p53-overexpressing cells originate from CRBCs activated by low-level UV radiation.
This document summarizes a senior thesis that aims to identify cis-acting regulatory elements upstream of the gene encoding CRD-BP, an mRNA binding protein normally expressed in fetal tissue but expressed in many cancers. The student cloned different sized sequences of DNA upstream of the mouse CRD-BP gene into a luciferase expression vector. Transfecting these clones into mammalian cells and measuring luciferase activity will allow them to assay the sequences for regulatory element activity and identify how CRD-BP expression is regulated.
The term DNA Finger printing is also known as DNA Typing, Genetic Profiling or Genotyping, it is a process in which the DNA characteristics of a person is determined by isolating and identifying variable elements in the base-pair sequence of DNA.
By developing this method in 1984 the British geneticist Alec Jeffery found that some sequence area unit extremely variable Deoxyribonucleic acid called as minisatellites. These minisatellites do not have contribution in functioning of DNA and are repeated in the genes. Geneticist found that in every person there is a unique pattern of these minisatellites except the identical twins.
Presentation made by Jernej Ule on the 20th of April, 2017, at the live webinar hosted by Alzforum: http://www.alzforum.org/webinars/webinar-cortex-aging-too-fast-blame-tmem106b-and-progranulin
Hairy research: Can hair tell the story about your health?Firhan Malik
This document outlines a proposed thesis on analyzing metal exposure through hair samples. It discusses the roles of various metals like iron, zinc, arsenic, and nickel in the body. Zinc is important for immune function and deficiency can increase apoptosis of immune cells. Arsenic and nickel are carcinogenic and can negatively impact the immune system. Nickel specifically can activate genes like HIF-1 that promote tumor growth. The document proposes using hair samples to measure long-term metal exposure in people, as hair levels reflect chronic intake over months to years. Factors like hair color and sex can influence metal content measured in hair.
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.
Transmissible spongiform encephalopathies (TSEs) are a group of fatal neurodegenerative disorders caused by prions. Prions are abnormally folded forms of a normal cellular protein that are highly resistant to destruction and can transmit their abnormal shape to other normal proteins. TSEs affect both humans and animals. Some examples include Creutzfeldt-Jakob disease (CJD) in humans, bovine spongiform encephalopathy (BSE, or "mad cow disease") in cattle, and chronic wasting disease in deer. Prion diseases have long incubation periods, are always fatal, and currently have no treatment or cure.
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,
Epigenetics studies heritable changes in phenotype that do not involve changes to DNA sequence. Epigenetic modifications include chemical changes to DNA and histones that regulate gene expression. DNA methylation permanently silences genes by marking promoters, while histone modifications transiently activate or repress genes depending on the location and type of modification. During cell differentiation, epigenetic marks program cell identity by silencing irrelevant genes through DNA and histone methylation, while activating cell-specific genes using histone acetylation and phosphorylation. The heritability of these epigenetic marks allows cell types to maintain their gene expression programs over generations.
This document discusses the history and advancements in preimplantation genetic diagnosis (PGD) over the past 20 years. Key developments include using single cell biopsy and analysis to test embryos for genetic defects prior to implantation. Current techniques allow for screening of aneuploidies, single gene defects, translocations, and other chromosomal abnormalities through methods like array comparative genomic hybridization and single nucleotide polymorphism genotyping and mapping. These techniques provide improved detection capabilities over previous PGD methods and allow for more comprehensive genetic assessment of embryos.
CONFERENCE
ON
Multiple Hereditary Exostoses
Insights Into Pathogenesis
November 3-5, 2005
Shriners Hospital of Houston
6977 Main Street
Houston, Texas
and the
Houston Marriott Medical Center
6580 Fannin Street
Houston, Texas
Sponsored By:
The Shriners Hospital
The National Institutes of Health
American Association of Enchondroma Diseases
March of Dimes Birth Defects Foundation
The Orthopaedic Research Society
The MHE Coalition
Gene Dx, DNA Diagnostic Services
The Mizutani Foundation for Glycoscience
Organizers: Dan Wells, Ph.D., Jacqueline Hecht, Ph.D., Sarah Ziegler
This document provides information about the Crafoord Prize Symposium on Cell Migration in Health and Disease held September 20-22, 2004 in Lund and Stockholm. The symposium featured talks on integrin cell adhesion molecules, leukocyte traffic control, interstitial fluid pressure and edema, neutrophil apoptosis, and cell adhesion and migration in tumor progression. It also introduces the 2004 Crafoord Laureates, Eugene Butcher and Timothy Springer, and their work elucidating the function of cell adhesion molecules in white blood cells and how they direct movement of cells into tissues, which is important for inflammation and immunity. Butcher's acceptance speech discusses his interest in science from a young age and how he became fascinated by how cells recognize and
Alfred Knudson developed the two-hit hypothesis for cancer causation in 1971 to explain hereditary and non-hereditary retinoblastoma. The hypothesis proposed that cancer results from two mutations, with hereditary cancer requiring one mutation inherited in all cells and non-hereditary cancer requiring two spontaneous mutations. This anticipated the discovery of tumor suppressor genes. Later work extended the two-hit model to other childhood cancers and carcinomas. Currently, Knudson's research focuses on using knowledge of hereditary cancers to develop chemoprevention strategies by targeting early somatic events in high-risk individuals.
The document discusses several studies related to DNA and cancer. A study identified a gene, NFIB, that is overexpressed in mouse and human lung tumors and appears to drive progression of small cell lung cancer. Another study revealed the molecular mechanism that promotes cancer development by characterizing regions of DNA that are more susceptible to breakage in early cancer development. A third study identified the molecular basis for DNA breakage in cancer cells.
An Unusual Case of Secondary in Sphenoid Sinus from Carcinoma Prostate by George MV in Experiments in Rhinology & Otolaryngology
https://crimsonpublishers.com/ero/fulltext/ERO.000518.php
This document discusses DNA replication and the role of various enzymes in the process. It then summarizes two scientific articles about research on DNA breakage and cancer development. The first article describes research from Hebrew University scientists that identified the molecular basis for DNA breakage. The second discusses proteins called Cks1 and Cks2 that allow cancer development by overriding checkpoints during cell division. The document concludes that these discoveries may help develop new cancer treatments and prevention strategies by targeting these proteins or DNA breakage processes early in cancer development.
This document discusses DNA replication and the role of various enzymes in the process. It then summarizes two scientific articles about research on DNA breakage and cancer development. The first article describes research from Hebrew University scientists that identified the molecular basis for DNA breakage. The second discusses proteins called Cks1 and Cks2 that allow cancer development by overriding checkpoints during cell division. The document concludes that these discoveries may help develop new cancer treatments and prevention strategies by targeting these proteins or DNA breakage processes early in cancer development.
This document discusses DNA replication and the role of various enzymes in the process. It then summarizes two scientific articles about research on DNA breakage and cancer development. The first article describes research from Hebrew University scientists that identified the molecular basis for DNA breakage. The second discusses proteins called Cks1 and Cks2 that allow cancer development by overriding checkpoints during cell division. The document concludes that these discoveries may help develop new cancer treatments and prevention strategies by targeting these proteins or DNA breakage processes early in cancer development.
This document discusses DNA replication and the role of various enzymes in the process. It then summarizes two scientific articles about research on DNA breakage and cancer development. The first article describes research from Hebrew University scientists that identified the molecular basis for DNA breakage. The second discusses proteins called Cks1 and Cks2 that allow cancer development by overriding checkpoints during cell division. The document concludes that these discoveries may help develop new cancer treatments and prevention strategies by targeting these proteins or DNA breakage processes early in cancer development.
The documents discuss new research challenging the idea of the selfish gene, proposing that evolution is instead driven by the selfish ribosome. The ribosome contains the machinery for translating genetic information from DNA into proteins. Research suggests the ribosome was central to the origin of the first cell and its complex structure makes even minor mutations highly lethal for viruses. Studies of the central dogma of genetics and how life began are important for advancing medicine by providing new perspectives to approach genetic problems and find cures for diseases.
This document discusses several key concepts related to epigenetics and environmental influences on health. It begins with an overview of fetal programming, in which the environment during early development can influence cell differentiation through epigenetic changes. It then discusses developmental plasticity and how the same genome can result in different cell types based on environmental information processed epigenetically. The document also highlights the role of the environment in health, noting that many diseases have increased dramatically in recent decades and exploring possible environmental contributions, such as endocrine disrupting chemicals, heavy metals, and other pollutants that can influence the epigenome even at low levels. Overall, the document emphasizes that the epigenome acts as an interface between the environment and genome,
This document is a curriculum vitae for Emmanuel Dupont. It provides biographical information such as his date of birth, education history, employment history, research interests, teaching experience, and publications. His research has focused on gap junctions and their role in cell-to-cell communication, particularly in relation to the cardiovascular system.
https://netrf.org/pancreatic-nets
Neuroendocrine tumors that arise in the pancreas are called “pancreatic neuroendocrine tumors” or “islet cell
tumors.”
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.
1st International Conference Models of Human Diseases oral presentations abstracts feature recent findings in development or emplyment of various models of diseases to advance biomedical research.
The 16th Annual Scientific Meeting of the Society for Neuro-Oncology and AANS/CNS Section on Tumors was held November 17-20, 2011 in Orange County, CA. Over 1300 participants from 37 countries attended the four day meeting focused on the latest laboratory and clinical research in neuro-oncology. The meeting included education day sessions, morning and afternoon oral presentation sessions on various topics, keynote addresses, award presentations, and poster sessions to facilitate the multidisciplinary exchange of ideas. The successful annual meeting brought together neuro-oncologists, surgeons, pathologists, and other specialists to advance the research, diagnosis, care and treatment of brain tumors.
Kim Solez Transplant Pathology Regen Med 2015Kim Solez ,
Dr. Kim Solez presents Transplantation Pathology, Regenerative Medicine, and Where We Go From Here at the Nephrology Core Lecture Series on January 7th, 2015 at the University of Alberta in Edmonton, Canada. See https://www.youtube.com/watch?v=5wfdhB_VyJw
The document discusses several key points about stem cell research:
1. Stem cells have the potential to develop into any type of body cell and can be used to replace damaged or missing cells.
2. Sources of stem cells include discarded baby teeth, umbilical cord blood, and bone marrow, with each source having advantages and disadvantages.
3. While bone marrow collection may cause some pain, the benefits of stem cell therapies potentially include cures for conditions like Parkinson's, Alzheimer's, cancer, and heart disease.
This document is the inaugural lecture given by Prof. EEU Akang on the contributions of Ibadan, Nigeria to the development of pathology in the tropics. It summarizes that Ibadan played a pivotal role in establishing pathology as a clinical discipline in Nigeria and the tropics through the research and training conducted by pathologists over several decades. Key figures and their contributions mentioned include establishing the first departments of pathology, research on diseases prevalent in the region like Burkitt's lymphoma, and training many pathologists who would lead the field in Nigeria and internationally.
Genetic and Epigenetic Basis of Paediatric AstrocytomasDenise Sheer
This is a presentation I gave to the Winter Meeting of the Pathological Society, 7th Jan 2016, in a symposium on Molecular Pathology for Risk Stratification. The symposium was organised together with the British Neuropathological Society.
This document summarizes information on pediatric gliomas. It discusses how cancers arise from genetic and epigenetic aberrations, and outlines some of the major classes of cancer genes. It then focuses on pediatric brain tumors, noting that glioblastoma is a leading cause of cancer death in children. While the histology of pediatric glioblastoma is similar to the adult form, the molecular foundations differ. Specifically, pediatric glioblastomas often involve mutations in histone H3.3, ATRX, and DAXX. The document also summarizes key information on pediatric low-grade gliomas, molecular subgroups of pediatric high-grade gliomas, and opportunities for targeted therapies. It concludes by discussing the HeadSmart campaign in the
Neurological disorders arising from gene expression defectsDenise Sheer
The document discusses neurological disorders arising from defects in gene expression. It provides an overview of gene expression, including transcription, splicing, and translation. It describes how mutations at different stages of gene expression can cause severe neurological disorders. As examples, it summarizes Coffin-Lowry syndrome, which results from mutations in the RSK2 gene, and Rubinstein-Taybi syndrome, which is caused by mutations in the CBP or EP300 genes.
Genes in complex neurological disordersDenise Sheer
The document discusses approaches for identifying genes associated with neurological disorders. It describes several methods: linkage studies, homozygosity mapping, exome and whole genome sequencing, genome-wide association studies, detection of structural variation, and transcriptomics. Each method is summarized, with examples provided of neurological genes identified through various approaches such as exome sequencing. The human genome is also briefly described to provide context. In summary, the document outlines strategies for pinpointing genes underlying neurological conditions.
This document discusses common malignancies in children and embryonal tumors specifically. It outlines four main embryonal tumors - Wilms tumor, retinoblastoma, neuroblastoma, and medulloblastoma. For each tumor, it describes the clinical presentation, cellular origins based on embryonic development, molecular pathology including key genetic drivers, and current treatment approaches. It concludes by noting certain genetic predisposition syndromes can increase the risk of developing cancer in childhood.
Microhomology in Genomic Stuctural Variation - Diego Ottaviani, Magdalena Lec...Denise Sheer
THE ROLE OF MICROHOMOLOGY IN GENOMIC STRUCTURAL VARIATION, PUBLISHED IN TRENDS IN GENETICS, 2014.
OVERVIEW:Genomic structural variation, which can be defined as differences in the copy number, orientation, or location of relatively large DNA segments, is not only crucial in evolution, but also gives rise to genomic disorders. Whereas the major mechanisms that generate structural variation have been well characterised, insights into additional mechanisms are emerging from the identification of short regions of DNA sequence homology, also known as microhomology, at chromosomal breakpoints. In addition, functional studies are elucidating the characteristics of microhomology-mediated pathways, which are mutagenic. Here, we describe the features and mechanistic models of microhomology-mediated events, discuss their physiological and pathological significance, and highlight recent advances in this rapidly evolving field of research.
- Microhomology as a mutational signature
- Microhomology-mediated end joining (MMEJ)
- Replicative microhomology-mediated mechanisms
Fork stalling and template switching (FoSTeS)
Microhomology-mediated break-induced replication (MMBIR)
- Microhomology-mediated rearrangements in the germline
- Somatic microhomology-mediated rearrangements
Microhomology-mediated ligation in immune cells
Microhomology-mediated structural variation in cancer cells
FIGURES:
Figure 1. Microhomology at breakpoint junctions and flanking regions of simple gene fusions.
Figure 2. Nonhomologous end joining (NHEJ), homologous recombination (HR), and microhomology-mediated end joining (MMEJ).
Figure 3. Double-strand break (DSB) repair pathway choice.
Figure 4. Mechanistic model of fork stalling and template switching.
Figure 5. Mechanistic model of microhomology-mediated break-induced replication (MMBIR).
Figure. S1. Microhomology at breakpoint junctions of microdeletions of the FOXL2 gene or its regulatory domain.
TABLES:
Table 1. Orthologous proteins reported to be involved in or inhibit MMEJ.
Table S1: Mechanisms that give rise to genomic structural variation.
Table S2. Examples of microhomology at rearrangement junctions.
This document provides an overview of the molecular foundations of cancer. It discusses how cancer arises from genetic and epigenetic aberrations that accumulate in cells and lead to altered gene expression and the acquisition of hallmark capabilities that allow tumors to form and progress. Key points covered include the types of genomic changes like mutations and chromosome defects that occur; the roles of oncogenes and tumor suppressor genes; how cancer risk can be inherited; and the uses of genomics in cancer diagnosis and targeted treatment.
ABDOMINAL TRAUMA in pediatrics part one.drhasanrajab
Abdominal trauma in pediatrics refers to injuries or damage to the abdominal organs in children. It can occur due to various causes such as falls, motor vehicle accidents, sports-related injuries, and physical abuse. Children are more vulnerable to abdominal trauma due to their unique anatomical and physiological characteristics. Signs and symptoms include abdominal pain, tenderness, distension, vomiting, and signs of shock. Diagnosis involves physical examination, imaging studies, and laboratory tests. Management depends on the severity and may involve conservative treatment or surgical intervention. Prevention is crucial in reducing the incidence of abdominal trauma in children.
Recomendações da OMS sobre cuidados maternos e neonatais para uma experiência pós-natal positiva.
Em consonância com os ODS – Objetivos do Desenvolvimento Sustentável e a Estratégia Global para a Saúde das Mulheres, Crianças e Adolescentes, e aplicando uma abordagem baseada nos direitos humanos, os esforços de cuidados pós-natais devem expandir-se para além da cobertura e da simples sobrevivência, de modo a incluir cuidados de qualidade.
Estas diretrizes visam melhorar a qualidade dos cuidados pós-natais essenciais e de rotina prestados às mulheres e aos recém-nascidos, com o objetivo final de melhorar a saúde e o bem-estar materno e neonatal.
Uma “experiência pós-natal positiva” é um resultado importante para todas as mulheres que dão à luz e para os seus recém-nascidos, estabelecendo as bases para a melhoria da saúde e do bem-estar a curto e longo prazo. Uma experiência pós-natal positiva é definida como aquela em que as mulheres, pessoas que gestam, os recém-nascidos, os casais, os pais, os cuidadores e as famílias recebem informação consistente, garantia e apoio de profissionais de saúde motivados; e onde um sistema de saúde flexível e com recursos reconheça as necessidades das mulheres e dos bebês e respeite o seu contexto cultural.
Estas diretrizes consolidadas apresentam algumas recomendações novas e já bem fundamentadas sobre cuidados pós-natais de rotina para mulheres e neonatos que recebem cuidados no pós-parto em unidades de saúde ou na comunidade, independentemente dos recursos disponíveis.
É fornecido um conjunto abrangente de recomendações para cuidados durante o período puerperal, com ênfase nos cuidados essenciais que todas as mulheres e recém-nascidos devem receber, e com a devida atenção à qualidade dos cuidados; isto é, a entrega e a experiência do cuidado recebido. Estas diretrizes atualizam e ampliam as recomendações da OMS de 2014 sobre cuidados pós-natais da mãe e do recém-nascido e complementam as atuais diretrizes da OMS sobre a gestão de complicações pós-natais.
O estabelecimento da amamentação e o manejo das principais intercorrências é contemplada.
Recomendamos muito.
Vamos discutir essas recomendações no nosso curso de pós-graduação em Aleitamento no Instituto Ciclos.
Esta publicação só está disponível em inglês até o momento.
Prof. Marcus Renato de Carvalho
www.agostodourado.com
These lecture slides, by Dr Sidra Arshad, offer a quick overview of the physiological basis of a normal electrocardiogram.
Learning objectives:
1. Define an electrocardiogram (ECG) and electrocardiography
2. Describe how dipoles generated by the heart produce the waveforms of the ECG
3. Describe the components of a normal electrocardiogram of a typical bipolar lead (limb II)
4. Differentiate between intervals and segments
5. Enlist some common indications for obtaining an ECG
6. Describe the flow of current around the heart during the cardiac cycle
7. Discuss the placement and polarity of the leads of electrocardiograph
8. Describe the normal electrocardiograms recorded from the limb leads and explain the physiological basis of the different records that are obtained
9. Define mean electrical vector (axis) of the heart and give the normal range
10. Define the mean QRS vector
11. Describe the axes of leads (hexagonal reference system)
12. Comprehend the vectorial analysis of the normal ECG
13. Determine the mean electrical axis of the ventricular QRS and appreciate the mean axis deviation
14. Explain the concepts of current of injury, J point, and their significance
Study Resources:
1. Chapter 11, Guyton and Hall Textbook of Medical Physiology, 14th edition
2. Chapter 9, Human Physiology - From Cells to Systems, Lauralee Sherwood, 9th edition
3. Chapter 29, Ganong’s Review of Medical Physiology, 26th edition
4. Electrocardiogram, StatPearls - https://www.ncbi.nlm.nih.gov/books/NBK549803/
5. ECG in Medical Practice by ABM Abdullah, 4th edition
6. Chapter 3, Cardiology Explained, https://www.ncbi.nlm.nih.gov/books/NBK2214/
7. ECG Basics, http://www.nataliescasebook.com/tag/e-c-g-basics
Basavarajeeyam is an important text for ayurvedic physician belonging to andhra pradehs. It is a popular compendium in various parts of our country as well as in andhra pradesh. The content of the text was presented in sanskrit and telugu language (Bilingual). One of the most famous book in ayurvedic pharmaceutics and therapeutics. This book contains 25 chapters called as prakaranas. Many rasaoushadis were explained, pioneer of dhatu druti, nadi pareeksha, mutra pareeksha etc. Belongs to the period of 15-16 century. New diseases like upadamsha, phiranga rogas are explained.
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.
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
- Video recording of this lecture in English language: https://youtu.be/kqbnxVAZs-0
- Video recording of this lecture in Arabic language: https://youtu.be/SINlygW1Mpc
- Link to download the book free: https://nephrotube.blogspot.com/p/nephrotube-nephrology-books.html
- Link to NephroTube website: www.NephroTube.com
- Link to NephroTube social media accounts: https://nephrotube.blogspot.com/p/join-nephrotube-on-social-media.html
8 Surprising Reasons To Meditate 40 Minutes A Day That Can Change Your Life.pptxHolistified Wellness
We’re talking about Vedic Meditation, a form of meditation that has been around for at least 5,000 years. Back then, the people who lived in the Indus Valley, now known as India and Pakistan, practised meditation as a fundamental part of daily life. This knowledge that has given us yoga and Ayurveda, was known as Veda, hence the name Vedic. And though there are some written records, the practice has been passed down verbally from generation to generation.
1. De Generatione Animalium
On the Generation of Animals
William Harvey, 1651
Ex ovo omnia
From the egg, everything
1578-1657
Denise Sheer ~ Inaugural Lecture 10th May 2010
3. Walther Flemming
1843-1905
Antonie van Leeuwenhoek
1632-1723
Polytene chromosomes
in Chironomus
Dividing cells
Chick red blood cells
Denise Sheer ~ Inaugural Lecture 10th May 2010
4. Cells behave as they do because of their genes
Cell nucleus
46 chromosomes
GenesDNA
Denise Sheer ~ Inaugural Lecture 10th May 2010
5. Where do genes map onto chromosomes?
What is the architecture of the chromosome?
Which genetic abnormalities are involved in cancer?
Denise Sheer ~ Inaugural Lecture 10th May 2010
6. A path travelled well….
Denise Sheer ~ Inaugural Lecture 10th May 2010
7. Dr Jenni Tsafrir
Genetics of eye colour
What was known then about chromosomes?
1965 - Barbara McClintock, Cornell University-Aspects of Gene Control in Higher Organisms
“mechanisms related to.. .the chromosomes…and the highly organized nuclei”.
Down Syndrome
Denise Sheer ~ Inaugural Lecture 10th May 2010
8. 1969-1973
University of the Witwatersrand
Johannesburg
B.Sc - Zoology & Embryology
BSc (Hons) - Zoology
Prof Barry FabianProf Boris Balinsky
Professor Barry Fabian
nature Lifetime Mentoring Award 2007
Denise Sheer ~ Inaugural Lecture 10th May 2010
9. Hamburger & Hamilton 1951
Balinsky 1925
Amabis & Cabral 1970
Denise Sheer ~ Inaugural Lecture 10th May 2010
10. 1974-1975
South African Institute
of Medical Research
Anti-Snake Venom
Primate Research
Prof Trefor Jenkins
Diagnostic genetics
Genetic counselling
Chromosome banding
“Effects of dagga on primate chromosomes”
Down Syndrome
Denise Sheer ~ Inaugural Lecture 10th May 2010
11. Supervisor: Dr Martin Bobrow
1976-1980
University of Oxford
D.Phil.
Sir Walter Bodmer
Reproduced with kind permission of Juliet Wood
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Human
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Mouse
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Gene 1 Gene 2 Gene 3
Human-Mouse Hybrid Cells
Mapping genes onto chromosomes
Denise Sheer ~ Inaugural Lecture 10th May 2010
12. Imperial Cancer Research Fund/
Cancer Research UK
1980-1982 Post-Doctoral Research Fellow with Dr. Ellen Solomon
1982-2006 Head: Human Cytogenetics Laboratory
Mapping genes onto chromosomes
Denise Sheer ~ Inaugural Lecture 10th May 2010
14. Mapping the APC gene on chromosome 5
Adenomatous Polyposis Coli APC gene at 5q21
Bodmer et al 1987
Denise Sheer ~ Inaugural Lecture 10th May 2010
15. Genetic abnormalities in cancer
At the cellular level, cancer is a genetic disease
Denise Sheer ~ Inaugural Lecture 10th May 2010
16. Acute Lymphoblastic Leukaemia
Acute Myelomonocytic Leukaemia
Acute Promyelocytic Leukaemia
Breast Carcinoma
Chronic Myeloid Leukaemia
Colorectal Adenoma
Congenital Fibrosarcoma
Ewing’s Sarcoma
Glioblastoma
Krukenberg Tumour
Neuroblastoma
Ovarian Carcinoma
Pancreatic Carcinoma
Primitive Neuro-ectodermal Tumour
Genetic abnormalities in cancer
Ovarian Carcinoma
Glioblastoma
Neuroblastoma
Breast Carcinoma
Denise Sheer ~ Inaugural Lecture 10th May 2010
17. 15;17 identified in all cases of APL
Mapping the breakpoints
15;17 chromosome translocation in Acute Promyelocytic Leukaemia
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Mouse
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Sheer et al 1983
Sheer et al 1985
Denise Sheer ~ Inaugural Lecture 10th May 2010
18. What is the architecture of the chromosome?
“The great tragedy of science -
the slaying of a beautiful hypothesis by an ugly fact”
Thomas Henry Huxley (1870)
Thomas & Marion Cremer
Comings 1968 Cremer et al 1976
Chinese Hamster cells after
focal laser UV irradiation
Chromosome Territories
Inter-Chromosome Domain
Cremer et al 1993
Denise Sheer ~ Inaugural Lecture 10th May 2010
19. Chromosomes occupy discrete territories
Cremer & Cremer 2006Bolzer et al 2005
Denise Sheer ~ Inaugural Lecture 10th May 2010
21. MHC
Chr
6
Inac&ve
Ac&ve
Chromosome architecture is related to gene activity
Volpi et al 2000
Inac&ve
Ac&ve
* *
*
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Ac&ve
Denise Sheer ~ Inaugural Lecture 10th May 2010
22. 2006
Centre for Neuroscience & Trauma
Blizard Institute of Cell & Molecular Science
Barts & the London School of Medicine & Dentistry
Queen Mary University of London
What is the architecture of the chromosome?
What are the molecular determinants?
Which genetic abnormalities are involved in cancer?
How do children’s brain tumours arise?
Denise Sheer ~ Inaugural Lecture 10th May 2010
23. Chromosome architecture is dependent on signalling pathways
Inac&ve
Ac&ve
Interferon Gamma
JAK-STAT SIGNALLING
Christova et al 2007
Denise Sheer ~ Inaugural Lecture 10th May 2010
24. Chromosome architecture is related to gene activity
Inac&ve
Ac&ve
Anchored sites
Ottaviani et al 2008a,b
Denise Sheer ~ Inaugural Lecture 10th May 2010
25. Genetic abnormalities in paediatric low grade astrocytoma
SEERDenise Sheer ~ Inaugural Lecture 10th May 2010
26. Tiny duplication on chromosome 7 in pilocytic astrocytoma
Denise Sheer ~ Inaugural Lecture 10th May 2010
27. Forshew et al 2009; Tatevossian et al 2010; Lawson et al 2010
Tiny duplication on chromosome 7 in pilocytic astrocytoma
Denise Sheer ~ Inaugural Lecture 10th May 2010
28. KIAA1549 BRAF
Genes duplicated on chromosome 7
Forshew et al 2009; Tatevossian et al 2010; Lawson et al 2010Denise Sheer ~ Inaugural Lecture 10th May 2010
29. KIAA1549 BRAF
KIAA1549 BRAFKIAA1549- BRAF
fusion
Forshew et al 2009; Tatevossian et al 2010; Lawson et al 2010
Genes duplicated on chromosome 7
Denise Sheer ~ Inaugural Lecture 10th May 2010
30. The MAP kinase signalling pathway
BRAF
MEK1/2
ERK1/2
RAS
NF1
Signals from outside the cell
Forshew et al 2009; Tatevossian et al 2010; Lawson et al 2010
Regulated Cell Division
Denise Sheer ~ Inaugural Lecture 10th May 2010
32. BRAF fusion causes cells to keep dividing
MEK1/2
ERK1/2
RAS
P
P
NF1
Signals from outside the cell
BRAFKIAA1549
Increased Cell Division
Denise Sheer ~ Inaugural Lecture 10th May 2010
33. MEK1/2
ERK1/2
RAS
P
P
NF1
Signals from outside the cell
BRAFKIAA1549
New opportunities for treatment for pilocytic astrocytoma
Inhibitor
Increased Cell Division
Denise Sheer ~ Inaugural Lecture 10th May 2010
34. BRAF fusions: A microhomology mediated mechanism?
microhomology
insertion
microhomology
microhomology
microhomology
microhomology
insertion
Lawson, Hindley et alDenise Sheer ~ Inaugural Lecture 10th May 2010
35. BRAF fusions: A microhomology mediated mechanism?
Denise Sheer ~ Inaugural Lecture 10th May 2010
36. Where to now?
Where do genes map onto chromosomes?
What is the architecture of the chromosome?
Which genetic abnormalities are involved in cancer?
Cremer et al 2006
Denise Sheer ~ Inaugural Lecture 10th May 2010
37. Centre for Neuroscience and Trauma
Prof John Priestley ~ Prof Gavin Giovannoni
Surinder Pal ~ Carol Brown
Sir Nick Wright
Prof Tom MacDonald
Prof Mike Curtis
Jo Kirner ~ Kerry Newbury
Josie Dance
BLIZARD INSTITUTE OF CELL AND MOLECULAR SCIENCE
Denise Sheer ~ Inaugural Lecture 10th May 2010
38. Johan Aarum
Pavel Bezecny
Rossi Christova
Tim Forshew
Guy Hindley
Gabriel Jamie
Tania Jones
Andrew Lawson
Elliott Lever
William Ogunkolade
Diego Ottaviani
Chris Pieri
Jarek Szary
Ruth Tatevossian
Denise Sheer ~ Inaugural Lecture 10th May 2010
39. Jane Babbage
Srinjan Basu
Andi Bolzer
Guiseppe Calabrese
Edith Chevret
Rossen Donev
Ceri Edwards
Luda Federova
Rachel Gillingham
Pat Gorman
Vikki Groves
Peter Johonnett
Fiona Kiely
Xin Mao
Chiara Mazzanti
Paul Mulholland
Rosella Muresu
Alistair Newall
Rodger Palmer
Ketan Patel
Chrys Poulikas
Sue Rider
Rebecca Roylance
Gabi Senger
Carol Shiels
Janet Shipley
Petros Takousis
Badmavady Segarane
Clare Taylor
Radost Vatcheva
Emanuela Volpi
Jayson Wang
Sarah Williams
Jill Williamson
Pei Jun Wu
Stephan Beck
Walter Bodmer
Marion Cremer
Thomas Cremer
Thomas Down
David Ellison
Thomas Jacques
Chris Jones
Gavin Kelly
David Kelsell
Steve Krawetz
Mike Levin
Andrew Lister
Antony Michalski
Richard Mitter
Paul Mulholland
Dean Nizetic
Andrew Pearson
Jon Pritchard
Jiannis Ragoussis
Peter Sasieni
Janet Shipley
Andrew Silver
Jeremy Squire
John Trowsdale
Frank Uhlmann
Bryan Young
Denise Sheer ~ Inaugural Lecture 10th May 2010