This document summarizes a presentation given by Professor Ian Day about the potential for genetics to enable personalized healthcare. It discusses what is contained in the human genome, including genes, proteins, and variations. It provides examples of how genetic testing can help with diagnosis, disease risk prediction, and drug dosing. While full genome sequencing is currently expensive, the goal is to reduce the cost to $1,000 or less in the next 5 years. Understanding the genome could help tailor medical care to an individual's genetic profile.
A normal cell can be transformed into a cancerous cell. Discuss the therapeutic strategies that are employed to target the cellular transformation process for cancer prevention and treatment.
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A normal cell can be transformed into a cancerous cell. Discuss the therapeutic strategies that are employed to target the cellular transformation process for cancer prevention and treatment.
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Humans are 99.9% genetically identical and yet we are all so different. Even monozygotic twins have infrequent genetic differences due to mutations occurring during development and gene copy-number variation.
Bioinformatics & biostatistics tools for monogenic and multifactorial disease...Pasteur_Tunis
Présentation de Mourad Sahbatou réalisée durant le cours du réseau international des instituts Pasteur de "Médecine Génomique: du diagnostic à la thérapie " (17-21 octobre 2016)
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Study of genome-wide SNPs, mitochondrial DNA and Y-chromosomal DNA variation can provide a valuable information about the population structure and peopling of human populations. To explain a genetic homogeneity of Koreans and population structure of Koreans and the East Asian populations, we analyzed 153 individuals from the Korea and 77 individuals from the East Asia at 46,559 common single-nucleotide polymorphic loci. The 137 CHB and 113 JPT individuals at 25,769 common SNPs from the International HapMap project were further analyzed to reveal the population structure of the East Asians. Principal Component analyses (PCA) and population differentiation ( ) are examined. In the PCA test, the Jeju individuals were slightly different from other Koreans but their values were not significant. This reflect the genetic homogeneity of Korea population. In general, all the individual samples studied here were clustered into subset of ethnic origin according to their geographical location except Mongolians. Whole genome sequencing of Koreans and other population genome by next generation sequencing technology will provide great opportunity to understand the population expansion and peopling of Korea better.
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Genome Wide SNP Analysis for Inferring the Population Structure and Genetic H...Hong ChangBum
Study of genome-wide SNPs, mitochondrial DNA and Y-chromosomal DNA variation can provide a valuable information about the population structure and peopling of human populations. To explain a genetic homogeneity of Koreans and population structure of Koreans and the East Asian populations, we analyzed 153 individuals from the Korea and 77 individuals from the East Asia at 46,559 common single-nucleotide polymorphic loci. The 137 CHB and 113 JPT individuals at 25,769 common SNPs from the International HapMap project were further analyzed to reveal the population structure of the East Asians. Principal Component analyses (PCA) and population differentiation ( ) are examined. In the PCA test, the Jeju individuals were slightly different from other Koreans but their values were not significant. This reflect the genetic homogeneity of Korea population. In general, all the individual samples studied here were clustered into subset of ethnic origin according to their geographical location except Mongolians. Whole genome sequencing of Koreans and other population genome by next generation sequencing technology will provide great opportunity to understand the population expansion and peopling of Korea better.
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Describes the different therapeutic approach to patients with metastatic colorectal cancer in the 3rd subsequent treatment line with especial emphasis on the role of regorafenib and how to manipulate the adverse events while not compromise the outcome.
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Young breast cancer (BC) patients less than 45 years old are at higher risk of dying from the disease when compared to their older counterparts. However, specific risk factors leading to this poorer outcome have not been identified.
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Helicobacter pylori (H. pylori) infection and excessive salt intake are known as important risk factors for stomach cancer in humans. However, interactions of these two factors with gene expression profiles during gastric carcinogenesis remain unclear. In the present study, we investigated the global gene expression associated with stomach carcinogenesis and prognosis of human gastric cancer using a mouse model.
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In this presentation, Bill Faloon gives an update on the prospects of anti-aging drugs at the DaVinci 50 Masters Conference in Key Largo, Florida on April 29th, 2021.
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I. Potential
II. Classification
III. Clinical research
IV. Patient demand
V. Regulatory and legal framework
- USA
- Europe
VI. Professional societies
https://www.aretezoe.com/stem-cells
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Length: 30 minutes
Session Overview
-------------------------------------------
During this webinar, we will cover the following topics while demonstrating the integrations of JMeter, InfluxDB and Grafana:
- What out-of-the-box solutions are available for real-time monitoring JMeter tests?
- What are the benefits of integrating InfluxDB and Grafana into the load testing stack?
- Which features are provided by Grafana?
- Demonstration of InfluxDB and Grafana using a practice web application
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https://www.rttsweb.com/jmeter-integration-webinar
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Gopinath Rebala
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The latest edition of the OT/ICS and IoT security Threat Landscape Report 2024 also covers:
State of global ICS asset and network exposure
Sectoral targets and attacks as well as the cost of ransom
Global APT activity, AI usage, actor and tactic profiles, and implications
Rise in volumes of AI-powered cyberattacks
Major cyber events in 2024
Malware and malicious payload trends
Cyberattack types and targets
Vulnerability exploit attempts on CVEs
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Cyber risk predictions
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Systemic attacks in the Middle East
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Leading Change strategies and insights for effective change management pdf 1.pdf
Ian Day Edited Presentation
1. The potential of genetics
to enable personalization of healthcare
Professor Ian N M Day
MRC Centre (CAiTE) and
Bristol Genetic Epidemiology Laboratory
Department of Social Medicine
Oakfield House, Oakfield Grove
University of Bristol
Bristol Enterprise Network event „The Personalised Healthcare Revolution‟
8th October 2009
Bristol Zoo
2. What is in your genome?
• 3000 million A,C,G,T bases strung together into 23 long
molecules (chromosomes)
• The base sequence is your blueprint
• There are about 20,000 ‘genes’
• Each gene encodes a protein, e.g.haemoglobin
• 99% does NOT encode proteins. ?junk
• About 1% of bases are ‘polymorphic’
• You may have about 1m more ‘private’ variations
• Mutation of one base may cause a major disease
• You are 96% the same as chimp, 99.5% in protein coding
3. Where is your genome?
• There is a copy in every cell of your body
• Different genes are active in different cells
• However, you only copy half your genome
into a sperm or an egg
5. Melt-MADGE
Loading the gel
Pouring one gel Pouring 16 gels
Melt-MADGE system
Melt-MADGE tank
Glass-gel-glass sandwich
6. “ScanLab”
(same system to run melts and endoVII assays)
>>Goal – studying unknown mutations in populations … studies in
big case collections also feasible
>>Present capacity – 10 systems – 50million base pairs scanned per week
7. Found 1 severe mutation in MC4R
in 1,100 population sample
• Khalid K. Alharbi1, Emmanuel Spanakis1,
Karen Tan2, Matt J. Smith1, Mohammed
A. Aldahmesh1, Sandra D. O'Dell1, Avan
Aihie Sayer3, Debbie A. Lawlor4, Shah
Ebrahim5, George Davey Smith4,
Stephen O’Rahilly3, Sadaf Farooqi2 ,
Cyrus Cooper3, David I.W.Phillips3 and
Ian N M Day1
Prevalence and functionality
of paucimorphic and private
MC4R mutations in a large,
unselected European British
population, scanned by
meltMADGE (Human
Mutation 2006) (cat.P114)
MC4R A87D > (Appetite++) > BMI 31.5kg/m2
Does everybody have “one worst gene”?
Can we help them (cf phenylketonuria)?
8. From RV-CD to CV-CD
• Rare variant – common disease
• Common variant – common disease
22. What Sells to the Doctors?
• Genetic information that will help clinical process
• 1. diagnosis
• 2. prognosis
• 3. monitoring
• 4. screening
• 5. Non-directive counselling /reproductive choice
• 6. !! Not the patient’s right to know
23. Some real clinical examples
(single targetted gene tests)
• TPMT / thiopurines azathioprine, 6-mercaptopurine and 6-
thioguanine / organ Tx / autoimmune disease/ leukaemias
• Her2/NEU / breast cancer drug response
• VKORC1/CYP2C9 / warfarin dosing
• UGT1A1 /Gilbert’s / irinotecan / colon cancer
• DPYD, TS / 5-fluorouracil / gastric cancer
• (ABO) – blood group 1900-1925
24. Who gets the statins?
Average prescribing cutpoint
Red genotype over-represented and blue genotype under-represented relative
to black genotype. If we know the curves, then we could just use the genotype
ratios in those getting the statin, to determine the average prescribing cutpoint
Genotype ratio treatment index (GRTI)
NHS research of service delivery?
25. What does it all cost (2009)?
• 600,000 common polymorphisms (GWAS)
• £300 from 23andMe [NB £40 200K panels imminent]
• ‘Complete’ genome sequencing (NGS)
• £50,000
• 5 year goal of 1,000 dollar genome
• The cost of making sense of it all.
• The cost of leveraging value (to whoever) of that meaning
26. Urban(e) Dog Tags? (slide modified)
• identity
• blood type and history of inoculations
• Blood group
• Statin myopathy risk
• CFTR delta508, HBB E6V
• ALDH2 status
• BCHE D70G
• LCT
• Norwalk virus resistance
• MC1R, OCA2
• What I would really like for Xmas is
my complete genome sequence!
