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Medicine, Genomics See especially complex, Mendelian genetics, penetrance, polygenic and
post- genomic, Technologies overview
especially disruptive technologies, emerging technologies,
enabling technologies, nonlinear.
How does genomics differ from genetics?
Genetics
is much more linear than genomics, complicated but not as complex as genomics.
There is a whole lot more we need to understand, some of which we are only beginning to get glimpses
of. It is exciting, but humbling to realize how much remains to be
learned.
Doing (a few of) the
numbers:
The scale of genomics and bioinformatics
Current bioinformatics and chemoinformatics
methods of analysis and interpretation are having difficulty keeping up
with the rapid growth in sequencing data. New technologies such
as microarrays (and advances in existing ones such as mass spectrometry)
are leading to rapid growth in new terminology. An even bigger challenge
then new
vocabulary is the conceptual shift from classical genetics to a more dynamic
genomic “big picture” understanding of genomics, functional
genomics,
proteomics
and structural genomics.
DNA sequences
are essentially linear snapshots.
In the human genome less than 2 % of the
DNA is genes.
To
understand genes' functions we need to look at 3D protein
structures,
and
to begin to decipher physiological processes we need to examine changes
in gene and protein expression over time (4D). Our knowledge
of genetic variations is still sketchy and crucial to an understanding
of the role these differences play in pharmacogenomics. Will
genomic approaches lead to faster drug discovery and
development?
How
can we sort out the incremental advances from the true paradigm shifts
without experiencing information
overload?
Biology for non-biologists,
some particularly
for students and teachers
Exploring Our Molecular Selves, National Human
Genome Research Institute, NIH, US http://www.genome.gov/Pages/EducationKit/
Online, multi-media educational kit DOE HGP
Genomics Primers
,
Oak Ridge National Laboratory, DOE US http://www.ornl.gov/sci/techresources/Human_Genome/publicat/primer/index.shtml
A useful and accessible introduction, includes the Genome Glossary http://www.ornl.gov/sci/techresources/Human_Genome/glossary/
Intute: Bioresearch,
University of Nottingham, UK http://www.intute.ac.uk/healthandlifesciences/bioresearch/
Best of the web.
Science
Primer, National Center for Biotechnology Information, US, 2002 http://www.ncbi.nlm.nih.gov/About/primer/index.html
Bioinformatics, genome mapping, molecular modeling, SNPs, ESTs, microarray
technology, molecular genetics, pharmacogenomics, phylogenetics
Particularly for students & teachers
- but potentially useful
for anybody Bio-Interactive, Howard Hughes Medical Institute http://www.biointeractive.org/ DNA Learning Center, DNA Lab, Cold Spring Harbor Laboratory, US http://vector.cshl.org/
A clearinghouse for information
on DNA science, genetic medicine, and biotechnology, to provide an interactive
learning environment for students, teachers, and nonscientists, extending
the Laboratory's traditional research and postgraduate education mission
to the college, precollege, and public levels. Educational
Outreach Program, Broad Institute,
Cambridge MA, US http://www.broadinstitute.org/outreach/education Folding@home,
Stanford Univ. http://www.stanford.edu/group/pandegroup/folding/education/index.html
An opportunity for teachers and students to participate in scientific research.
Organic chemistry, molecular modeling and distributed computing (and
proteomics). Genetics Education Center,
Univ. of Kansas Medical Center, 2002 http://www.kumc.edu/gec/
For educators interested in human genetics and the human genome project. Geospiza
Education section http://www.geospiza.com/education/
Interactive learning tools for students Exploring
the Nanoworld, University
of Wisconsin, http://www.mrsec.wisc.edu/edetc/index.html
2004. myDNA
Teacher Guide http://www.dnai.org/teacherguide/guide.html Neuroscience
for Kids, Eric H. Chudler, Univ. of Washington, US 2001 http://faculty.washington.edu/chudler/neurok.html
Understanding the Human
Genome Project, NHGRI, 2008 http://www.genome.gov/25019879 User's guide to the
Human Genome,
Nature Genetics, 32 (1): supp 2002 http://www.nature.com/cgi-taf/DynaPage.taf?file=/ng/journal/v32/n1s/index.html
Virtual Cell
Webpage
http://www.ibiblio.org/virtualcell/
Whitehead Institute
Teacher Program, MIT, US http://www.wi.mit.edu/programs/teacher/index.html Your Genome.org- Beginner, Sanger Centre, UK
http://www.yourgenome.org/dgg/
Science literacy:
Project 2061, American Association for the
Advancement of Science http://www.project2061.org/
A
long- term initiative working to reform K-12 science, mathematics, and technology education nationwide.
Good
starting points for almost anyone wanting to know more about genomics
Beginner's guide to molecular biology, Molecular Biology Notebook,
Rothamstead Research, UK, 2004 http://www.rothamsted.ac.uk/notebook/courses/guide/
Biointeractive, Howard Hughes Medical Institute http://www.biointeractive.org/
Virtual labs, animations, virtual museums, web videos, click and learn
tutorials.
BBC News In-depth Human Genome, UK http://newsvote.bbc.co.uk/low/english/in_depth/sci_tech/2000/human_genome/default.stm
Current news from the UK, articles on what the genome can do for you, and archives on completed genomes.
European Initiative for Biotechnology Education, EIBE, European
Commission http://www.rdg.ac.uk/EIBE/home.html
Lesson units and teaching approaches.
Human Genome Project Education Resources, Oak Ridge National Laboratory, DOE,
US, 2002 http://www.ornl.gov/hgmis/education/education.html
Includes publications, teaching aids, links to videos, graphics and animations,
career enhancement resources for teachers and more..
Meet the Decoders,
Nova, PBS, US. http://www.pbs.org/wgbh/nova/genome/decoders.html
Interviews with Francis Collins (NHGRI), Craig Venter, Eric Lander (Whitehead
Institute)
Genome News Network,
Center for the Advancement of Genomics (TCAG) http://www.genomenewsnetwork.org/
Online news, 2000 - present.
Structures of Life, National Institute of General Medical
Sciences, 2000- 2001. http://www.nigms.nih.gov/news/science_ed/structlife.pdf. Welcome to the NCBE, National Centre for Biotechnology Education
(NCBE), UK http://www.ncbe.reading.ac.uk/
Listservs and other teacher resources, protocols for classrooms and school labs,
GM food, lab safety, links.
What's it going to mean to me?
Genomes to Life,
US Department of Energy http://doegenomestolife.org/
Your genes, your choices: Exploring the choices raised
by genetic research
Catherine Baker, part of the AAAS Science + Literacy for
Health Project http://ehrweb.aaas.org/ehr/books/index.html
Patient resources
links to websites for general patient and disease related
information.
Sources for more information
Lodish, Harvey, Molecular Cell Biology 4e, WH Freeman & Co.,1999
and website. http://www.whfreeman.com/lodish/
Doing (a few of) the numbers: Genomics and bioinformatics
Drug discovery Useful metaphor? Grain of rice on a chessboard, doubles
each square. Genome sizes – how many genes? Feb. 2001 Science and Nature working drafts t Human
genome issues estimated 30K- 40K human genes (much lower than expected),
but alternative splicing (in genes) is much higher, producing more variant
proteins. Compared to proteins, genes were easy. Proteomics
is the next step. The barley and wheat genomes have more genes than
the human genome. Joachim Messing, "Do Plants have more genes than
people?" HMS Beagle, June 21, 2001 http://news.bmn.com/hmsbeagle/105/viewpts/op_ed
Also appeared in Trends in Plant Science, 6(5): 195-
196, 2001. GenBank grows at an exponential rate, with the number of nucleotide bases doubling approximately every 14 months. Currently, GenBank contains more than 17 billion bases from over 100,000 species.
[NCBI Databases, National Center for Biotechnology Information, US " Revised March 22, 2002]
http://www.ncbi.nlm.nih.gov/Database/index.html
See chart of growth 1982- 2000. Gene expression informatics What does a microarray look like?
http://mathforum.org/mam/02/images/Microarray.jpg True microarray story informatics: The world produces between 1 and 2 exabytes of unique information per year, which is roughly 250 megabytes for every man, woman, and child on earth. An exabyte is a billion gigabytes, or 1018 bytes. Printed documents of all kinds comprise only .003% of the total. Magnetic storage is by far the largest medium for storing information and is the most rapidly growing, with shipped hard drive capacity doubling every year. [Lyman, Peter and Hal R. Varian, "How Much Information", 2000.
Retrieved from http://www.sims.berkeley.edu/how-much-info
on [May 19, 2002] Executive summary 1 Megabyte: A small novel OR a 3.5 inch floppy disk; 2 Megabytes: A high resolution photograph;
5 Megabytes: The complete works of Shakespeare OR 30 seconds of TV- quality video;
{Powers of ten, How much information, UC- Berkeley, US, 2000 [retrieved May 19,
2002] http://www.sims.berkeley.edu/research/projects/how-much-info/datapowers.html Really big numbers
Computers
& computing peta (exa, zetta, yotta), petaflop, teraflop Really small numbers Ultrasensitivity
glossary atto, femto, micro, nano, pico, yocto, zepto Perspectives: Powers of Ten National High Field Magnetic
Lab, Florida State Univ. US http://micro.magnet.fsu.edu/optics/activities/students/perspectives.html Economics of genomics: 1990@ $10/base = $3
billion. 2002 @ $.10/base = $3 million Nov.
30, 2001 – The Tufts Center for the Study of Drug Development today
announced that the average cost to develop a new prescription drug is $802
million. Joseph DiMasi, Center for the Study of Drug Development, Tufts
Univ. http://csdd.tufts.edu/NewsEvents/RecentNews.asp?newsid=6 During the entire decade of the 90s, drugs that accounted for about $17 billion in sales went off patent. The next five
years will see drugs with sales of $19 billion lose their patents, according to data from brokerage UBS
PaineWebber. Sam Jaffe "Biotech- Big Pharma Betrothals
Declining" Scientist 16 (14): 57 July 8, 2002 Useful metaphor Sailing and tacking - getting there as quickly as possible:
Straight ahead stops dead, tacking from side to side is the fastest way to
get where you’re going
Basic biopharmaceutical genetics &
genomics what's the difference?
Evolving Terminology for Emerging Technologies
Suggestions? Comments? Questions? mchitty@healthtech.com
Last revised March 23, 2012

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Genetics looks at single genes, one
at a time, as a snapshot. Genomics is trying to look at all the genes
as a dynamic system, over time, to determine how they interact and influence
biological pathways, networks and physiology, in a much more global sense. A dynamic process, 2D vs. 3D and 4D.
A quick introduction to elements of biology - cells, molecules, genes,
functional genomics, microarrays, Alvis Brazma, Helen Parkinson, Thomas
Schlitt, Mohammadreza Shojatalab, EMBL-EBI, European Bioinformatics Institute,
Oct. 2001. http://www.ebi.ac.uk/microarray/biology_intro.htm
A brief introduction to molecular biology with emphasis on genomics
and bioinformatics. It is intended
for scientists, engineers, computer programmers, or anybody with background or
strong interest in science, but without background in biology ... we have tried
to distil the content down to the absolute minimum needed to make some sense of bioinformatics,
while on the other to leave in enough to show why it is interesting
Access Excellence, National Health
Museum, US http://www.accessexcellence.org/
Provides high school biology and life science teachers access to their
colleagues, scientists, and critical sources of new scientific information.
Originally developed and launched
by Genentech Inc.
Quick Links for students & educators http://www.broadinstitute.org/quicklinks/quicklinks-students-and-educators
All about the Human Genome Project, NHGRI, 2008 http://www.genome.gov/10001772
High School Student Lectures http://www.wi.mit.edu/programs/student/index.html
ActionBioscience,
American Institute of Biological Sciences, Genomics http://www.actionbioscience.org/genomic/index.html
Exploring Our
Molecular Selves, National Human Genome Research Institute, US http://www.nhgri.nih.gov/educationkit/
NHGRI Glossary of genetic terms http://www.genome.gov/glossary/index.cfm?
A useful accessible guide to technology is William Bains' Biotechnology A-Z,
Oxford University Press, 2003. About 400 entries/ definitions. To order: http://www.oup.co.uk/isbn/0-19-852498-6
Particularly strong in bioprocessing and manufacturing technologies, and
environmental applications, which are not areas of major emphasis in these
glossaries.
There isn’t enough matter in the universe to make all the
possible combinatorial chemistry compounds. Combinatorial
libraries & synthesis glossary
Oxford English Dictionary quotation in the entry for "genome"
Scientific American Oct. 1970 "The human genome
consists of perhaps as many as 10 million genes."
Microarrays of 7,000 genes = 24 million pairwise
comparisons.
Bioinformatician/statistician "For statistical significance you should
replicate this microarray experiment 100 times. What were you planning on?"
Research biologist: "Once."
Bioinformatician/statistician: "So we compromised on twice."
Human genome
sequencing When the HGP was initiated [1990], vital automation tools and
high-throughput sequencing technologies had to be developed or improved. The
cost of sequencing a single DNA base was about $10 then; today, sequencing costs
have fallen about 100-fold to $.10 to $.20 a base and still are dropping
rapidly. [DOE, Human Genome Project and the Private Sector, 2002] http://www.ornl.gov/hgmis/project/privatesector.html