The Human Genome Project? in your classroom

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The Human Genome Project?in your classroom

• Fiona Cunningham
• Education Officer
• the gene CRC

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The Human Genome Project

• Established 1988
• Initiated 1990
• Predicted to revolutionise human medicine
• investigating molecular basis of genetic disease
• testing
• prevention
• new therapies

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DNA

• Twisted ladder or DOUBLE HELIX
• Rungs of ladder - bases A G C T
• Sequence of AT GC pairs determines proteins
  structure and function
• Alter base sequence - MAY change protein
• GOOD, BAD or INDIFFERENT

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First Draft completed June 2000
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The Map..
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The players
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Whose genome was sequenced?

• How many individuals?
• Public effort (NIH, DOE etc)
• 1 (15) 1 (70) some (the rest)
• Could they miss any genes?
• Celeras 5 individuals
• all sequenced, aligned
• identified polymorphisms, SNPs, where differences
  occurred

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Sequencing every base..
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Why sequence every base pair?

• Maps of the genome are important
• Why?
• localisation of genes
• homologies between species
• why else?

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Chicken Genome Project?
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Has every base pair been sequenced?

• No
• 3.2Gb estimated size
• 84 of the genome
• 30,000 genes
• What does it mean?

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30 000 genes .

• NIH - 31 000, 22 000 listed
• Celera - 26 000
• 740 non-protein coding RNAs - cell housekeeping
  (many more not IDd)
• Compared to
• yeast 6 000, fly 13 000, worm 18 000, plant 26
  000
• Only 30 000 genes are humans really quite
  biologically simple?

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Human complexity?

• Most genes from our evolutionary past
• Only 94 of 1278 protein families specific to
  vertebrates
• Diff between us and worms is the complexity of
  our proteins
• more domains per protein
• greater regulation of transcription translation

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The future..

• First there was HUGO
• Now there is HUPO!
• Proteomics the cash crop of research in the
  future?
• Functions and expression patterns of proteins
  encoded by the genes

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Why genetics for my students?

• Will it change anything?
• Knowledge of genes role in diseases
• Immediately still woke up and had cornflakes
  the next day
• Short term
• Long term

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Genes, disease testing

• Over 6000 single gene disorders identified
• Many diseases are multifactorial
• many genes interact with each other
• with the environment
• eg Alzheimer disease, diabetes, CHD, asthma
• (many other common diseases may have a genetic
  component inherit predisposition or increased
  risk to develop these)

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Genetics in the 21st century (1)

• Genetic testing
• carrier, diagnostic, predictive, predisposition
• newborn
• prenatal
• Risk vs certainty
• Uses of this info?
• Non-disease traits?
• IQ, aggression, height?

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Screening programs in Victoria

• Newborn screening
• PKU, Congenital Hypothyroidism, Cystic fibrosis,
  (other metabolic conditions?)
• Tay Sachs disease
• Neurodegenerative disorder, Jewish schools
• HAEMscreen (pilot study)
• Iron overload disorder - affects adults
• Common and preventable
• Pilot screening program in workplace

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Genetics in the 21st century (2)

• Gene related therapies
• better drug therapies
• better environmental modification strategies
• cell cloning technologies
• gene therapy
• therapeutic
• enhancement

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Genetics in the 21st century (3)

• pharmacogenomics

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Genetics in the 21st century (4)

• Forensic science genetics is used in
• identifying suspects in criminal cases
• food contamination testing
• paternity testing

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Genetics in the 21st century (4)

• Not just medical applications
• GMOs
• food
• agriculture
• environment
• industry
• Cloning
• nothing really to do with HGP

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Cloning in the 21st century

• Reproductive vs therapeutic
• Sevorino Antinori et al.
• Raelian cult Clonaid
• Can personality be cloned?
• Can we live for ever?

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Therapeutic cloning

• Involves stem cell technology
• Stem cells are derived from the inner cell mass
  of a 1-week-old embryo (blastocyst)
• Unlimited, prolonged self-renewal
• Can divide and differentiate into any type of
  body cell (!!!!!)

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Stem cell uses?

• Screening of drugs that may cause birth defects
• Discovery study of rare human proteins
• Study of early human development
• Gene therapy vector
• For transplantation of tissues
• still problem with rejection from patient

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Human cloning may be ethical?
ETHICAL?
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Why the controversy?

• Deriving stem cells from embryos destroys them!

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ELSI Ethical, legal social issues

• Privacy
• Confidentiality
• Discrimination
• Right to know
• Right not to know
• Family issues
• Social issues

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Insurance Patenting

• Health insurance in Aust
• Life insurance in Aust
• What can be patented?
• Gene
• gene product
• specific drugs which target the gene or gene
  product

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Gbenetics in your school?

• How can we ensure responsible ethical use of
  genetic knowledge technology? b

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Strategies for the classroom

• Dont start with peas, flies or worms
• Start with human stories
• Encourage students to express their views (try
  not to be directive)
• But also to give solid argument reasons for
  these views
• Encourage them to think beyond their own personal
  field
• legal, economic, social, religious views, family,
  community

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Equipping your students

• An understanding of genetics
• Skills to
• ethically analyse genetic technologies
• critically read and evaluate media reports
• actively seek out appropriate information -
• www, institutes, medical research institutes

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Biomedical ethics a simple framework

• Maximising benefits
• (beneficence)
• Minimising harm
• (non-maleficence)
• Autonomy
• includes individual rights and freedom of choice
• Justice
• fairness, equality, non-discrimination

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Equipping you

• Be informed
• Professional development
• Critically read newspaper articles
• Actively seek out appropriate news and
  documentaries
• Participate in debate

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Equipping you

• Integration into other areas of the curriculum
• Biology/science
• English, philosophy, religion society, physical
  education, legal studies etc
• Resources
• www, geneTHINK, geneTALK etc

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• Figure 5. An example of a worksheet and teacher
  notes.

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GENE Think 2000
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GENETalk 1General Genetics November 2000

• MCRI Education Unit
• MaryAnne Aitken
• Fiona Cunningham
• Eilís Hughes
• Sylvia Metcalfe

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Where do our chromosomes come from?
Every somatic cell in body has the same 46
chromosomes
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Autosomal recessive pedigree (cont.)
Probability of CF (Prob of c allele from
mother) x (Prob of c allele from father)
Probability of CF 1/2 x 1/2 1/4
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The Genethics Challenge
A controversial technology with enormous
potential. And our challenge? To fulfil this
potential without compromising our ethical
ideals. Ling San Lau, Genethics 2000 winner
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The Eutopian Times

• GENEdreams, a human biotechnology company in
  Eutopia, has captured the attention of
  parents-to-be with their offer of Design your
  own healthy baby! after launching a proposal to
  conduct genetic screening of unborn babies to
  prospective mothers. This program uses their
  patented BABY BODY microchip that uses DNA
  microarray technology to screen foetuses between
  the 10th 12th week of pregnancy for gene
  alterations that cause deafness, dwarfism
  predisposition to breast colon cancer. All for
  a mere cost of Eut10 000!

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• Civil rights right-to-life activist groups
  have been outraged by this proposal, along with
  disability groups such as the Eutopian Cultural
  Deaf Foundation SSPE (Short Statured People of
  Eutopia).
• A spokesman from the Eutopian Health Ministry
  ridiculed the proposal, stating that all babies
  are offered newborn screening for treatable
  genetic conditions such as PKU cystic fibrosis
  free of charge. The GENEdreams service preys on
  the fears of parents and is unnecessary.
• GENEdreams commented it is the right of every
  parent to choose whether or not to have a baby
  with or without a disability and to desire the
  best possible health outcomes for their children.
  If most parents decide against having a child
  with a disability, there will be more money
  available to help those who are born with a
  disability.

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Is the GENEdreams genetic screening proposal
ethically acceptable? Do you think this
proposal is more or less acceptable if parents
have to pay for it?
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DNA Chips
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Genethics 2001

• Gene Dreams Baby Body Microchip
• prenatal genetic testing for deafness, short
  stature, predisposition to breast or colon cancer
• Gene Dreams Baby Body Fix
• germline gene therapy for these????
• Prizes
• Chair of judging panel Sir Gus Nossal AO

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Genethics 2001

• GrandFinal
• Melbourne Museum
• Monday, 3 September, 10.30 to 11.45
• Followed by Genetic Testing in Australia
  discussion featuring Bob Williamson, Tom
  Shakespeare
• Contact Fiona Cunningham to reverse seats
  (limited, up to 10 per school)
• cunningf_at_cryptic.rch.unimelb.edu.au
• 03 8341 6319

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Factor V Leiden screening

• Mutation in Factor V gene prevents inactivation
  of the factor V clotting protein
• Predisposition to thrombosis (clots)
• heterozygotes 7x greater risk
• homozygotes 80 x greater risk
• COC pill is also risk factor for thrombosis
• COC pill Factor V Leiden even greater risk
• Should all year 11 girls be screened for the
  Factor V Leiden mutation?

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Some questions to ask

• What would be the benefits of this screening
  program?
• Could anyone be harmed?
• What effects would this proposal have on the
  girls autonomy (ability to make choices about
  their lives)?
• What rules would you put in place about who gets
  access to the test results and under what
  conditions?