medical biotechnology is an application of biotechnology - lone
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Medical Biotech Page 1
NSF Award
# 0401988
MEDICAL BIOTECHNOLOGY
A Resource Guide for Biotechnology Club
Sponsors
This chapter contains background information,
experiment ideas and contact suggestions. Topics
covered include:
Human Gene Project
Detecting Genetic Diseases
Pharmacogenomics
Gene Therapy
Arrays
Medical Biotech Page 2
Medical Biotechnology
Medical biotechnology is an application of biotechnology that touches the lives of
individuals every day. Both wellness and illness have ties to biotechnology. Advances in
biology over the last 20 years have generated new insights into the causes of disease. This
new level of understanding has, in turn, created opportunities for the development of new
therapies, drugs, diagnostic tools and research/clinical instrumentation. Medical
biotechnology is one of the fastest growing opportunities for employment in the medical
research field.
Scientists are looking at the genetic causes of diseases, genetic links among family
members, and individualized cures. As the Human Genome Project continues to map the
locations of genes on human chromosomes, more solutions to the cause, prevention and
cure of diseases will be discovered. Students will enjoy many aspects of medical
biotechnology as they study genetic diseases and relate them to the medical experiences
of family and friends.
Some of the topics related to medical biotechnology have been covered in other chapters.
This chapter will offer background information and activities in the following areas:
Human Genome Project and its influence on medical biotechnology
Detecting Genetic Diseases
Biotech in the Hospital
o Pharmacogenomics
o Gene therapy
o Arrays
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Human Gene Project and its Influence on Medical
Biotechnology
The human genome project was begun in 1990 and was coordinated by the U.S.
Department of Energy and the National Institutes of Health. The project was projected to
last 15 years, but rapid technological advances facilitated completion in 2003. Some of
the project’s goals were to:
identify all the approximately 20,000-25,000 genes in human DNA,
determine the sequences of the 3 billion chemical base pairs that make up human
DNA
transfer related technologies to the private sector
address the ethical, legal, and social issues (ELSI) that may arise from the project
A genome is all the DNA in an organism, including all of its genes. Genes carry
information for making all the proteins required by an organism. These proteins
determine such things as the organism’s appearance, how it metabolizes food and how it
fights infection. They can also influence an organism’s behavior.
DNA is made up of four similar nucleotides (designated by an organic base they contain,
abbreviated A, T, C, and G) that are repeated millions or billions of times throughout a
genome. The human genome, for example, has 3 billion pairs of nucleotides or ―base
pairs.‖
Knowledge about the effects of DNA variations among individuals can lead to
revolutionary new ways to diagnose, treat, and someday prevent the thousands of
disorders that affect us.
Some current and potential applications of genome research include
Molecular medicine
Energy sources and environmental applications
Risk assessment
Bioarchaeology, anthropology, evolution, and human migration
DNA forensics (identification)
Agriculture, livestock breeding, and bioprocessing
Molecular Medicine
Some of the goals of molecular medicine include
Improved diagnosis of disease
Earlier detection of genetic predispositions to disease
Rational drug design
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Gene therapy and control systems for drugs
Pharmacogenomic ("custom drugs")
Increasingly detailed genome maps have aided researchers seeking genes associated with
dozens of genetic conditions, including myotonic dystrophy, fragile X syndrome,
neurofibromatosis types 1 and 2, inherited colon cancer, Alzheimer's disease, and familial
breast cancer. Doctors can identify people at high risk for conditions that may be
preventable or its consequences lessened with appropriate treatment.
It is projected that in the next 15 years, thousands of potential new drugs will be
identified for testing as possible commercial products. Many will be manufactured by
recombinant DNA technology so they will be "reagent-grade pure," just as human insulin
and growth hormone are today.
Individual medical records may someday include a listing of that person’s complete
genome as well as a catalogue of single base-pair variations that can be used to accurately
predict his or her responses to certain drugs and environmental substances. This will
permit each person to be treated as a biochemical and genetic individual, thus making
medical interventions more specific, precise, and successful.
Today, many people die each year from adverse reactions to drugs, while others have
uncomfortable or dangerous side effects. As genes and other DNA sequences that
influence drug response are identified, it is projected that the number of toxic responses
will drop and most side effects can be eliminated.
Internet resources:
Dolan DNA Learning Center, Cold Spring Harbor Laboratory: Great site for
information, video, audio, animations, etc. Many different topics can be accessed from
the same site. (Click to view web snapshot) Page 15
http://www.dnaftb.org/dnaftb/39/concept/index.html
All About The Human Genome Project: Official site of the Human Genome Research
Institute: Great information and links with audio explanations of concepts. (Click to view
web snapshot – three pages) Pages 16-18
http://www.genome.gov/10001772
The Science Behind the Human Genome Project: Basic Genetics, Genome Draft
Sequence, and Post-Genome Science. Basic information with many links
http://www.ornl.gov/sci/techresources/Human_Genome/project/info.shtml
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Journey into DNA: a NOVA movie. The entire 2 hour movie can be downloaded in
segments so students can explore their areas of interest. (Click to view web snapshot –
two pages) Page 19
http://www.pbs.org/wgbh/nova/genome/dna.html
Cracking the Code of Life. A complete educational module from NOVA: The site has
wonderful animations and videos.
http://www.pbs.org/wgbh/nova/genome/
Computer simulation
Bacterial Identification Lab: This lab will familiarize students with the techniques used
to identify different types of bacteria based on DNA sequences. Steps include sample
prep, PCR amplification, PCR purification, sequencing preparation, DNA sequencing,
and sequence analysis. This is a very engaging and colorful simulation. (Click here for
introduction screen) Page 38
http://www.hhmi.org/biointeractive/
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Detecting Genetic Diseases
Until recently, most genetic testing occurred on fetuses for the purpose of identifying the
sex of a child or to detect a small number of genetic diseases (such as Down syndrome).
Amniocentesis was used in these cases – a needle is inserted through the mother’s
abdomen into the pocket of amniotic fluid surrounding the fetus. Removed cells are
treated to release their chromosomes which are then stained with different dyes and
paired. This technique is called karyotyping.
Karyotyping is also carried out on adults to check for missing, defective or duplicate
chromosomes. As research continues, however, more sophisticated techniques are being
developed and used to detect individual diseased genes in children and adults. Correct
diagnosis of a genetic disorder allows for more rapid and effective application of
appropriate treatment.
DNA-Based Gene Tests currently available include those to detect:
Amyotrophic lateral sclerosis (ALS; Lou Gehrig's Disease; progressive motor function loss
leading to paralysis and death) Alzheimer's disease* (APOE; late-onset variety of senile dementia) Ataxia telangiectasia (AT; progressive brain disorder resulting in loss of muscle control and
cancers) Inherited breast and ovarian cancer* (BRCA 1 and 2; early-onset tumors of breasts and
ovaries) Hereditary nonpolyposis colon cancer* (CA; early-onset tumors of colon and sometimes other
organs) Cystic fibrosis (CF; disease of lung and pancreas resulting in thick mucous accumulations and
chronic infections) Hemophilia A and B (HEMA and HEMB; bleeding disorders) Myotonic dystrophy (MD; progressive muscle weakness; most common form of adult muscular
dystrophy) Sickle cell disease (SS; blood cell disorder; chronic pain and infections) Spinal muscular atrophy (SMA; severe, usually lethal progressive muscle-wasting disorder in
children) Tay-Sachs Disease (TS; fatal neurological disease of early childhood; seizures, paralysis) [3/99]
Many more DNA-based gene tests can be found at the following web site:
http://www.ornl.gov/sci/techresources/Human_Genome/medicine/assist.shtml
Internet resources:
DNA Learning center: Great web site with animations and audio on several topics.
Click on the Genes and Medicines module to explore the following topics:
Gene hunting: Learn about the race to identify and clone the first gene to be
associated with breast cancer.
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Gene testing: Learn how to test for cancer-causing mutations, and how the results
have affected lives.
Genetic profiling: Find out how genome-wide analysis could lead to medical
innovations.
Drug design: See how a form of leukemia can be effectively controlled.
Gene targeting: Meet the scientist whose technique may one day correct genetic
defects.
http://www.dnai.org/d/index.html
Human Genome Project Information: Information from the US Department of Energy
Office of Science. Topics covered include: what is gene testing, how it works, pros and
cons, regulations, and links for more information. (Click for web snapshot) Page 27
http://www.ornl.gov/sci/techresources/Human_Genome/medicine/genetest.shtml
Access Excellence Resource Center: Understanding gene testing – nice tutorial on
topics concerned with gene testing. Graphics and simple explanations. (Click for web
snapshot) Page 28
http://www.accessexcellence.org/AE/AEPC/NIH/index.html
Human gene project educational pages. Very animated, several film clips
http://www.genome.gov/Pages/EducationKit/online.htm
National Cancer Institute: Slide show with graphics and information about cancer
testing and genetic relationships. Each tutorial is also available in PDF and PowerPoint
formats that may be downloaded from the Web. The art presented is copyrighted but
distributed free of charge for educational purposes. Information is also available in
Spanish. Tutorials include:
Cancer
The Immune System
Cancer Genomics
Molecular Diagnosis
Angiogenesis
Estrogen Receptor
Genetic Variation
Gene Testing
Cancer Genome Project
Nanodevices
http://www.cancer.gov/cancertopics/understandingcancer/genetesting/Slide1
Genetic Disorder Corner: What are Genetic Disorders? A great website with wonderful
links and interactive labs. (Click for web snapshot) Page 29
http://gslc.genetics.utah.edu/units/disorders/
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Internet activity:
Finding a Gene on the Chromosome Map: Explanation of steps involved in detecting a
genetically linked condition and computer activity, Find the Gene for Whirling Disorder!
http://gslc.genetics.utah.edu/units/disorders/pedigree/
SNiPping Away at the Problem: An animated discussion of how tiny variations in a
person’s DNA make-up can help predict drug response or disease risk.
http://gslc.genetics.utah.edu/units/pharma/index.cfm
Classroom activity:
Newborn Genetic Screening: Complete packet ready to print and use. (Click for web
snapshot) Page 30
http://gslc.genetics.utah.edu/units/disorders/newborn/
Simulated Genetic Counseling Session: Complete packet ready to print and use (Click
to view web snapshot) Page 25
http://www.kumc.edu/gec/famhx/famhxins.html
Research a genetic-linked disease of interest to the club and invite a member of a local
support group to speak to the club. Use the following multimedia guide to investigate
familiar genetic disorders: (click for web snapshot) Page 32
http://www.ygyh.org.
Each condition is explained with graphics, animations and video clips. Some of the
disorders covered include hemophilia, cystic fibrosis, Huntington disease, cycle cell
disease and Tay-Sachs disease.
Experiment:
Sickle cell anemia. Electrophoresis is used as a diagnostic tool to differentiate sickle cell
from normal hemoglobin. A PowerPoint presentation, training document and TEKS
reference is included in the materials posted.
http://www.panam.edu/dept/biotech/modules.html
Local support groups:
Lone Star Chapter of the National Hemophilia Foundation
Debbie de la Riva
Executive Director
17414 Fairgrove Park Drive
Houston, Texas 77095
Phone: 281.861.6644
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Texas Gulf Coast Chapter of the Cystic Fibrosis Foundation
50 Briar Hollow Lane
Suite 310W
Houston, TX 77027 (713) 621-0006
Huntington Disease Center BCM - Department of Neurology
6550 Fannin, Suite 1801
Houston, Texas 77030
Phone: (713) 798-7438
Fax: (713) 798-6808
www.jankovic.org
Sickle Cell Association of the Texas Gulf Coast!
2626 South Loop West, Suite 245
Houston, Texas 77054
Phone: 713.666.0300
http://www.sicklecell-texas.org/
Local Contacts/Field Trips:
The following genetic testing clinics are available in the Houston area:
Baylor College of Medicine
Baylor Cancer Genetics Clinic
832-822-4293
Baylor College of Medicine
Prenatal and Reproductive Genetics Clinic
713-798-7500
Center for Medical Genetics
713-790-1990
Dynagene/LabCorp
713-798-9500
UT MD Anderson Cancer Center
Clinical Cancer Genetics Program
713-745-7391
This group encourages and helps sponsor field trips. Call Ann Bettinger at 713-745-1205
for information and help.
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University of Texas – Houston Medical School
Genetics Clinic
713-500-5765
UT Health Science Center at Houston
Women’s Health Center
713-704-5152
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Biotech in the Hospital
Part I. Pharmocogenomics
Pharmocogenomics involves designing the most effective drug therapy and treatment
strategy based on the specific genetic profile of a patient. Different individuals react
differently to the same drug or treatment. It is hoped that genetic studies will lead to
personalized drugs with greater safety and efficacy.
Internet resources:
Human Gene Project Information: Great background and links. (Click for web
snapshot) Page 33
http://www.ornl.gov/sci/techresources/Human_Genome/medicine/pharma.shtml
Roche Company: Links to several publications and free CD from the Roche
Pharmaceuticals Company
http://www.roche.com/home/science/sci_events/sci_events_genes.htm
Pharmaco-What? Introducing Personalized Medicine: Lessons, simulations and
interactive activities on pharmacogenomics
http://gslc.genetics.utah.edu/units/pharma/phwhatis/
Inside Cancer: A wonderful site with multimedia information on the history, causes and
prevention, diagnosis and treatment, and the pathways to cancer. The sections on
pharmacogenetics and targeted therapies have very nice graphic explanations. (Click here
for web snapshot) Page 34
http://www.insidecancer.org
Part II. Gene Therapy
Genes are the basic units of heredity. When one is damaged or missing, genetic disorders
can result. Gene therapy is a technique for correcting defective genes. This can be done
by:
Inserting a normal gene into a nonspecific location
Swapping abnormal gene for normal gene
Repairing abnormal gene
Turning a gene on or off
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Usually, a normal gene is inserted into the genome by a carrier molecule called a vector.
A common vector is a virus whose disease-causing genes have been replaced by
therapeutic genes.
The Food and Drug Administration has not yet approved any human gene therapy
product for sale. All research is still in the experimental stage.
Publications:
Medicines by Design: A very colorful, informative booklet about current and future
pharmacology research. Copies of the brochure can be downloaded or ordered free for
your entire class. (Click here for a list of topics covered) Page 35
http://publications.nigms.nih.gov/medbydesign
Internet resources:
Gene Therapy: Molecular Bandage: Several topics covered, all with graphics and
animations. (Click for web snapshot) Page 36
http://gslc.genetics.utah.edu/units/genetherapy/index.cfm
Human Genome Project Information: Information on gene therapy methods, current
status, recent developments and ethical considerations. (Click for web snapshot) Page 37
http://www.ornl.gov/sci/techresources/Human_Genome/medicine/genetherapy.shtml
National Cancer Institute: Gene Therapy for Cancer -- Questions and Answers
http://www.cancer.gov/cancertopics/factsheet/Therapy/gene
American Society of Gene Therapy: Information and links for interested public and
patients
http://www.asgt.org/
Computer activity:
Space Doctor: An extraterrestrial gene therapy lab simulation (Click to view web
snapshot) Page 26
http://gslc.genetics.utah.edu/units/genetherapy/spacedoctor/
Pus-Poppin’ Frogs: Animated simulation of drug testing based on genetic profiles. Very
user friendly and entertaining.
http://gslc.genetics.utah.edu/units/pharma/phfrogs/
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Part III. Assays and genetic testing devices
Biosensor technology is an exciting area of biotechnology that has direct implications in
the measurement of environmental pollutants and the detection of explosives, toxins and
biowarfare agents. A biosensor is composed of a biological component (cell, enzyme,
antibody, etc) and a tiny transducer. When the substance being tested binds with the
biological component, the transducer produces an electrical or optical signal proportional
to the concentration of the substance.
Many companies now specialize in immunodiagnostics, also referred to as rapid
diagnostics or Hand-held Assays (HHA's). This technology very quickly and effectively
detects proteins, antibodies and/or infectious agents in a variety of formats with accuracy
rates as high as 100%, and within as little as three minutes. A pregnancy test kit is one of
the most familiar medical devices made possible by biotechnology. In a home pregnancy
test kit, a protein called a monoclonal antibody (MAb) binds to HCG, causing a color
change. HCG is present in a woman's urine only during pregnancy. MAb test kits are the
most common type of biotech device regulated by FDA. The agency has cleared for
marketing more than 635 biotech devices to detect infections, hormone levels, drug levels
(therapeutic and illegal), and cancer cells. These devices are also an important tool in
combating bioterrorism and infectious diseases.
Internet resources: Bioterrorism:
Bioterrorism Agents/Diseases from A to Z: Great site for links for information from the
Department of Health and Human Services (Click to view web snapshot) Page 22
http://www.bt.cdc.gov/agent/agentlist-category.asp
NOVA Online—A wonderful web resource that includes information on the eight lethal
biological agents that may pose the greatest threats of biowarfare, answers to frequently
asked questions, a timeline of the history of biological warfare, an online activity about
making vaccines, complete tv presentation, and more. (Click to view web snapshot –
2pages) Page 23,24
http://www.pbs.org/nova/bioterror/
Video: "The History of Bioterrorism": These videos describe the Category A diseases:
smallpox, anthrax, botulism, plague, tularemia, and viral hemorrhagic fevers. If these
germs were used to intentionally infect people, they would cause the most illness and
death. Watch these videos to learn how some of these agents have been or can be used as
bioterrorist weapons.
http://www.bt.cdc.gov/training/historyofbt/
Avian Influenza: This fact sheet provides general information about avian influenza
(bird flu) and information about one type of bird flu, called avian influenza A (H5N1),
which has caused infections in birds in Asia and Europe and in humans in Asia.
http://www.cdc.gov/flu/avian/gen-info/facts.htm
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Virtual tour of a BSL-4 lab: BSL-4 labs are used to study agents that pose a high risk of
life-threatening disease for which no vaccine or therapy is available. Lab personnel are
required to wear full-body, air-supplied suits and to shower when exiting the facility.
UTMB in Galveston has a BSL-4 research lab. It is also a Regional Center of Excellence
for Biodefense and Emerging Infectious Diseases Research (RCE).
http://www3.niaid.nih.gov/Biodefense/Public/blt.htm
The National Institute of Allergy and Infectious Diseases (NIAID), part of the
National Institutes of Health, conducts and supports much of the research aimed at
developing new and improved medical tools against potential bioterrorism agents.
http://www3.niaid.nih.gov/biodefense/about/default.htm
CNN educational Background: 10 things you need to know about anthrax
http://cnnstudentnews.cnn.com/2001/fyi/news/11/02/antrax/index.html
JBAIDS (The Joint Biological Agent Identification and Diagnostic System) developed at
FORT SAM HOUSTON, Texas is a 40-pound device small enough to slip into a
rucksack and designed to increase the speed and accuracy of biological warfare agent
detection. The device can simultaneously identify up to 10 different biological warfare
agents in a given sample, including smallpox, anthrax, plague and encephalitis. (Click to
view web snapshot) Page 21
http://www.defenselink.mil/transformation/articles/2005-05/ta051905a.html
Local Contacts:
UT-Center for Biosecurity and Public Health Preparedness
Jan DuBois, Executive Assistant
1200 Hermann Pressler Drive
Houston, TX 77030
Phone: 713-500-9421
Email: [email protected]
http://www.texasbiosecurity.org/
Center for Biosecurity Informatics Research
UCT-Suite 650, School of Health Information Sciences
University of Texas-Houston Health Science Center
7000 Fannin
Houston, Texas 77030
713-500-3157
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Diagnostic Systems Laboratories, Inc. 445 Medical Center Blvd.,
Webster, TX 77598 USA
+ 1.281.332.9678 tel
1.800.231.7970 toll free
LabCorp Testing Facility, Houston 7207 North Gessner
Houston, TX 77040
Local Telephone 713-856-8288 (Automated)
Regional/National Toll-free Telephone 800-800-2387
Power 3 Medical Products Dick Deabler, Director of HR and Administration
832/466-1600x204
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