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Adults

Adult Family History Form
American Medical Association
2004
www.ama-assn.org/ama1/pub/upload/mm/464/adult_history.pdf
This information may be useful to your doctor prior to an appointment.
Adults with Congenital Heart Disease
American Heart Association
2004
www.americanheart.org/presenter.jhtml?identifier=11062
Adults with congenital heart diseases may have questions relating to employment, insurance, physical activity and childbearing. They must deal with ongoing care needs, treatment, and medical problems.
Alphabetic List of Specific Diseases/Disorders
Karolinska Institute University Library, Stockholm, Sweden
2009
www.mic.ki.se/Diseases/Alphalist.html
Links to free online resources dealing with genetic diseases and birth defects.
Alzheimer Disease
Genetics Home Reference
2008
ghr.nlm.nih.gov/condition=alzheimerdisease
Alzheimer's Disease
Lab Tests Online
2005
www.labtestsonline.org/understanding/conditions/alzheimers.html
Alzheimer's Disease
Dolan DNA Learning Center, Cold Spring Harbor Laboratory
2002
www.ygyh.org/alz/whatisit.htm
Definition, cause, symptoms, treatment, incidence, testing, screening and much more.
Alzheimer's Disease Genetics Fact Sheet
Alzheimer's Disease Education & Referral Center/National Institute on Aging
2009
www.nia.nih.gov/Alzheimers/Publications/geneticsfs.htm
.
ApoE Genotyping
Lab Tests Online
2005
www.labtestsonline.org/understanding/analytes/apoe/test.html
Sometimes used as an adjunct test to help in the diagnosis of probable late onset Alzheimer’s disease (AD) in symptomatic adults.
Atherosclerosis
Genes and Disease, National Center for Biotechnology Information
no date
www.ncbi.nlm.nih.gov/books/bv.fcgi?call=bv.View..ShowSection&rid=gnd.section.141
Attention Deficit Hyperactivity Disorder; ADHD
Online Mendelian Inheritance in Man
2008
www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=143465
Beta Thalassemia
Dolan DNA Learning Center, Cold Spring Harbor Laboratory
2002
www.ygyh.org/thal/whatisit.htm
Definition, cause, symptoms, treatment, incidence, testing, screening and much more.
Beyond Therapy: Biotechnology and the Pursuit of Happiness, Chapter 4: Ageless Bodies
President's Council on Bioethics
2003
www.bioethics.gov/reports/beyondtherapy/chapter4.html
Discusses biotechnology's potential impact on the aging process and societal and ethical concerns of living longer lives.
Beyond Therapy: Biotechnology and the Pursuit of Happiness, Chapter 3: Superior Performance
President's Council on Bioethics
2003
www.bioethics.gov/reports/beyondtherapy/chapter3.html
Ethics and societal implications of using biotechnology to enhance athletic performance.
Beyond Therapy: Biotechnology and the Pursuit of Perfection, Chapter 2: Better Children
President's Council on Bioethics
2003
www.bioethics.gov/reports/beyondtherapy/chapter2.html
Chapter discusses ethical and social issues of so-called designer babies and for drug-enhanced children.
Bietti's Crystalline Dystrophy
National Eye Institute
2008
www.nei.nih.gov/health/biettis/index.asp
Bietti's crystalline dystrophy (BCD) is a rare inherited eye disease that appears to be more common in people with Asian ancestry.
Blazing a Genetic Trail
Howard Hughes Medical Institute
2002
www.hhmi.org/genetictrail/
Explains the genetics of cystic fibrosis and some of the techniques used to isolate the CFTR gene and progress in treating/curing the disease.
Bone Marrow Disorders
Lab Tests Online
2008
www.labtestsonline.org/understanding/conditions/bone_marrow_disorders.html
Laboratory tests for bone marrow disorders, including myeloproliferative and myelodysplastic disorders.
Breast and Ovarian Cancer
National Center for Biotechnology Information
www.ncbi.nlm.nih.gov/books/bv.fcgi?call=bv.View..ShowSection&rid=gnd.section.99
Brief history and recent developments in BRCA1 and BRCA2
Breast Cancer
Lab Tests Online
2008
www.labtestsonline.org/understanding/conditions/breast.html
Laboratory tests that can be performed to diagnose and monitor breast cancer and its treatment, including the tests for the genetic markers of breast cancer..
Can Heart and Blood Vessel Disease Be Inherited?
American Heart Association
www.americanheart.org/presenter.jhtml?identifier=4610
Brief discussion of heredity as a risk factor in blood vessels, heart disease, high blood pressure and stroke.
Cancer Clusters
National Cancer Institute
2006
cis.nci.nih.gov/fact/pdfdraft/3_risk/fs3_58.pdf
Cancer clusters, how they are defined, gene-environment interactions, and cancer risk.
Cancer Facts: DES Questions and Answers
National Cancer Institute
2006
cis.nci.nih.gov/fact/pdfdraft/3_risk/fs3_4.pdf
Diethylstilbestrol has been linked to an uncommon cancer (clear cell adenocarcinoma) of the vagina or cervix in a small number of daughters of women who used DES. Women who used DES and may have a slightly increased risk of breast cancer.
CancerQuest
Emory University
2009
www.cancerquest.org
Website is designed so those without a biology background can understand basic concepts in tumor biology. Well-written and illustrated, good explanation of cell structure, DNA, RNA, and proteins, cell division, and genetic change before covering cancer genes, tumor biology, treatment, research and clinical trials.
Center for Genetics and Society
Center for Genetics and Society
No date
www.genetics-and-society.org/index.asp
Nonprofit information and public affairs organization working to encourage responsible uses and effective societal governance of the new human genetic and reproductive technologies. 
Chemistry and Biology: Partners in Decoding the Genome
National Human Genome Research Institute
2004
www.genome.gov/11008534
Webcast Symposium highlighted the National Institutes of Health (NIH) and the larger biomedical research community's scientific insights resulting from the application of modern chemical approaches to the study of important problems in biology and genomics
Chromosome Abnormalities
National Human Genome Research Institute
2004
www.genome.gov/11508982
Focuses on the types of chromosomal abnormalities, numerical and structural.
Chronic Myeloid Leukemia
Genes and Disease, National Center for Biotechnology Information
no date
www.ncbi.nlm.nih.gov/books/bv.fcgi?call=bv.View..ShowSection&rid=gnd.section.101
Chronic myeloid leukemia or CML, usually diagnosed by finding a chromosomal abnormality called the Philadelphia chromosome, the result of a translocation between the long arms of chromosomes 9 and 22, which brings together two genes, BCR and the ABL proto-oncogene.
Colon Cancer
Lab Tests Online
2002
www.labtestsonline.org/understanding/conditions/colon.html
Laboratory tests for colon cancer.
Council for Responsible Genetics
Council for Responsible Genetics
2004
www.gene-watch.org/index.html
Advances the public interest in biotechnology and genetics social, ethical and environmental consequences.
Cystic Fibrosis
Lab Tests Online
2009
www.labtestsonline.org/understanding/conditions/cystic_fibrosis.html
Laboratory tests for cystic fibrosis.
Cystic Fibrosis
Dolan DNA Learning Center, Cold Spring Harbor Laboratory
2002
www.ygyh.org/cf/whatisit.htm
Definition, cause, symptoms, treatment, incidence, testing, screening and much more.
Cytogenetics and Chromosome Analysis
Lab Tests Online
2005
www.labtestsonline.org/understanding/features/genetics-8.html
Cytotechnologists look at slide preparations of chromosomes to determine if there are extra chromosomes or if parts of the chromosomes are missing or rearranged.
Audience: parents and adults not physicians
Dictionary of Genetic Terms
Dept of Energy Human Genome Project
2007
www.ornl.gov/sci/techresources/Human_Genome/publicat/primer2001/glossary.shtml
Direct to Consumer Marketing consumer Alert by the Federal Trade Commission
Secretary's Advisory Committee on Genetics, Health, and Society (SACGHS)
2006
oba.od.nih.gov/oba/sacghs/reports/DTC_Consumer_Alert_Jul06.pdf
FTC guide to at-home genetic testing.
DNA Forensics
Human Genome Project
2008
www.ornl.gov/sci/techresources/Human_Genome/elsi/forensics.shtml
A guide to resources on DNA topics.
Do You Have Cancer in Your Family?
Pacific Northwest Regional Genetics Group
2007
mchneighborhood.ichp.edu/pacnorgg/media/CANCER.pdf
This brochure answers some basic questions about inherited cancers and genetic testing.
Down Syndrome
Dolan DNA Learning Center, Cold Spring Harbor Laboratory
2002
www.ygyh.org/ds/whatisit.htm
Definition, cause, symptoms, treatment, incidence, testing, screening and much more.
Duchenne/Becker Muscular Dystrophy
Dolan DNA Learning Center, Cold Spring Harbor Laboratory
2002
www.ygyh.org/dmd/whatisit.htm
Definition, cause, symptoms, treatment, incidence, testing, screening and much more.
Ethical, Legal and Social Implications (ELSI) Research Program
National Human Genome Research Institute
2009
www.nhgri.nih.gov/10001618
The ELSI Program was established in 1990 by the architects of the Human Genome Project to anticipate and address the ethical, legal and social issues that arise as the result of human genetic research. This website provides information on the history of ELSI, the kinds of issues and activities in which ELSI is involved, ELSI research and education opportunities at the NHGRI and other related publications and resources.
Ethical, Legal, and Social Issues
U.S. Department of Energy, Human Genome Program
2008
www.ornl.gov/sci/techresources/Human_Genome/elsi/elsi.shtml
Societal concerns about the uses of genetic information from the Human Genome Project.
Evaluating Gene Tests
Human Genome Project
2008
www.ornl.gov/sci/techresources/Human_Genome/resource/testeval.shtml
Considerations include test quality, the potential usefulness of the information the test provides, available preventive or treatment options, and social issues.
Exploring Genetic Issues Relevant to Minorities
Oak Ridge National Laboratory, Human Genome Management Information System
2003
www.ornl.gov/sci/techresources/Human_Genome/publicat/MinorityConcerns-82.pdf
Two page PDF file describing Department of Energy (DOE) Minority Projects, and a list of 13 issues and benefits for minorities emanating from the Human Genome Project. sponsored by the Human Genome Program of the U.S. Department of Energy. Includes "more information on the web" section.
Fact Sheet on Genetic Testing for Breast and Ovarian Cancer Susceptibility
Centers for Disease Control
2007
www.cdc.gov/genomics/training/perspectives/breastcancer.htm
Genetic testing for hereditary susceptibility for breast and ovarian cancer is the first genetic test to be marketed directly to consumers. This explains the background of the testing and provides decision making support.
Familial Testicular Cancer
National Cancer Institute
familial-testicular-cancer.cancer.gov/index.html
Familial testicular cancer is rare. It is estimated to account for 1-3% of all testicular cancers.
Family History of Alcoholism: Are You at Risk?
National Institute on Alcohol Abuse and Alcoholism
2005
pubs.niaaa.nih.gov/publications/FamilyHistory/Family%20History.pdf
Discusses risk factors of those who have relatives who are alcoholics.
Family History Tree
American Heart Association
www.americanheart.org/downloadable/heart/1225923292741HOD%20Family%20Tree.pdf
A free registration site that allows you to construct and maintain your family medical history. Allows you to send an e-card to family members when you need information from them.
FAQs about Genetic Counselors and the NSGC
National Society of Genetic Counseling
2009
www.nsgc.org/about/faq.cfm
Frequently Asked Questions about Genetic Counselors and the National Society of Genetic Counselors.
Find a Genetic Counselor
National Society of Genetic Counselors
2009
www.nsgc.org/resourcelink.cfm
Assists consumers in locating genetic counselors. Genetic Counselors can be searched by State, City, Counselor's Name, Institution or Areas of Practice or Specialization.
Frequently Asked Questions (About Stem Cells)
National Institutes of Health
2009
stemcells.nih.gov/info/faqs.asp
Gene Testing
Human Genome Project
2003
www.ornl.gov/sci/techresources/Human_Genome/medicine/genetest.shtml
Gene tests involve direct examination of the DNA molecule.
Gene Therapy
Human Genome Project
2009
www.ornl.gov/sci/techresources/Human_Genome/medicine/genetherapy.shtml
What is gene therapy?
Gene Therapy
American Medical Association
2009
www.ama-ashttp://www.ama-assn.org/ama/pub/physician-resources/medical-science/genetics-molecular-medicine/current-topics/gene-therapy.shtmlsn.org/ama/pub/category/8432.html
Addresses how gene therapy works, what diseases could be treated, has gene therapy been successfully used in humans, and can genetic alterations from gene therapy be passed on to children?
Mostly for public
Gene Therapy for Cancer: Questions and Answers
National Cancer Institute
2006
www.cancer.gov/cancertopics/factsheet/Therapy/Gene
Frequently asked questions about gene therapy for cancer.
Gene-Environment Interaction Fact Sheet
Centers for Disease Control
2007
/www.cdc.gov/genomics/training/perspectives/factshts/geneenviro.htm
Almost all human diseases result from the interaction of genetic susceptibility factors and modifiable environmental factors, which include infectious, chemical, physical, nutritional, and behavioral factors.
Genetic Discrimination in Health Insurance or Employment 
National Human Research Genome Institute
2009
www.genome.gov/11510227
Links to federal policy, federal legislation, state legislation.
Genetic Disease Information --pronto!
Human Genome Project
2008
www.ornl.gov/sci/techresources/Human_Genome/medicine/assist.shtml
Basics of Genetic Disorders
Genetic Information Non-Discrimination Act of 2003 (S.1053)(Summary)
National Human Genome Research Institute
2008
www.genome.gov/11508845
On October 14, 2003, the U.S. Senate (95-0) passed the Genetic Information Non-Discrimination Act of 2003 (S.1053), prohibiting discrimination on the basis of genetic information in health insurance and the workplace. The U.S. House of Representatives is now considering this legislation (as of 9/04).
Genetic Privacy and Legislation
Human Genome Program, Office of Biological and Environmental Research, U.S. Department of Energy
2008
www.ornl.gov/sci/techresources/Human_Genome/elsi/legislat.shtml
Genetic Testing for BRCA1 and BRCA2: It's Your Choice
National Cancer Institute
2002
cis.nci.nih.gov/fact/3_62.htm
Pros and cons of getting tested, possible outcomes positive, negative, ambiguous, strategies for dealing with a positive test, genetic discrimination.
Genetic Tools and Techniques
MicrobeWorld, American Society for Microbiology
2006
www.microbeworld.org/microbes/tools.aspx
Basic, illustrated explanations of polymerase chain reaction, gene sequencing, and DNA microarrays or "gene chips."
Lay persons
Genetically Modified Foods and Organisms
Human Genome Project
2008
www.ornl.gov/sci/techresources/Human_Genome/elsi/gmfood.shtml
Although "biotechnology" and "genetic modification" commonly are used interchangeably, GM is a special set of technologies that alter the genetic makeup of such living organisms as animals, plants, or bacteria. Biotechnology, a more general term, refers to using living organisms or their components, such as enzymes, to make products that include wine, cheese, beer, and yogurt. Combining genes from different organisms is known as recombinant DNA technology, and the resulting organism is said to be "genetically modified," "genetically engineered," or "transgenic." GM products (current or in the pipeline) include medicines and vaccines, foods and food ingredients, feeds, and fibers.
Genetics Home Reference: What is Gene Therapy?
National Library of Medicine
2009
ghr.nlm.nih.gov/info=gene_therapy;jsessionid=78602A39A2CCD0F57249CBC88C8E22D4?section=toc
Genetics 101: DNA Mutations
GeneticHealth
2001
www.genetichealth.com/G101_Changes_in_DNA.shtml
Describes point, frame-shift, deletion, insertion, inversion, and expression mutations.
Genetics and Cancer
People Living with Cancer, American Society of Clinical Oncologists
2005
www.cancer.net/patient/ASCO+Resources/Ask+the+ASCO+Expert+Series/2005+Transcripts/Genetics+and+Cancer
Introduction to the role genes and genetics play in cancer.
Genetics Disorders Library
Genetic Science Learning Center, University of Utah
2009
learn.genetics.utah.edu/content/disorders/whataregd/
Abnormalities can range from a small mutation in a single gene to the addition or subtraction of an entire chromosome or set of chromosomes. To learn more about different genetic disorders, browse through the Genetic Disorder Library.
Genetics Home Reference
National Library of Medicine
2009
ghr.nlm.nih.gov/ghr/page/Home
The National Library of Medicine's web site for consumer information about genetic conditions and the genes responsible for those conditions.
Genetics Home Reference: Bladder Cancer
National Library of Medicine
2007
ghr.nlm.nih.gov/condition=bladdercancer;jsessionid=BFD0EC2D5B523E1B153EAF7AA079D471
Brief description of the genetics of bladder cancer. Increased risk associated with mutations in RB1 gene. Associated with bladder cancer FGFR3, HRAS, and TP53 genes.
Genetics Home Reference: Breast Cancer
National Library of Medicine
2007
ghr.nlm.nih.gov/condition=breastcancer;jsessionid=BFD0EC2D5B523E1B153EAF7AA079D471
Genetics of breast cancer, increased risk from ATM, BRCA1, BRCA2, and RAD51 genes. Breast Cancer associated with ARHI and ERBB2 genes.
Genetics Home Reference: Genetic Consultation
National Library of Medicine
ghr.nlm.nih.gov/info=consultation;jsessionid=78602A39A2CCD0F57249CBC88C8E22D4?section=toc
Genetics Home Reference: Genetic Testing
National Library of Medicine
ghr.nlm.nih.gov/info=genetic_testing;jsessionid=78602A39A2CCD0F57249CBC88C8E22D4?section=toc
Genetics Home Reference: Help Me Understand Genetics
Understanding Gene Testing
ghr.nlm.nih.gov/info=understandGenetics;jsessionid=78602A39A2CCD0F57249CBC88C8E22D4
Basic introduction to genetics, genes and how they work, genetic disorders, genetic consultation, genetic testing, gene therapy, and the Human Genome Project and Genomic Research.
Genetics Home Reference: Human Genome Project and Genomic Research
National Library of Medicine
2009
ghr.nlm.nih.gov/info=genomic_research;jsessionid=78602A39A2CCD0F57249CBC88C8E22D4?section=toc
Genetics Home Reference: Retinoblastoma
National Library of Medicine
2005
ghr.nlm.nih.gov/condition=retinoblastoma;jsessionid=BFD0EC2D5B523E1B153EAF7AA079D471
Genetics Home Reference: Sickle Cell Anemia
National Library of Medicine
2007
ghr.nlm.nih.gov/condition=sicklecellanemia
Genetics of Diabetes
American Diabetes Association
www.diabetes.org/genetics.jsp
Type 1 and Type 2 diabetes risk, and your child's Type 1 and Type 2 diabetes risks, discussion on what "risk" means, and section on whether or not one should consider joining a study.
Genome News Network
Center for the Advancement of Genomics (TCAG)
Every other week
www.genomenewsnetwork.org
Online magazine published by the Center for the Advancement of Genomics (TCAG), and published on a biweekly basis. Covers human medicine, agriculture, microbes, biotechnology.
Genome Variations
Genome News Network
2003
www.genomenewsnetwork.org/resources/whats_a_genome/Chp4_1.shtml
Genome variations include mutations (if less than 1% of the people have it) and polymorphisms (1% or more of the people have the variation). About 90% of human genome variation come from single nucleotide polymorphisms (SNPs pronounced "snips") involving just one nucleotide (A,T,G or C).
Glosario de Términos Genéticos
National Human Genome Research Institute
No Date
www.genome.gov/sglossary.cfm
Glosario hablado de términos de genética para ayudar a las personas que no tienen conocimientos científicos a entender los términos y conceptos utilizados en la investigación en genética.
Hemochromatosis
Dolan DNA Learning Center, Cold Spring Harbor Laboratory
2002
www.ygyh.org/hc/whatisit.htm
Definition, cause, symptoms, treatment, incidence, testing, screening and much more.
Hemochromatosis
Lab Tests Online
2006
www.labtestsonline.org/understanding/conditions/hemochrom.html
Laboratory tests for hemochromatosis.
Hemophilia
Dolan DNA Learning Center, Cold Spring Harbor Laboratory
2002
www.ygyh.org/hemo/whatisit.htm
Definition, cause, symptoms, treatment, incidence, testing, screening and much more.
Hemophilia Treatment Centers
National Center on Birth Defects and Developmental Disabilities, Hereditary Blood Disorders
2005
www.cdc.gov/ncbddd/hbd/htc_list.htm
Centers for Disease Control (CDC) supports a network of specialized health-care centers to prevent and reduce complications experienced by persons with certain hereditary blood disorders. Hemophilia is an inherited bleeding disorder that affects 18,000 persons (primarily males) in the United States. The most common bleeding disorder is von Willebrand disease (vWD), which is found in approximately 1-2% of the U.S. population.
Hemostasis and Thrombosis Centers
Centers for Disease Control
2005
www.cdc.gov/ncbddd/hbd/thromb_center_list.htm
Treatment center directory for hereditary hemostatis and thrombosis.
How Does Gene Therapy Work?
American Cancer Society
2007
www.cancer.org/docroot/ETO/content/ETO_1_4X_How_Does_Gene_Therapy_Work.asp
Gene therapy can be used to treat cancer.
Huntington's Disease
Dolan DNA Learning Center, Cold Spring Harbor Laboratory
2002
www.ygyh.org/hd/whatisit.htm
Definition, cause, symptoms, treatment, incidence, testing, screening and much more.
Identity Testing
Lab Tests Online
2005
www.labtestsonline.org/understanding/features/genetics-5.html
Identity testing focuses on the identification of an individual through the analysis of either nuclear or mitochondrial DNA extracted from some material: blood, tissue, hair, bone, etc. Any material that contains cells with nuclei can be used for nuclear DNA extraction and eventual identity testing. This process is used for criminal investigations, to identify remains that cannot be identified by normal means, and establishing relationships such as parentage.
Illustrated Glossary
GeneTests
2009
www.genetests.org/servlet/access?qry=ALLTERMS&db=genestar&fcn=term>report2=true&id=8888891&key=jp8mdIjNWhdil
Infectious Disease Testing
Lab Tests Online
2005
www.labtestsonline.org/understanding/features/genetics-9.html
Inheritable Genetic Modification (IGM)
Center for Genetics and Society
2009
www.genetics-and-society.org/technologies/igm/index.html
The basic science behind inheritable genetic modification, arguments for and against, and frequently asked questions.
Inherited Colorectal Cancer Registries
American Society of Colon and Rectal Surgeons
2009
www.fascrs.org/patients/family_history_registries/
Links to registries across the United States.
Is Pancreatic Cancer Hereditary?
Johns Hopkins Pathology
2009
pathology.jhu.edu/pancreas/BasicHeredity.php?area=ba
It has been estimated that ten percent of pancreatic cancers are hereditary. Many of these occur as part of rare medical syndromes.
Lab Tests Online
American Association for Clinical Chemistry
2009
www.labtestsonline.org
Lab Tests Online has been designed to help patients to better understand clinical lab tests that are part of routine care as well as diagnosis and treatment.
Largest-Ever Search for Autism Genes Reveals New Clues
National Institute of Child Health & Human Development
2007
www.nichd.nih.gov/news/releases/autism_gene_reveals_clues.cfm
Learning About Breast Cancer
National Human Genome Research Institute
2009
www.genome.gov/10000507
Short review on heredity of breast cancer and testing. Features links to other sites and links to current research at the National Human Genome Research Institute.
Learning About Colon Cancer
National Human Genome Research Institute
2009
www.genome.gov/10000466
Majority of colon cancers are not hereditary. Several genes are involved with familial adenomatous polyposis (FAP) and hereditary nonpolyposis colorectal cancer (HNPCC). Limitations of testing for hereditary colon cancer.
Learning About Prostate Cancer
National Human Genome Research Institute
2009
www.genome.gov/10003559
Brief description about prostate cancer and links to National Human Genome Research Institute research.
Learning About Skin Cancer
National Human Genome Research Institute
2009
/www.genome.gov/10000184
Leukemia
Lab Tests Online
2006
www.labtestsonline.org/understanding/conditions/leukemia.html
Laboratory tests for leukemia.
Location of Potential Familial Lung Cancer Gene Discovered
National Cancer Institute
2004
www.nci.nih.gov/newscenter/pressreleases/lungcancerlocus
Looking at My Genes: What Can They Tell Me?
National Institute of Mental Health
2008
www.nimh.nih.gov/health/publications/looking-at-my-genes-what-can-they-tell-me/index.shtml
Frequently Asked Questions About Genome Scans and Genetic Testing
Lymphoma
Lab Tests Online
2007
www.labtestsonline.org/understanding/conditions/lymphoma.html
Laboratory tests for lymphoma.
Malignant Melanoma
Genes and Disease, National Center for Biotechnology Information
no date
www.ncbi.nlm.nih.gov/books/bv.fcgi?call=bv.View..ShowSection&rid=gnd.section.104
Marfan Syndrome
Dolan DNA Learning Center, Cold Spring Harbor Laboratory
2002
www.ygyh.org/marfan/whatisit.htm
Definition, cause, symptoms, treatment, incidence, testing, screening and much more.
Medicine and the New Genetics
Human Genome Project Information
2008
www.ornl.gov/sci/techresources/Human_Genome/medicine/medicine.shtml
Genetics is playing an increasingly important role in the diagnosis, monitoring, and treatment of diseases.
MedlinePlus: Charcot-Marie-Tooth Syndrome
National Library of Medicine
www.nlm.nih.gov/medlineplus/charcotmarietoothdisease.html
MedlinePlus: Cloning
National Library of Medicine
www.nlm.nih.gov/medlineplus/cloning.html
MedlinePlus: Ehlers-Danlos Syndrome
National Library of Medicine
www.nlm.nih.gov/medlineplus/ehlersdanlossyndrome.html
MedlinePlus: Fragile X Syndrome
National Library of Medicine
www.nlm.nih.gov/medlineplus/fragilexsyndrome.html
MedlinePlus: Gaucher's Disease
National Library of Medicine
www.nlm.nih.gov/medlineplus/gauchersdisease.html
MedlinePlus: Genetic Brain Disorders
National Library of Medicine
www.nlm.nih.gov/medlineplus/geneticbraindisorders.html
MedlinePlus: Huntington's Disease
National Library of Medicine
www.nlm.nih.gov/medlineplus/huntingtonsdisease.html
Huntington's disease (HD) results from genetically programmed degeneration of brain cells, called neurons, in certain areas of the brain. This degeneration causes uncontrolled movements, loss of intellectual faculties, and emotional disturbance.
MedlinePlus: Metabolic Disorders
National Library of Medicine
www.nlm.nih.gov/medlineplus/metabolicdisorders.html
MedlinePlus: Muscular Dystrophy
National Library of Medicine
www.nlm.nih.gov/medlineplus/musculardystrophy.html
The muscular dystrophies (MD) are a group of genetic diseases characterized by progressive weakness and degeneration of the skeletal muscles which control movement. There are many forms of muscular dystrophy, some noticeable at birth (congenital muscular dystrophy), others in adolescence (Becker MD), but the 3 most common types are Duchenne, facioscapulohumeral, and myotonic.
MedlinePlus: Neurofibromatosis
National Library of Medicine
www.nlm.nih.gov/medlineplus/neurofibromatosis.html
The neurofibromatoses are genetic disorders of the nervous system that primarily affect the development and growth of neural (nerve) cell tissues. These disorders cause tumors to grow on nerves and produce other abnormalities such as skin changes and bone deformities.
MedlinePlus: Osteogenesis Imperfecta
National Library of Medicine
www.nlm.nih.gov/medlineplus/osteogenesisimperfecta.html
MedlinePlus: Prader-Willi Syndrome
National Library of Medicine
www.nlm.nih.gov/medlineplus/praderwillisyndrome.html
PWS is a complex genetic disorder that typically causes low muscle tone, short stature, incomplete sexual development, cognitive disabilities, problem behaviors, and a chronic feeling of hunger that can lead to excessive eating and life-threatening obesity.
MedlinePlus: Spinal Muscular Atrophy
National Library of Medicine
www.nlm.nih.gov/medlineplus/spinalmuscularatrophy.html
Spinal muscular atrophy (SMA) is a genetic, motor neuron disease caused by progressive degeneration of motor neurons in the spinal cord. The disorder causes weakness and wasting of the voluntary muscles.
MedlinePlus: Tourette Syndrome
National Library of Medicine
www.nlm.nih.gov/medlineplus/tourettesyndrome.html
Tourette syndrome (TS) is an inherited, neurological disorder characterized by multiple involuntary movements and uncontrollable vocalizations called tics that come and go over years. In a few cases, such tics can include inappropriate words and phrases.
MedlinePlus: Tuberous Sclerosis
National Library of Medicine
www.nlm.nih.gov/medlineplus/tuberoussclerosis.html
A multi-system genetic disease that causes benign tumors to grow in the brain and on other vital organs such as the kidneys, heart, eyes, lungs, and skin.
MedlinePlus: Turner's Syndrome
National Library of Medicine
www.nlm.nih.gov/medlineplus/turnerssyndrome.html
Turner syndrome is a chromosomal condition that exclusively affects girls and women. It occurs when one of the two X chromosomes normally found in females is missing or incomplete.
MedlinePlus: Wilson's Disease
National Library of Medicine
www.nlm.nih.gov/medlineplus/wilsonsdisease.html
Wilson's disease is an inherited disorder in which excessive amounts of copper accumulate in the body.
My Family Health Portrait Download
US Dept of Health & Human Services
familyhistory.hhs.gov/fhh-web/home.action
Download the free My Family Health Portrait software.
National Cooperative Study of Hereditary Prostate Cancer in African-Americans
National Human Genome Research Institute
2009
www.genome.gov/10002040
healthcare professionals
Neurofibromatosis
Dolan DNA Learning Center, Cold Spring Harbor Laboratory
2002
www.ygyh.org/nf/whatisit.htm
Definition, cause, symptoms, treatment, incidence, testing, screening and much more.
Nova Online: Cracking the Code of Life
Nova, Produced by WGBH for PBS
2001
www.pbs.org/wgbh/nova/genome
he companion Web site to "Cracking the Code of Life," originally broadcast on April 17, 2001.
Oncogenes and Tumor Suppressor Genes
American Cancer Society
2005
www.cancer.org/docroot/ETO/content/ETO_1_4x_oncogenes_and_tumor_suppressor_genes.asp
Oncogenes are mutated forms of genes that cause normal cells to grow out of control and become cancer cells. Tumor suppressor genes are normal genes that slow down cell division, repair DNA mistakes, and tell cells when to die (a process known as apoptosis or programmed cell death). When tumor suppressor genes don't work properly, cells can grow out of control, which can lead to cancer.
Online Genetics Resources for Consumers
American Society of Human Genetics
www.ashg.org/education/consumers.shtml
Ovarian Cancer
Lab Tests Online
2005
www.labtestsonline.org/understanding/conditions/ovarian.html
Tests used in the diagnosis of ovarian cancer, including the genetic mutation that causes a susceptibility to cancer.
Pancreatic Cancer
Genes and Disease, National Center for Biotechnology Information
no date
www.ncbi.nlm.nih.gov/books/bv.fcgi?call=bv.View..ShowSection&rid=gnd.section.108
A high percentage of human pancreatic carcinomas involve chromosome 18.
Parentage Testing
Lab Tests Online
2005
www.labtestsonline.org/understanding/features/genetics-6.html
Paternity Testing
Sumanas, Inc.
2003
www.sumanasinc.com/webcontent/anisamples/dynamicillustrations/paternitytesting.html
Illustrated animated tutorial on how paternity testing is done.
Pharmacogenomics
Human Genome Project
2008
www.ornl.gov/sci/techresources/Human_Genome/medicine/pharma.shtml
Definition, benefits, use, barriers to Pharmacogenomics.
PKU
Dolan DNA Learning Center, Cold Spring Harbor Laboratory
2002
www.ygyh.org/pku/whatisit.htm
Definition, cause, symptoms, treatment, incidence, testing, screening and much more.
Policy and Ethics
National Human Genome Research Institute
2008
www.genome.gov/PolicyEthics/
Privacy and discrimination, legal, health, social, cultural, religious, biomedical research issues
Polycystic Kidney Disease
Dolan DNA Learning Center, Cold Spring Harbor Laboratory
2002
www.ygyh.org/pkd/whatisit.htm
Definition, cause, symptoms, treatment, incidence, testing, screening and much more.
President's Council on Bioethics
President's Council on Bioethics
bioethics.gov/
The Commission advises the President on bioethical issues that may emerge as a consequence of advances in biomedical science and technology.
PSEN1 Test
Lab Tests Online
2006
www.labtestsonline.org/understanding/analytes/psen1/test.html
Screens for a rare mutation known to be associated with Early Onset Familial Alzheimer's Disease. Links to the test "at a glance." To access more information click on the tabs Test Sample, The Test, Common questions.
Pulmonary Arterial Hypertension
Genetics Home Reference
2007
ghr.nlm.nih.gov/condition=primarypulmonaryhypertension
Primary pulmonary hypertension is a progressive disorder characterized by abnormally high blood pressure (hypertension) in the arteries of the lungs (pulmonary arteries).
Reproduction and Responsibility, Chapter 4: Modification of Traits and Characteristics
President's Council on Bioethics
2004
www.bioethics.gov/reports/reproductionandresponsibility/chapter4.html
The chapter reviews the relevant techniques and practices, addresses ethical considerations, considers the existing regulatory activities.
Reproduction and Responsibility, Chapter 4: Research Involving In Vitro Human Embryos
President's Council on Bioethics
2004
www.bioethics.gov/reports/reproductionandresponsibility/chapter5.html
The chapter reviews the relevant techniques and practices, addresses ethical considerations, considers the existing regulatory activities.
Reproduction and Responsibility, Chapter 6: Commerce
President's Council on Bioethics
2004
www.bioethics.gov/reports/reproductionandresponsibility/chapter6.html
Chapter discusses commerce involving gametes and embryos, ART services, and the patenting of human organisms.
Reproduction and Responsibility: The Regulation of New Biotechnologies
President's Council on Bioethics
2004
www.bioethics.gov/reports/reproductionandresponsibility/index.html
Regulation of biotechnology at the intersection of assisted reproduction, human genetics, and embryo research.
Reproductive Cloning
Center for Genetics and Society
2009
www.ama-assn.org/ama/pub/physician-resources/medical-science/genetics-molecular-medicine/related-policy-topics/stem-cell-research/human-cloning.shtml
The basic science behind cloning, arguments for and against, and frequently asked questions.
Retinoblastoma
Genes and Disease, National Center for Biotechnology Information
No date
www.ncbi.nlm.nih.gov/books/bv.fcgi?call=bv.View..ShowSection&rid=gnd.section.112
Risk Factors (Heart Disease and Stroke)
National Heart Lung and Blood Institute
www.nhlbi.nih.gov/hbp/hbp/hdrf.htm
Science Primer: Systematics and Molecular Phylogenetics
National Center for Biotechnology Information
2004
www.ncbi.nlm.nih.gov/About/primer/phylo.html
Phylogenetics deals with identifying and understanding the evolutionary relationships among species.
Should You Be Tested for Breast Cancer Genes? Genetic Counselor Answers Common Questions
American Cancer Society
2004
www.cancer.org/docroot/NWS/content/NWS_2_1x_Should_You_Be_Tested_for_Breast_Cancer_Genes.asp
Sickle Cell Anemia
Lab Tests Online
2006
www.labtestsonline.org/understanding/conditions/sickle.html
Sickle Cell Disease
Dolan DNA Learning Center, Cold Spring Harbor Laboratory
2002
www.ygyh.org/sickle/whatisit.htm
Definition, cause, symptoms, treatment, incidence, testing, screening and much more.
Sickle Cell Test
Lab Tests Online
2006
www.labtestsonline.org/understanding/analytes/sickle/glance.html
Small Cell Lung Carcinoma
Genes and Disease, National Center for Biotechnology Information
no date
www.ncbi.nlm.nih.gov/books/bv.fcgi?call=bv.View..ShowSection&rid=gnd.section.103
Deletion of part of chromosome 3.
SNP Fact Sheet
Human Genome Project
2008
www.ornl.gov/sci/techresources/Human_Genome/faq/snps.shtml
What are SNPs?
Systemic Lupus Erythematosus
Lab Tests Online
2004
www.labtestsonline.org/understanding/conditions/lupus.html
Laboratory tests for lupus.
Talking Glossary of Genetic Terms
National Human Genome Research Institute
www.genome.gov/10002096
The National Human Genome Research Institute (NHGRI) created the Talking Glossary of Genetic Terms to help people without scientific backgrounds understand the terms and concepts used in genetic research. Simply click on the term of interest to open a page with a wealth of information, including the term's pronunciation, audio information, images and additional links to related terms. Students, teachers and parents will find the glossary an easy-to-use, always available learning source on genetics.
Tau/AB42 Tests
Lab Tests Online
2004
www.labtestsonline.org/understanding/analytes/tau/test.html
Tests for Tau protein and Aß42 may be used as supplemental tests to help establish a diagnosis of Alzheimer's Disease.
Tay-Sachs Disease
Dolan DNA Learning Center, Cold Spring Harbor Laboratory
2002
www.ygyh.org/tay/whatisit.htm
Definition, cause, symptoms, treatment, incidence, testing, screening and much more.
Thalassemia
LabTests Online
2007
www.labtestsonline.org/understanding/conditions/thalassemia.html
Thalassemia is a group of inherited disorders that affect the amount and type of hemoglobin a person produces. It is a type of anemia.
Thalassemia Care Centers
National Center on Birth Defects and Developmental Disabilities, Hereditary Blood Disorders
2005
www.cdc.gov/ncbddd/hbd/thal_center_list.htm
Centers for Disease Control (CDC) supports a network of specialized health-care centers to prevent and reduce complications experienced by persons with certain hereditary blood disorders. Thalassemia is a group of genetic blood disorders that affect approximately 1,000 individuals in the United States. The most severe of these disorders is Cooley's Anemia.
Tissue Typing for Transplantation
Lab Tests Online
2005
www.labtestsonline.org/understanding/features/genetics-7.html
Understanding Cancer Series: Gene Testing
National Cancer Institute
2006
www.cancer.gov/cancertopics/understandingcancer/genetesting
40 "slide" presentation on the basics of gene testing. Slides 1-8 cover basic information on genes, slides 9-18 mutation, inheritance, slides 19-40 gene testing, benefits, limitations, decision making, confidentiality, psychological concerns, genetic counselor.
Universe of Genetic Testing
Lab Tests Online
2005
www.labtestsonline.org/understanding/features/genetics.html
Universe of Genetic Testing: The Future
Lab Tests Online
2005
www.labtestsonline.org/understanding/features/genetics-11.html
Usher Syndrome
National Eye Institute
www.ushersyndrome.nih.gov/
Researchers have described three types of Usher syndrome-type I, type II and type III.
What Causes Pancreatic Cancer?
Johns Hopkins Pathology
pathology.jhu.edu/pancreas/BasicCauses.php?area=ba
Your Genes Your Health
Dolan DNA Learning Center
yourgenesyourhealth.org/
Information on several genetic disorders.