Genetic Disorders (Print Version)

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Genetic Disorders

URL of this page: http://www.nlm.nih.gov/medlineplus/geneticdisorders.html

Latest News

Genetic Defect Linked to Brittle Bone Disease (10/26/2004, Reuters Health) - http://www.nlm.nih.gov/medlineplus/news/fullstory_20872.html (*this news item will not be available after 11/25/2004)

From the National Institutes of Health

Genes and Disease (National Center for Biotechnology Information) - http://www.ncbi.nlm.nih.gov/books/bv.fcgi?call=bv.View..ShowSection&rid;=gnd
Genes and Populations (National Institute of General Medical Sciences) - http://www.nigms.nih.gov/news/science_ed/genepop/
Also available in Spanish - http://www.nigms.nih.gov/news/science_ed/genepop-esp/
Genetics FAQ (National Human Genome Research Institute) - http://www.genome.gov/page.cfm?pageID=10001191
Genetics Home Reference (National Library of Medicine) - http://ghr.nlm.nih.gov/

Overviews

JAMA Patient Page: Genetics (American Medical Association) - http://www.medem.com/medlb/article_detaillb.cfm?article_ID=ZZZZCI25TTC⊂_cat=202
Your Genes, Your Health (Dolan DNA Learning Center) - http://www.yourgenesyourhealth.org/

Anatomy/Physiology

Common Forms of Inheritance (March of Dimes Birth Defects Foundation) - http://www.marchofdimes.com/pnhec/4439_4136.asp
Gene-Environment Interaction Fact Sheet (Centers for Disease Control, Office of Genomics and Disease Prevention) - http://www.cdc.gov/genomics/info/factshts/geneenviro.htm
Late-Appearing Defects (March of Dimes Birth Defects Foundation) - http://www.marchofdimes.com/pnhec/4439_4139.asp
Multifactorial Inheritance (March of Dimes Birth Defects Foundation) - http://www.marchofdimes.com/pnhec/4439_4138.asp

Diagnosis/Symptoms

Genetic Mapping (National Human Genome Research Institute) - http://www.genome.gov/page.cfm?pageID=10000715

Treatment

Gene Transfer (Genetics and Public Policy Center) - http://www.dnapolicy.org/genetics/transfer.jhtml

Clinical Trials

ClinicalTrials.gov: Genetic Diseases, Inborn (National Institutes of Health) - http://clinicaltrials.gov/ct/gui/action/FindCondition?ui=D030342&recruiting;=true

Specific Conditions

Batten Disease (National Institute of Neurological Disorders and Stroke) - http://www.ninds.nih.gov/health_and_medical/pubs/batten_disease.htm
Also available in Spanish - http://www.ninds.nih.gov/health_and_medical/pubs/enfermedad_de_batten.htm
Batten Disease (National Institute of Neurological Disorders and Stroke) - Short Summary - http://www.ninds.nih.gov/health_and_medical/disorders/batten.htm
Bloom's Syndrome (Center for Jewish Genetic Diseases) - http://www.mssm.edu/jewish_genetics/diseases/bloom.shtml
Genetics Home Reference: Genetic Conditions (National Library of Medicine) - http://ghr.nlm.nih.gov/ghr/conditionsByName
Learning about Duane Syndrome (National Human Genome Research Institute) - http://www.genome.gov/11508984
Questions and Answers about Living with Beckwith-Wiedemann Syndrome (National Cancer Institute) - http://cis.nci.nih.gov/fact/3_67.htm
Specific Genetic Disorders (National Human Genome Research Institute) - http://www.genome.gov/page.cfm?pageID=10001204
Triple X Syndrome (Mayo Foundation for Medical Education and Research) - http://www.mayoclinic.com/invoke.cfm?id=AN00351

Prevention/Screening

Amniocentesis (March of Dimes Birth Defects Foundation) - http://www.marchofdimes.com/pnhec/159_520.asp
Also available in Spanish - http://www.nacersano.org/centro/9246_9641.asp
Chorionic Villus Sampling (CVS) (March of Dimes Birth Defects Foundation) - http://www.marchofdimes.com/pnhec/159_521.asp
Also available in Spanish - http://www.nacersano.org/centro/9246_9643.asp
Compiling Your Family Medical History (Mayo Foundation for Medical Education and Research) - http://www.mayoclinic.com/invoke.cfm?id=HQ01707
Facts on Reproductive Genetic Technologies (Genetics and Public Policy Center) - http://www.dnapolicy.org/genetics/facts.jhtml
Layperson's Guide to Tandem Mass Spectrometry and Newborn Screening (Save Babies Through Screening Foundation) - http://www.savebabies.org/NBS/msms-chace.php
Prenatal Genetic Testing (Genetics and Public Policy Center) - http://www.dnapolicy.org/genetics/prenatal.jhtml

Related Issues

Chromosomal Abnormalities (March of Dimes Birth Defects Foundation) - http://www.marchofdimes.com/professionals/681_1209.asp
Introduction to Chromosome Abnormalities (Chromosome Deletion Outreach) - http://www.chromodisorder.org/intro.htm

Research

About the Human Genome Project (National Human Genome Research Institute) - http://www.genome.gov/page.cfm?pageID=10001772
Gene Silencing Tool Leads to New Understanding of Health and Disease (National Institute of General Medical Sciences) - http://www.nigms.nih.gov/news/releases/brief_rnai.html
Research Projects on Chromosomes and Chromosome Disorders (Chromosome Deletion Outreach) - http://www.chromodisorder.org/research.htm
Your Genes, Your Choices: Exploring the Issues Raised by Genetic Research (American Association for the Advancement of Science, Dept. of Energy) - multi-page document - http://ehrweb.aaas.org/ehr/books/index.html

Dictionaries/Glossaries

Dictionary of Genetic Terms (Dept. of Energy, Human Genome Project) - http://www.ornl.gov/sci/techresources/Human_Genome/publicat/primer2001/glossary.shtml
Talking Glossary of Genetic Terms (National Human Genome Research Institute) - Requires media player - http://www.genome.gov/glossary.cfm
Also available in Spanish - http://www.genome.gov/sglossary.cfm

Directories

Genetic and Rare Diseases Information Center (Office of Rare Diseases) - http://rarediseases.info.nih.gov/html/resources/info_cntr.html
Laboratory Directory-GeneReviews (Children's Health Care System, Seattle) - http://www.genetests.org/servlet/access?id=8888891&key;=xW0l31Z2a4hTc&fcn;=y&fw;=XPF9&filename;=/labsearch/searchdztest.html
US Clinic Directory Search (Children's Health Care System, Seattle) - http://www.genetests.org/servlet/access?id=8888891&key;=yLoqrsrCVms-M&fcn;=y&fw;=ZDht&filename;=/clinicsearch/searchclinic.html

Organizations

Center for Jewish Genetic Diseases - http://www.mssm.edu/jewish_genetics/
Centers for Disease Control, Office of Genomics and Disease Prevention - http://www.cdc.gov/genomics/
Chromosome Deletion Outreach - http://www.chromodisorder.org/
Genetic Alliance - http://www.geneticalliance.org/
National Human Genome Research Institute - http://www.genome.gov/
National Institute of Child Health and Human Development - http://www.nichd.nih.gov/
National Institute of Neurological Disorders and Stroke - http://www.ninds.nih.gov/
Save Babies Through Screening Foundation - http://www.savebabies.org/

Newsletters/Print Publications

Genomics & Health Weekly Update (Centers for Disease Control, Office of Genomics and Disease Prevention) - http://www.cdc.gov/genomics/update/current.htm

Law and Policy

Genetics Privacy and Legislation (Dept. of Energy) - http://www.ornl.gov/sci/techresources/Human_Genome/elsi/legislat.shtml
Issues in Genetics and Health (National Human Genome Research Institute) - http://www.genome.gov/page.cfm?pageID=10001740

Women

Genetic Disorders in Pregnancy (American College of Obstetricians and Gynecologists) - http://www.medem.com/MedLB/article_detaillb.cfm?article_ID=ZZZ2JZPN97C⊂_cat=202

Children

Common Problems of Babies with Trisomy 18 or 13 (Support Organization for Trisomy 18, 13, and Related Disorders) - http://www.trisomy.org/html/common_problems.htm
What Is a Pediatric Geneticist? (American Academy of Pediatrics) - Links to PDF File - http://www.aap.org/family/WhatisPedGeneticist.pdf

Teenagers

Basics on Genes and Genetic Disorders (Nemours Foundation) - http://kidshealth.org/teen/your_body/health_basics/genes_genetic_disorders.html
Marfan Syndrome (Nemours Foundation) - http://kidshealth.org/kid/health_problems/birth_defect/marfan.html

You may also be interested in these MedlinePlus related pages:

Birth Defects - http://www.nlm.nih.gov/medlineplus/birthdefects.html
Celiac Disease - http://www.nlm.nih.gov/medlineplus/celiacdisease.html
Cleft Lip and Palate - http://www.nlm.nih.gov/medlineplus/cleftlipandpalate.html
Cystic Fibrosis - http://www.nlm.nih.gov/medlineplus/cysticfibrosis.html
Down Syndrome - http://www.nlm.nih.gov/medlineplus/downsyndrome.html
Fragile X Syndrome - http://www.nlm.nih.gov/medlineplus/fragilexsyndrome.html
Genetic Counseling - http://www.nlm.nih.gov/medlineplus/geneticcounseling.html
Genetic Testing - http://www.nlm.nih.gov/medlineplus/genetictesting.html
Head and Brain Malformations - http://www.nlm.nih.gov/medlineplus/headandbrainmalformations.html
Hemochromatosis - http://www.nlm.nih.gov/medlineplus/hemochromatosis.html
Osteogenesis Imperfecta - http://www.nlm.nih.gov/medlineplus/osteogenesisimperfecta.html
Sickle Cell Anemia - http://www.nlm.nih.gov/medlineplus/sicklecellanemia.html
Genetics/Birth Defects - http://www.nlm.nih.gov/medlineplus/geneticsbirthdefects.html

The primary NIH organization for research on Genetic Disorders is the National Institute of Child Health and Human Development - http://www.nichd.nih.gov/

Page last updated: 05 November 2004
Topic last reviewed: 06 September 2004