Genetic Disorders

Latest News
• Gene Linked to Early Puberty in Girls (03/25/2001, Associated Press)
• Gene Mutation Causes Fever-Related Hair Loss (03/20/2001, Reuters)
• Gene Linked to Schizophrenia (03/19/2001, United Press International)
• More News on Genetic Disorders

General/Overviews

• Description of Leading Birth Defect Categories (March of Dimes Birth Defects Foundation)

Clinical Trials

• ClinicalTrials.gov: Hereditary Diseases (National Institutes of Health)

Diagnosis/Symptoms

• Prenatal Diagnosis: Amniocentesis and CVS (American Academy of Family Physicians)

Pictures/Diagrams

• Genetic Illustrations (National Human Genome Research Institute)

Prevention/Screening

• Newborn Screening Tests (March of Dimes Birth Defects Foundation)

Research

• Division of Birth Defects, Child Development and Disability and Health News (National Center for Environmental Health)
• From Maps to Medicine: About the Human Genome Research Project (National Human Genome Research Institute)
• NIH Scientists Identify Gene for Fatal Childhood Disorder, Niemann-Pick Type C (National Human Genome Research Institute)
• Researchers Find First Gene Linked to Leading Cause of Blindness (Macular Degeneration Foundation)
• Researchers Identify New Genetic Risk Factor for HIV Infection (National Institute of Allergy and Infectious Diseases)

Specific Conditions/Aspects

• Adrenoleukodystrophy (National Institute of Neurological Disorders and Stroke)
• Advances in Understanding the Hermansky-Pudlak Syndrome (National Institute of Child Health and Human Development)
• Alexander Disease (National Institute of Neurological Disorders and Stroke)
• Angelman Syndrome (National Institute of Neurological Disorders and Stroke)
• Background Information: Niemann-Pick Type C1 (NP-C) (National Human Genome Research Institute)
• Batten Disease (National Institute of Neurological Disorders and Stroke)
• Canavan Disease (National Institute of Neurological Disorders and Stroke)
• Chiari Malformation (National Institute of Neurological Disorders and Stroke)
• Coffin Lowry Syndrome (National Institute of Neurological Disorders and Stroke)
• Cystinuria (MedicineNet, Inc.)
• Exploring Therapeutic Options for Wilson's Disease (National Center for Research Resources)
• Facts About Fragile X Syndrome (National Institute of Child Health and Human Development)
• Familial Multiple Endocrine Neoplasia Type I (National Institute of Diabetes and Digestive and Kidney Diseases)
• Frequently Asked Questions About Turner Syndrome (Turner's Syndrome Society of the United States)
• Friedreich's Ataxia (National Institute of Neurological Disorders and Stroke)
• Gaucher's Disease (National Institute of Neurological Disorders and Stroke)
• Genetics of Dystonia (Dystonia Medical Research Foundation)
• Hallervorden-Spatz Disease (National Institute of Neurological Disorders and Stroke)
• Hereditary Spastic Paraplegia (National Institute of Neurological Disorders and Stroke)
• Hypophosphatasia (Osteoporosis and Related Bone Diseases-National Resource Center)
• Introduction to Leukodystrophy (United Leukodystrophy Foundation)
• Lesch-Nyhan Syndrome (National Institute of Neurological Disorders and Stroke)
• Leukodystrophy (National Institute of Neurological Disorders and Stroke)
• Menkes Disease (National Institute of Neurological Disorders and Stroke)
• Neuronal Migration Disorders (National Institute of Neurological Disorders and Stroke)
• Porphyria (National Digestive Diseases Information Clearinghouse)
• Questions and Answers About Living With Beckwith-Wiedemann Syndrome (National Cancer Institute)
• Rare Genetic Diseases In Children: An Internet Resource Gateway: Lysosomal Storage Diseases (National MPS Society)
• Refsum Disease (National Institute of Neurological Disorders and Stroke)
• Severe Combined Immunodeficiency (SCID) (National Center for Biotechnology Information)
• Sturge-Weber Syndrome (National Institute of Neurological Disorders and Stroke)
• Tay-Sachs Disease (March of Dimes Birth Defects Foundation)
• Understanding Alpha-1 Antitrypsin Deficiency (National Heart, Lung, and Blood Institute)
• Velocardiofacial Syndrome (Children's Health Information Network)
• What is Progeria? (Progeria Research Foundation, Inc.)
• What is Syringomyelia? (American Syringomyelia Alliance Project)
• What is the Chiari Malformation? (American Syringomyelia Alliance Project)
• Wilson Disease (We Move)
• von Hippel-Lindau Disease (National Institute of Neurological Disorders and Stroke)

Dictionaries/Glossaries

• Glossary of Genetic Terms (National Human Genome Research Institute)
• Glossary of Terms (National Center for Environmental Health)
• Lysosomal Lexicon: A Glossary of Terms (National MPS Society)

Organizations

• Alpha One Foundation
• Division of Birth Defects, Child Development and Disabilities and Health (Centers for Disease Control and Prevention)
• Genetic Alliance
• Klinefelter Syndrome and Associates
• National Center for Environmental Health (Centers for Disease Control and Prevention)
• National Human Genome Research Institute
• National MPS Society
• National Neurofibromatosis Foundation
• Oxalosis and Hyperoxaluria Foundation
• Turner's Syndrome Society of the United States
• United Leukodystrophy Foundation

Español/Spanish

• Ataxia de Friedreich (National Institute of Neurological Disorders and Stroke)
• Intolerancia de Rh (March of Dimes Birth Defects Foundation)
• Muestra del Villus Coriónico (CVS) (March of Dimes Birth Defects Foundation)