Genetic Disorders

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Basics

• Summary
• Start Here
• Latest News
• Diagnosis and Tests
• Treatments and Therapies

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• Specifics

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• Statistics and Research
• Clinical Trials
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Summary

Genes are the building blocks of heredity. They are passed from parent to child. They hold DNA, the instructions for making proteins. Proteins do most of the work in cells. They move molecules from one place to another, build structures, break down toxins, and do many other maintenance jobs.

Sometimes there is a mutation, a change in a gene or genes. The mutation changes the gene's instructions for making a protein, so the protein does not work properly or is missing entirely. This can cause a medical condition called a genetic disorder.

You can inherit a gene mutation from one or both parents. A mutation can also happen during your lifetime.

There are three types of genetic disorders:

• Single-gene disorders, where a mutation affects one gene. Sickle cell anemia is an example.
• Chromosomal disorders, where chromosomes (or parts of chromosomes) are missing or changed. Chromosomes are the structures that hold our genes. Down syndrome is a chromosomal disorder.
• Complex disorders, where there are mutations in two or more genes. Often your lifestyle and environment also play a role. Colon cancer is an example.

Genetic tests on blood and other tissue can identify genetic disorders.

NIH: National Library of Medicine

Start Here

• Frequently Asked Questions about Genetic Disorders (National Human Genome Research Institute)
• Genetic and Rare Diseases Information Center
• Genetics Home Reference (National Library of Medicine)
• Studying Genes (National Institute of General Medical Sciences)

Latest News

• Brineura Approved for Rare Genetic Illness Affecting Kids (04/28/2017, HealthDay)

Diagnosis and Tests

• Genetic Testing: MedlinePlus Health Topic (National Library of Medicine) Also in Spanish
• How Are Genetic Conditions Diagnosed? (National Library of Medicine)
• Newborn Screening: MedlinePlus Health Topic (National Library of Medicine) Also in Spanish
• Progeria Research Foundation Diagnostic Testing Program (Progeria Research Foundation, Inc.)

Treatments and Therapies

• How Are Genetic Conditions Treated or Managed? (National Library of Medicine)

Living With

• Physical Therapy and Occupational Therapy in Progeria (Progeria Research Foundation, Inc.) - PDF

Specifics

• Chromosomal Conditions (March of Dimes Birth Defects Foundation) Also in Spanish
• Cryopyrin-Associated Autoinflammatory Syndromes (CAPS) - Juvenile (American College of Rheumatology) Also in Spanish
• Genetics Home Reference (National Library of Medicine)
• Learning about an Undiagosed Condition in an Adult (National Human Genome Research Institute)
• Learning about Poland Anomaly (National Human Genome Research Institute)
• Learning about Progeria (National Human Genome Research Institute)
• Noonan Syndrome: Symptoms and Causes (Mayo Foundation for Medical Education and Research)
• Progeria 101/FAQ (Progeria Research Foundation, Inc.)
• Specific Genetic Disorders (National Human Genome Research Institute)
• Triple X Syndrome: Symptoms and Causes (Mayo Foundation for Medical Education and Research)
• Williams Syndrome (National Institute of Neurological Disorders and Stroke)

Statistics and Research

• All about the Human Genome Project (HGP) (National Human Genome Research Institute)

Clinical Trials

• ClinicalTrials.gov: Genetic Diseases, Inborn (National Institutes of Health)
• ClinicalTrials.gov: Progeria (National Institutes of Health)

Journal Articles References and abstracts from MEDLINE/PubMed (National Library of Medicine)

• Article: Exome sequencing identifies a de novo mutation of CTNNB1 gene...
• Article: Combating mutations in genetic disease and drug resistance: understanding molecular...
• Article: Associations of GATA4 genetic mutations with the risk of congenital...
• Genetic Disorders -- see more articles

Reference Desk

• Chromosome Abnormalities (National Human Genome Research Institute)
• Genetic Testing Registry (National Center for Biotechnology Information)
• Talking Glossary of Genetic Terms (National Human Genome Research Institute) Also in Spanish

Find an Expert

• Centers for Disease Control and Prevention Also in Spanish
• Genetic Alliance
• Genetic and Rare Diseases Information Center
• National Human Genome Research Institute
• National Institute of Child Health and Human Development Also in Spanish
• National Institute of Neurological Disorders and Stroke Also in Spanish

Children

• All about Genetics (For Parents) (Nemours Foundation) Also in Spanish
• Learning about an Undiagosed Condition in a Child (National Human Genome Research Institute)
• What Is a Gene? (For Kids) (Nemours Foundation) Also in Spanish
• What Is a Pediatric Geneticist? (American Academy of Pediatrics) Also in Spanish

Teenagers

• Basics on Genes and Genetic Disorders (Nemours Foundation) Also in Spanish

Women

• Genetic Disorders (American College of Obstetricians and Gynecologists)

Patient Handouts

• Genetics (Medical Encyclopedia) Also in Spanish