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The GeneEd website is scheduled to be retired on March 31, 2019. Selected GeneEd content will be transferred to Genetics Home Reference, another online resource from the National Library of Medicine.

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Genetic Conditions

Genetic Conditions

Conditions caused by gene variations or mutations

Genetic conditions are caused in whole or in part by a change in a person’s DNA sequence. Genetic conditions can be caused by a mutation in one or multiple genes, by a combination of gene mutations and environmental factors, or by damage to chromosomes. Some genetic conditions are inherited, while others occur spontaneously.

Materials for Genetic Conditions


Genes and Your Health

Description: Learn about how genetics affects you and your family, why you should talk to your doctor about genetics, how to get involved in genetics research, and where to go for answers to your most challenging questions.

Genetic and Rare Diseases Information Center

Description: The Genetic and Rare Diseases Information Center (GARD) provides access to current, reliable, and easy to understand information about genetic and rare diseases in English and Spanish.

Genetic Conditions

Description: Explore the signs and symptoms, frequency, genetic cause, and inheritance pattern of hundreds of conditions, diseases, and syndromes.

Genetic Disorders

Description: The National Library of Medicine, a part of the National Institutes of Health, created and maintains MedlinePlus to assist you in locating authoritative health information. Explore their collection of resources on genetic disorders.

Genetic Disorders Library

Description: Find information on single gene disorders, chromosomal abnormalities, multifactorial disorders, as well as newborn screening and genetic counseling.


Description: Explore the US governments 10-year genomics objectives for improving the health of all Americans.

Rare Genetic Diseases - Ending Diagnostic Odysseys for Patients with Rare Diseases

Description: Around 350 million people on earth are living with rare disorders - this is a disorder or condition with fewer than 200,000 people diagnosed. About 80 percent of these rare disorders are genetic in origin, and 95 percent of them do not have even one treatment approved by the FDA. Find an engaging article, video, and links to learn more.

Rare Genetic Disorders - Learning About Genetic Disease Through Gene Mapping, SNPS, and Microarray Data

Description: The advanced learner may gain from this article a broad understanding of how genetic testing, and the study of diseases caused by single gene changes, have advanced our knowledge of human health and disease.

Specific Genetic Conditions

Description: Many human diseases have a genetic component. Some of these conditions are under investigation by researchers at or associated with the National Human Genome Research Institute. This page lets you explore information on select genetic, orphan and rare diseases.

Studying Genes

Description: What is a genome? What does it mean to have a genetic risk? Can researchers study someone's genes without permission? Explore these and further questions.

What Are Single Gene Disorders?

Description: Single gene disorders are caused by DNA changes in one particular gene, and often have predictable inheritance patterns.

What Is A Genetic Disorder?

Description: A genetic disorder is a disease that is caused by a change, or mutation, in an individual’s DNA sequence.

You and Your Genes Making It in a Tough Environment (PDF 341.83 KB)

Description: This illustrated article explores both genetic and environmental risks for human disease.


DNA Roulette

Description: This odds game makes learning about the probabilistic nature of genomics a blast. Unlike traditional roulette where the betting table and odds are always the same, DNA Roulettes odds are different for each disease or trait. Even within a disease, the odds are different depending on which of several possible genotypes is randomly selected by the game engine for that round.

Interactive Tutorials

BioDigital Human

Description: The BioDigital Human is a virtual 3D body. This interactive, medically accurate virtual body lets you learn about anatomy, health conditions, and treatments in a visual format that resembles life itself.

Central Dogma and Genetic Medicine

Description: The interactive includes descriptions of different steps in the pathways from gene to RNA to protein, information about a treatment strategy that targets each step, and an example of a genetic disease for which that strategy has been shown to work: examples include, cystic fibrosis, Huntington disease, and sickle cell disease.

Supermodels of Science

Description: Scientists use many different organisms to study diseases in humans. Learn about "model organisms" that help us learn about and find treatments for human diseases.

The Genetics of Resistance to HIV Infection

Description: This is a detailed interactive tutorial exploring mechanisms of HIV resistance. The tutorial sheds lights on the relationships between viruses, cells and the immune system. See how mutations in an HIV receptor confer relative resistance to infection. Find out how often this mutation occurs in the general population, and see data about additional mechanisms of HIV resistance.

Teacher Resources

Creating Genetic Counselor Pamphlets (Lesson Plans/Lesson Activities)

Description: After discussing the benefits and potential misuses of prenatal genetic testing, students in grades 9-12 research a particular genetic disorder and then create pamphlets about the disorder from a genetic counselor's point of view.

DNA Repair - Exploring the 2015 Nobel Prize Winning work of two NC scientists (Lesson Plans/Lesson Activities)

Description: This University of North Carolina teaching module explores several built-in protection mechanisms our bodies use to prevent and repair damage to DNA. In 2015, Dr. Aziz Sancar from UNC Chapel Hill and Dr. Paul Modrich from Duke University were awarded the Nobel Prize in Chemistry for their work on understanding DNA repair. Students will extract their own DNA from saliva and analyze REAL data from Dr. Sancars Nobel-winning research.

Exploring Twin Studies (PDF 1,037.91 KB, Lesson Plans/Lesson Activities)

Description: This lesson challenges students to list complex traits, and includes a reading on genetic and environmental influences in type II diabetes. Students are challenged to design a study to determine the relative contribution of environment and genetics for a given trait/condition. Finally, students are introduced to the most common design used for this purpose, the twin study.

From Genomes of Species (PDF 28.17 KB, Lesson Plans/Lesson Activities)

Description: Students create a play, interview a medical patient or doctor, explore advances in genomics at a local university, and consider the feasibility and ethical use of bonobos as a model organism.

Genetic Disease Webquest (Lesson Plans/Lesson Activities)

Description: A game perfect for the classroom. Your students become members of an elite medical investigation team, called into action because of a high number of mysterious infant deaths in a remote community in New Mexico. It is unclear whether the deaths are a result of an infectious disease or an inherited gene. As part of the investigation, your students must determine the cause of the deaths and what can be done to save the lives of other children in this community.

Personalized Medicine (aka Pharmacogenomics) (Lesson Plans/Lesson Activities)

Description: In this teaching module students will learn about the concept of personalized medicine; how differences in our genes affect whether a drug treatment will be successful or have serious side effects, and how we can use this information to customize treatments for individual patients. Students will participate in a hands-on activity to further demonstrate how subtle genetic differences affect a patients response to medication.

Rare Diseases and Scientific Inquiry (Lesson Plans/Lesson Activities)

Description: In this NIH curriculum supplement for middle school, students explore how scientists use inquiry to research rare diseases and treatments and to further understand the workings of the human body. The supplement contains two weeks of lessons that are easily integrated into your curriculum and are aligned to national and state standards.

Retinoblastoma, Cystic Fibrosis, and Body Mass Index, Oh My! (PDF 196.72 KB, Lesson Plans/Lesson Activities)

Description: Building on their intuitive understanding of twin study correlations, students analyze subsets of data to determine how strong the environmental and genetic influences are for three different traits/conditions. Students use mean, standard deviation, and Pearson correlation coefficient to describe and make meaning of their data. They also graph their data and correlations, and compare the results from their subset of data to the results of a group using a different subset of the data.

Technological Advances in Health (Lesson Plans/Lesson Activities)

Description: Students will learn how technology influences human existence by examining the benefits and risks of different biotechnological advances.

Who Gets Sick? (Lesson Plans/Lesson Activities)

Description: Students learn that disease is influenced by genetic factors. They also learn about how the likelihood of inheriting gene mutations for a particular disease is linked to the branches of the human family tree from which one descends.


Molecular Basis of Heredity: Part 3. Genetic Variation

Description: Join Raye Lynn Alford, PhD, as she explains the molecular basis of genetic variation, including mechanisms and types of DNA sequence variations, and patterns of inheritance of genetic disorders.

Rare Genetic Diseases - Ending Diagnostic Odysseys for Patients with Rare Diseases

Description: Around 350 million people on earth are living with rare disorders - this is a disorder or condition with fewer than 200,000 people diagnosed. About 80 percent of these rare disorders are genetic in origin, and 95 percent of them do not have even one treatment approved by the FDA. Find an engaging article, video, and links to learn more.

Telling Stories - Understanding Real Life Genetics

Description: A web-based multi-media education resource that uses real-life stories from the public and professionals to promote knowledge and understanding of genetics and how it impacts lives.

The Genome Era - What it Means to You

Description: The director of the National Institutes of Health, Dr. Francis Collins, describes the genomic research adventure that is leading to new and more precise ways to diagnose, treat and prevent common and rare genetic diseases. A variety of careers in genomics is presented.

The Pathway to Genomic Medicine

Description: Richard Gibbs, PhD, explains genomic medicine and its role in and relationship to genetic research, and outlines how technology and the study of genetics is transforming medicine.

The Structures of Life

Description: This engaging video shows how structural biology gives insight into health, disease, and drug design.