Common genetic disorders

Here’s how different genetic disorders get passed on

The human genome is complex, as identified by the Human Genome Project. This article digs in to genetic disorders, the most common ones, and how they are diagnosed.

Scientists identify hundreds of genes responsible for OCD

Researchers analyzed the DNA of more than 53,000 people with OCD and identified 30 areas in the genome linked to the disease, containing 249 genes of interest. Of those, several were linked to other brain disorders, paving the way for genetic treatments of various mental illnesses.

See a timeline of landmark discoveries in the field of genetics to gain a better understanding of more than a century of advances.

Around 5 million of our 3 billion DNA letters differ between individuals

Genetic testing examines gene variants to help explain disease symptoms. It explores how genetic differences between individuals can be used to understand risks of developing diseases like Huntington's Disease or passing variants linked to disease onto offspring.

Carrier screening enables individuals without symptoms to see if they carry a gene for disease

Some conditions are autosomal recessive—meaning a person may carry a gene for that condition, but not have symptoms. Cystic fibrosis, sickle cell disease, and Tay-Sachs disease are examples of autosomal recessive diseases in which a person must inherit two copies of a nonfunctioning gene—one from each parent—to develop disease.

Twin studies suggest celiac disease is among the more genetically-linked disorders

Genetics appear to play a larger part in this condition's development than many other autoimmune disorders. Research shows a roughly 60-75% genetic probability that if one identical twin has it, the other will too. Celiac triggers a small intestine attack when people eat gluten, a protein commonly found in wheat, barley, and rye.

Many cancers arise from genetic mutations inherited from your parents

These mutations may happen in response to environmental or lifestyle factors, or may be passed down through family members. Genetic testing can be important in catching certain family cancers early and ensuring patients receive the right treatment for their disease.

80% of schizophrenia cases may be inherited

Some research suggests that anywhere between 60% and 80% of people with schizophrenia had genes that predisposed them to the syndrome. That high rate has fueled interest in further exploration of what environmental and lifestyle factors cause some people with that genetic risk to develop the disease when others with the same genetic risks do not.

Advance genetic research by playing these scientific video games

Computers produce so much information that researchers can't properly analyze all the data produced, and the overload can also lead computers to make mistakes. Researchers are increasingly turning to citizen scientists—members of the public who are willing to volunteer—to help them make sense of data when computers can't. This article details a few of the ways you can contribute to genetics research by playing video games.

Gene therapy, a hope of the Human Genome Project, has successfully treated a baby born with a rare urea cycle disorder that causes toxic ammonia level buildup.

Less than 1% of people globally have schizophrenia, a syndrome strongly linked to genetics

Schizophrenia's causes remain largely unknown, though scientists suggest it's caused by multiple factors. Its symptoms include disruption of thought processes rather than the exhibiting of multiple personalities. This brief video provides an overview of the condition.

Somatic expansion, the lifelong growth of specific repeating DNA sequences, is being studied as a potential treatment target for Huntington's disease and other disorders.

Genes are the basic units of heredity

These segments of DNA—long molecules made of nucleotides that coil into chromosomes—code instructions for making specific proteins, which correspond to different traits. Approximately 98 to 99% of human DNA is non-coding, with functions beyond protein synthesis.

Genetic drug matching, called pharmacogenomics, can help avoid dangerous drug reactions

Certain gene variants can affect how quickly or slowly medications are broken down in the body, affecting drug effectiveness and the risk of drugs failing. Such testing is often not covered by insurance companies though research indicates if these tests were performed for more than six drugs across the US population, avoided ailments would likely climb into the hundreds of thousands. (Some users may encounter a paywall.)

Modern genetic testing stems from a 1950s discovery about the cause of Down syndrome.

Genetic tests aren't always actionable, which is one reason genetic counselors are so vital

This podcast interview with a Harvard Medical School professor focused on cancer genetics and prevention discusses the specifics of genetic testing and insights and the challenges of processing the outcomes of the testing and what may be actionable—or not.

DNA carries the unique instructions that shape how each person grows and functions

The human genome contains over six billion DNA letters, organized into 46 chromosomes inherited from both parents. Genes—sections of DNA—serve as templates for making proteins, and variations in these sequences can affect how our bodies work or respond to the environment.

Explore the original goals of the Human Genome Project

The project goals emphasized DNA sequencing technologies and methods, which would lead to future treatments of genetic disorders. Exploring the project data's ethical and social implications was also considered.

See this list of FDA-approved gene therapies, including offerings for inherited conditions as well as some forms of cancer.

Minorities are largely underrepresented in medical research, which compromises our understanding of how conditions and treatments may affect various populations, but recent efforts, like the African Ancestry Neuroscience Research Initiative and new genome research studies, are seeking to close that gap.

Genetic engineering will change everything forever

Designer babies, the end of diseases, genetically modified humans that never age. Outrageous things that used to be science fiction are suddenly becoming reality. As scientists increasingly understand how specific genes cause disease, the possibility of engineering our genes to not only "fix" problems but enhance our natural ability grows.

Fully sequenced human genome will help scientists better understand disease

April marks the 20-year anniversary of the completion of the Human Genome Project, a monumental achievement that provided the first map of the human genetic code and advanced our understanding of human biology, disease, and potential treatments....

Even if you have some ASD-linked gene variations you may not develop ASD

Individual environment and life experiences affect how genes perform in the body, potentially adding methyl groups to DNA that affect their function and turning genes on and off—which may heighten or reduce disease risk.

The Human Genome Project spawned numerous spinoff genetics projects

The Human Genome Project led to the development of techniques later applied to projects in microbial and plant biology, epigenomics, environmental and cancer genomes, and more. In the spirit of the HGP, data from these projects has been made freely available to develop new technologies.

The lack of diversity in DNA databases limits their applications

European ancestry dominates genetic research, hindering the usage of genetic databases for precision medicine for other groups, including African Americans, who face higher health risks due to genetic variants. Many Indigenous communities have also resisted genetic research due to past exploitation. (Some readers may experience a paywall.)

A single-gene mutation in the FOXC2 gene gave actress Elizabeth Taylor two rows of eyelashes.

Here's why genetically identical sisters can have different colored eyes

The sequence of DNA that we inherit from our parents encodes directions for making our cells and giving us specific traits. Identical twins have the same DNA sequence, so how can one twin end up with a genetic disorder while the other twin does not? Robin Ball explains how the secret lies in X chromosome inactivation.

The history of the gene: an interactive timeline

Humans didn’t need modern technology to figure out that kids tend to look like their parents. But what did humans believe about genetics before we knew about DNA or cells in general? Explore this interactive timeline to see how philosophers and scientists throughout the ages tried to explain how traits are passed from generation to generation.

All publicly available DNA sequences are available at GenBank

The National Institutes of Health's database stores comprehensive, annotated DNA sequences as part of the International Nucleotide Sequence Database Collaboration. It encourages unrestricted data access within the scientific community while allowing submitters to retain intellectual property rights over their data.

What is genetics?

What is a genome, and how are traits passed from generation to generation? Learn how pea plants helped launch the study of genetics and how the field of genetics research has evolved over time.

Gene expression patterns are similar between ASD, schizophrenia, and bipolar disorder

Postmortem brain tissue analysis suggests there are genetic and epigenetic similarities between individuals with autism, schizophrenia and bipolar disorder. All three conditions appeared to have activation of genes in astrocytes and suppression of specific genes that function at the junction between neurons, called synapses. (Some users may encounter a paywall.)

Learn about the more than 100 known autoimmune diseases

Explore this resource with summaries and related resources for the dozens of autoimmune diseases defined in the medical literature. Many of these disease write-ups also have interviews with a patient with the disorder—offering a personal take about challenges, advice, and lifestyle effects.

Half of human DNA is inherited from each parent

Within most cells reside 23 pairs of chromosomes made of tightly wound DNA, and half of each pair is inherited from each parent. The 23rd pair consists of two X-shaped chromosomes, or one such chromosome paired with a Y chromosome, and determines biological sex.

Roughly 1 in every 4,300 individuals in the US has mitochondrial disease

Roughly 1,000 to 4,000 kids are born with these conditions each year in the US though many of the diseases are fatal. Mitochondrial disorders often affect the organs that require the most energy, including the heart, brain, and muscles.

A planned clinical trial to treat a rare lysosomal storage disorder in utero has buoyed hopes of providing prenatal gene therapies, but it was still awaiting FDA approval to begin enrolling patients as of May 2026.

Researchers are exploring neural links between Alzheimer's and autism

Recent DNA sequencing and molecular biology studies suggest that similarities in genes, neural circuitry and patterns of disease warrant further exploration to potentially better understand both conditions and how to treat them. (Some users may encounter a paywall.)

Genetics play a role in the reliability of the body's biological clocks

Growing evidence suggests genetics influence when, how long, and how well one sleeps, meaning insomnia may have a genetic component. While exact insomnia biomarkers have yet to be determined, some genes, including those related to psychiatric disorders, have been implicated.

Changing a single letter in DNA can permanently alter an organism

Genetic mutations occur when cells replicate, which requires a copy of DNA to be created, and involve substituting, deleting, or inserting letters in a cell's genetic code. Mutations can be caused by normal cellular processes, chemical exposure (e.g., carcinogens), or radiation and may result in genetic disorders or genetic variations that drive evolution.

Where do genes come from?

There are many more genes on Earth today than when microbial life first spawned on the planet about four billion years ago. Many of these newer genes grew from genetic mutations, misprints that slowly drift from the original blueprint via cellular division. If these mutations drift far enough, they can establish a new family of genes, though this process can take well over a million years.

The promises and perils of using at-home genetic tests for your health

A primer on genetic testing, personalized medicine, and the promise of pharmacogenomics–the use of genetics to predict an individual's response to a drug.

Silicon Valley startups Orchid, Nucleus, and Genomic Prediction are selling so-called polygenic tests for prospective parents

These tests claim to show how at-risk a hypothetical baby would be for genetic syndromes. The newfound industry has prompted ethical and medical debates, with critics questioning their accuracy and highlighting the potential problems behind pursuing the perfect baby.

How personalized gene-editing saved a baby's life

KJ Muldoon had a 50% chance of surviving a genetic mutation until doctors developed a one-of-a-kind gene-editing therapy. In an interview with one of the researchers behind the treatment, learn what it will take to make personalized genetic medicine possible for everyone.

Why don't we all have cancer?

The creation of a single cell produces 120,000 genetic mutations that can lead to cancer. This video investigates how our bodies proofread and autocorrect those mistakes.

The genetic links between different dog breeds

There are nearly 400 modern domestic dog breeds with unique histories and genetic profiles, many of which share genetic traits based on their geographic origin. This visualization captures the links between 150 common breeds—for example, boxers share genetic variants with 11 of 16 breeds of European Mastiff, along with five others outside of that group. Explore which breeds your pet is linked to with this chart.

All humans share 99.9% of the same DNA

Of the 3 billion base pairs that make up the human genome—the complete set of genetic material for the species—the diversity of humans is the result of variations in about 3 million molecular bases. The closest nonhuman genetic match is the chimp, with 98.8% similar genetics.

Many of the new prenatal genetic tests for rare genetic conditions are inaccurate

Established screening tests for Down syndrome in utero are reliable and accurate. But a New York Times investigation into expanded prenatal genetic tests for very rare diseases—much rarer than Down syndrome—found that more than 80 percent of the positive test results turned out to be wrong based on follow-up testing. These expanded tests for rare diseases are performed from a blood draw at 10 weeks of pregnancy and aim to detect chromosomal abnormalities linked to rare diseases. Companies that offer these controversial tests counter that it's only a screening test—not a diagnosis—picking up true positives and noting that patients can and should be counseled about what the findings mean. (Some users may encounter a paywall.)

Only 2% of human DNA codes for proteins

The entire human genome contains about 20,000 protein-coding genes, with the rest having initially been categorized as "junk" DNA. However, research since 2003 suggests that this "dark genome" regulates how protein-coding genes are expressed in response to environmental factors encountered by cells.

Alkaptonuria was the first identified genetic disorder

In 1902, a rare recessive mutation was determined to cause alkaptonuria—a disease that induces dark pigmentation of connective tissue. The responsible gene was not isolated until the 1990s.

CRISPR allows scientists to cut out and replace faulty or unwanted DNA, which can help treat genetic disorders, such as sickle cell disease, and create genetically modified organisms, such as allergen-free foods.

How do genetics work?

Perhaps you have your mother’s hair or your grandfather’s eyes. How did you get these traits and not others? Learn how genetics work in this online video game.