Here’s how different genetic disorders get passed on

Common genetic disorders

As research continues, it's clear that disease and genetics go hand in hand. Here's a selection of 50 National Human Genome Research Institute (NHGRI) articles providing basic information on genetic, orphan, and rare diseases caused by mutations in DNA sequences, whether inherited from parents or brought about by outside factors.

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

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.

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.

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.

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....

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.

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.

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.

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.

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.

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.

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.

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.

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

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.

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.

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.

How do you sequence a genome?

If the genome is made up of microscopic chromosomes, how do scientists actually sequence it? Here's a 5-minute video explaining one of the most common processes.

An overview of the Human Genome Project

The Human Genome Project was a groundbreaking global scientific effort to sequence the genome of humans and several organisms used in scientific research. The sequenced genome was created by combining the DNA of 20 people from Buffalo, New York.

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.

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.

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.

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.

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.

How epigenetics blurs the line between nature and nurture

An exploration of the study of how behaviors and environment affect the way genes work — and how that complicates the nature-versus-nurture debate.

The Human Genome Project met its goals, but its outcomes were overpromised.

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.)

Think we decoded the genome in 2000? Nope. It was 2022.

Two decades after the draft sequence of the human genome was unveiled to great fanfare, a team of 99 scientists has finally deciphered the entire thing. They have filled in vast gaps and corrected a long list of errors in previous versions, giving us a new view of our DNA.

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.

About 70% of the Human Genome Project's reference genome came from one donor

Volunteers who donated blood to the Human Genome Project consented to using no more than 10% of their DNA, raising questions about the project's legality. Listen to how pressure from a private competitor may have driven officials to ignore ethical standards.

Imagining how genetics works in 'Harry Potter' and how muggle-born Hermione is a witch

Dr. Robert Pyatt, director of Sanford Health’s medical genetics lab, talks through real-world genetics scenarios in the Harry Potter series, from the Weasley's red hair and freckles to why Hermione, a witch, could be born to "muggle"—or nonmagical—parents.

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.

Breaking the genome into random segments accelerated the Human Genome Project

Hierarchical shotgun sequencing is a method for determining an organism's genome by fragmenting DNA before sequencing. By creating fragments with overlapping nucleotide bases, the DNA is reassembled by matching fragment ends.

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.)

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.

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.)

The Golden State killer case spotlights how genetic testing can affect your—and your relatives'—privacy

Police managed to use consumer DNA test results to close a case 32 years after a killer was believed to have committed at least 12 murders and 50 rapes. Their "smoking gun": They compared a DNA sample from the crime scene to genetic data relatives had shared on an open-source genealogy database. The suspect was caught after investigators explored family trees on this database and connected the dots from over 100 distant relatives who had some percentage of DNA that matched the killer. (Some users may encounter a paywall.)

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.)

A student researcher working on the Human Genome Project shares their perspective

In a conversation with Ewan Birney, Director of the European Bio-informatics Institute, he discusses what it was like to be a PhD student working on the Human Genome Project in the months before the draft announcement and its impact on him and the field of genetics.

Explore the human family tree

This interactive human family tree shows the various species that constitute the human evolutionary family. Click on each species or group image to learn more.

The messy story of humanity's genealogical past

For decades, scientists viewed the human fossil record and concluded Neanderthals, an early hominin, came before homo sapiens, or modern humans. The story became more complicated as technology advanced and ancient DNA samples were analyzed. This video breaks down the evidence, concluding the development of humanity was a lot messier than previously believed.

Explaining CRISPR at five levels of technical detail

CRISPR is a new area of biomedical science that enables gene editing and could be the key to eventually curing diseases like autism or cancer. WIRED challenges biologist Neville Sanjana to explain this concept to 5 different people; a 7-year-old, a 14-year-old, a college student, a grad student and a CRISPR expert.

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.

A fascinating look at how our DNA is built and replicated

This easy-to-understand 13-minute video dives into the wondrous molecule deoxyribonucleic acid – also known as DNA – and explains how it replicates itself in our cells.

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.

Humans are more genetically similar to cats than to dogs

While humans are not closely related to either cats or dogs from an evolutionary standpoint, scientists find that human and cat chromosomes are organized more similarly to each other than human and dog chromosomes, making cats a better model for studying human diseases.

See a timeline of the Human Genome Project

Despite starting on October 1, 1990, the goal of mapping all the DNA found in a human being was first planned in 1984. The project would reach its goals two years ahead of schedule in 2003.

Human origins 101

Learn about the over 20 early human species that belong in our family tree and how the natural selection of certain physical and behavioral traits defined what it means to be human.

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.)