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

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.

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.

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.

The first prenatal screen for disease was developed in 1961

Scientist Robert Guthrie created a method to test newborns for a metabolic defect called phenylketonuria, or PKU. This blood test didn't look for gene variants—it hunted for excess phenylalanine in the blood. The disorder is caused by an inability to digest the amino acid phenylalanine, leading to excess phenylalanine in the body. PKU results in intellectual disability, seizures, and other symptoms if it isn't caught early and treated with a specialized diet.

Sickle cell trait can put people at elevated risk of heat-related illness

This hereditary blood disorder affects the shape and function of red blood cells. A US military study found that among recruits the incidence rate of exertional heat-related illness was 48% higher among those who had sickle cell trait as compared to those without. Easing into intense exercise and gradually increasing exertional frequency and intensity is recommended.

Pregnancy at older ages increases the chances of fetal abnormalities

Chromosomal irregularities are more likely at older maternal ages so genetic testing for a fetus of mothers-to-be at age 35 and older is often recommended. Conditions that can be screened for in utero include cystic fibrosis, Tay-Sachs disease, sickle cell disease, Down syndrome, spina bifida, Duchenne muscular dystrophy, and more.

Why genetic testing for Alzheimer's risk may not be right for you

Medical experts warn that completing Alzheimer's testing for late-onset versions of the disease can be fraught, in part because there's a shortage of genetic counselors to help navigate the findings and their potential implications, including for one's finances. Learning you have one or two copies of the APOE4 gene variant, which elevates Alzheimer's risk, can be panic-inducing, but an elevated risk for the disease is not the same as saying it definitely will develop.

Usher Syndrome, a rare genetic disorder, causes progressive hearing and vision loss

People with one of the subtypes of this condition have a genetic mutation that starves cells in the inner ear and the retina of proteins required for detecting sound and light. Gene therapy in animals has seemed like a promising treatment for the condition.

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.

Polygenic scores aim to predict traits based on the contributions of many genes

These novel tests for multifactorial conditions evaluate the probability of traits like elevated blood pressure, diabetes, or high cholesterol based on what researchers currently know about different gene variants and their links to various traits. The tests are predictive, not definitive, partly because environmental factors influence the expression of genes. What's more, knowledge about cumulative effects from individual genes continues to evolve. The American Society for Reproductive Medicine states that these tests are too unreliable and nascent for clinical use.

Without 3-parent IVF, women carrying faulty mitochondrial DNA have few options for children

Women who are carriers of mitochondrial diseases that wish to have children without those conditions cannot be biological parents without three-parent IVF. The alternatives are to adopt or have a child via egg donation.

Bill Nye did not have children for fear of passing on ataxia

In his 2017 documentary, Nye revealed the congenital, neurological condition on his father's side of the family, which is characterized by a lack of balance and problems with fine motor movement. He has since learned he likely does not have the disease, though both his siblings have shown symptoms.

The first CRISPR-approved treatment was for sickle cell anemia in 2023

Victoria Gray was the first patient to receive a CRISPR-based therapy, which eliminated her symptoms and restored her health. The therapy's initial cost of $2.2M has kept it out of reach of many patients.

Hereditary hyperosmia is the official term for being a super-smeller

Some sniffers with this rare trait may be more sensitive to pleasant smells, while others may be more attuned to unpleasant scents. Some research suggests that certain genetic mutations are associated with a heightened sense of smell.

Fruit fly experiments helped identify genes responsible for major body development

The insects' fast life cycle and affordability have allowed geneticists to quickly identify which genes are responsible for limbs, eyes, and other body structures by inducing mutations. The same genes may be responsible for different parts of a species' body, such as limb-building genes being responsible for wing pigmentation in butterflies.

Chagas disease can be transmitted to a fetus during pregnancy

Researchers estimate that 63 to 315 cases of congenital Chagas disease occur annually in the US. Roughly 20 to 30 percent of all Chagas disease cases will progress to cardiac or gastrointestinal disease.

She can't feel pain, hunger, or danger

Olivia Farnsworth, born with a rare chromosome 6p deletion, may be the only person known to lack pain, hunger, and fear responses. This overview explores her unique condition, the incredible incidents that revealed it, and how scientists hope her case could unlock new insights into human survival and sensory systems.

The deadly genetic disease that steals shut-eye

Few are haunted by fatal familial insomnia. This neurodegenerative disease is typically carried through bloodlines via genetic mutation of the prion protein gene, forcing the body to create abnormal and pathological protein variations that can corrupt normal versions. This article follows a musician as they attempt to come to terms with the FFI plaguing their family (and, possibly, their future).

Visualize how CRISPR-Cas9—a type of immune system used by single-celled organisms to attack invasive viruses—targets and makes precise changes to a gene's DNA.

Genetic engineering mice is one idea to reduce Lyme disease transmission

Wild white-footed mice are the main carriers of Lyme. A research team is hoping to genetically engineer mice, using CRISPR, to make the animals immune to Lyme. They're proposing a field trial where they would insert a gene with an antibody to Lyme infection to break the disease transmission cycle on a private island and then try it in Nantucket if that goes well. Simply killing the mice isn't an option because it would upend food webs. Unlike traditional vaccines, this "heritable immunization" would pass from one generation of mice to the next.

See MS prevalence by region in the United States

This map underscores that people in the northeastern United States have more cases of the disease as compared to the south, west, and midwest. On an individual level, these numbers may still differ based on genetic makeup and other factors irrespective of where people live.

See this diverse list of vector-borne diseases

Human illnesses caused by parasites, viruses, and bacteria, and transmitted by a living organism—often small, bloodsucking ones like mosquitoes, ticks, and sandflies—are known as vector-borne diseases. That carrier is called a vector. These diseases disproportionately affect the poorest populations in tropical and subtropical areas.

Leprosy symptoms may appear 20 years after infection, so contact tracing isn't possible

The standard approach for tracking disease transmission isn't realistic for this disease because symptoms may take decades to manifest. As a result, disease transmission is still not fully understood.

Roughly 10% of the world has SSAD—SAD’s milder, nonclinical cousin

Subsyndromal affective disorder is diagnosed when someone exhibits two of the nine major criteria for depression (but not more than five) as a result of seasonal changes. While it is milder than primary SAD, SSAD is still significant and impacts millions.

Dogs' disease-sniffing skills were first identified in 1989

This capability, reported in the medical journal The Lancet, was discovered when a dog reportedly detected cancer in its handler. The dog repeatedly focused on a spot on the owner's leg where a malignant melanoma lesion was later found, helping lead to an early diagnosis.

Hookworm infection, though risky, may help fight certain autoimmune conditions by tamping down the immune system's inflammatory response.

Indefinite cloning of some endangered species may not sustain their longevity because cloning success rates decrease as genetic mutations accumulate.

About 12.5% of US adults experience a phobia in their lifetime, a diagnosis that hinges on the intense fear interfering with daily life and persisting for at least six months.

Scientists have struggled to pin down Ebola's natural reservoir species for decades, but the available evidence suggests that it's very likely fruit and insect-eating bats found in Africa.

In 1939, baseball star Lou Gehrig delivered his inspirational 'Luckiest Man' speech after retiring due to the health condition that now bears his name.

This real-time tracking of the hantavirus cruise ship outbreak in May 2026 offers a unique glimpse into the global reach of the outbreak and whether the virus sickened passengers and their communities around the world.

The hormonal disorder PCOS was renamed PMOS in 2026, a move designed to improve care and research by shifting the focus to the hormonal causes of this condition that affects 1 in 8 women.

Radioactive elements can introduce software errors because the ionizing radiation they produce can detach electrons from atoms, and computer code relies on the distribution of electrons.

When you complete a CAPTCHA on a website to prove you are human, you may be unknowingly training algorithms for self-driving cars, whose systems require training data to help identify crosswalks, bicycles, and other outdoor objects.

Bone marrow (soft tissue found inside certain bones) generates roughly 500 billion new blood cells each day

About 2,000 US babies are born annually without some portion of their limbs, potentially leading to a lifetime of pricey prosthetics.

Alzheimer's can lead to brain shrinkage, with an average of around 2% of volume reduction per year

Louisiana's 'Cancer Alley' is infamous for having some of the highest industrial pollution, toxic air emissions, and cancer risks in the US.

Up to a million Girl Scouts sell about 200 million cookie boxes every spring, generating $800 million, largely because refusing a child is frowned upon

Play the role of a student in a game where you try to navigate college and remain debt-free, selecting different income levels, high school experience, race, ethnicity, and more.

Salvador Dalí believed he was his own dead brother, who had died nine months before he was born

Budweiser stores yeast derived from the original 1800s strain in a secret bunker, which only the Head of Yeast Management can access—not even the CEO

This poison ivy knowledge quiz—accompanied by photos of the plant's varied forms—may help you identify this common rash-inducing growth.

The Great Salt Lake's distinct dual coloration results from high-salinity organisms that only live in the northern portion and produce a purple protein.

The United States is one of only around two dozen countries with a fully federal system of government, in which power is divided between national and state governments.

Hurricanes, which rely on air consistently spinning in the same direction, cannot cross the equator because air curves in opposite directions north and south of it.

In preparation for this weekend's Eurovision finale, which is something like the World Cup of pop music, here's a young Céline Dion performing (for Switzerland?) at the 1988 competition.

Venture capital is a form of funding provided to early-stage companies with high growth potential, typically in exchange for an equity (or ownership) stake

Some coin denominations have ridges etched on their sides, partly to prevent counterfeiting, in a practice called 'reeding.'