Alkaptonuria was the first identified genetic disorder

The first newborn screen for diseases was developed in 1961.

The first identification of Alzheimer's was made in 1906.

Read the original 1907 paper on the first known Alzheimer's patient, which was identified by Dr. Alois Alzheimer.

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.

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

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.

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

The pharmaceutical industry evolved, in part, from the discovery of synthetic dyes

In 1856, a chemist accidentally discovered mauveine, the world's first synthetic dye, while trying to make quinine to treat malaria. The synthetic dyes that followed helped reveal germs under microscopes, paving the way for modern imaging techniques and breakthrough treatments, such as antibiotics.

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.

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.

Usher Syndrome, a rare genetic disorder, causes progressive hearing and vision loss, and people with the condition sometimes eventually become deaf and blind.

Tetrachromacy allows humans to observe 10 times the normal amount of colors

Resulting from a mutation on the X chromosome, the rare genetic condition causes individuals to possess an additional type of photoreceptor cell, typically sensitive to the orange range, located between the standard red and green cones. This enables the perception of approximately 100 million colors.

Most people with East Asian ancestry are genetically predisposed to be less smelly.

Aurea is the first US baby born following polygenic analysis

The child, born in May 2020, was selected by her parents to optimize for certain health qualities based on an analysis of her multifactorial genes by a New Jersey-based company called Genomic Prediction. Her embryo was selected for implantation based on polygenic risk scores for heart disease, diabetes, and cancer.

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.

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.

Light therapy was widely used as a medical treatment for various maladies in the early 1900s before it was replaced by antibiotics.

Multiple genes are associated with Alzheimer's risk, but one particularly well-known disease-associated gene is apolipoprotein E (APOE), which typically encodes a protein that helps carry cholesterol and other fats in the bloodstream.

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 virus was officially described for the first time in 1789

Michael Underwood, an English physician and surgeon, was the first to describe the disorder, noting it caused disability in the lower extremities in children. Large-scale outbreaks of the disease were not observed until the late 19th century.

Genetic blood test offers an estimated clock on when Alzheimer's symptoms may appear

The 2026 research finding from researchers at Washington University School of Medicine in St. Louis—if validated in broader populations—suggests that an already available blood test could estimate when Alzheimer's symptoms may begin within a margin of several years. The test detects a protein called p-tau217 found in blood plasma and the researchers incorporated the findings from that blood test into a statistical model to come up with the symptom timeline predictions.

In the 1950s, Alan Turing developed a mathematical model to explain why animals have stripes, spots, and other patterns based on differences in how quickly two interacting chemicals spread throughout a developing organism.

Medical experts warn that completing genetic testing for Alzheimer's can be fraught, in part because there's a shortage of genetic counselors to help navigate the findings and their potential implications.

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.

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.

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.

Acrylamide forms naturally during high-heat cooking through the Maillard reaction

While studies have shown it can damage DNA and potentially cause cancer in mice, humans absorb and metabolize acrylamide at different rates, introducing uncertainty in the research's applicability to humans. Some international health agencies have nonetheless recommended avoiding darker roasts when cooking starchy foods.

LSD was discovered accidentally after its inventor touched his face and hallucinated.

One doctor argued vampires were based on a real disease

At a conference in 1985, Canadian biochemist David H. Dolphin posited that stories of vampires and werewolves had a real-world origin. He argued that porphyria could have caused sufferers to seek out blood, as well as experience light sensitivity and an aversion to garlic. More than one article in the 1990s discredited this take.

Radioactivity was accidentally discovered when uranium left marks on photographic plates

In 1896, Henri Becquerel had been exploring phosphorescence—the emission of light of one color after an object is exposed to another color. He expected these emissions to come from objects exposed to sunlight, but he observed emissions after an overcast day.

A 1974 Science News article proclaimed that within a decade, light therapy would be on par with traditional drugs.

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.

Bacteria helped scientists realize that DNA was the hereditary molecule, not proteins

Until the mid-1900s, most scientists believed genes were made of proteins, which were known to act as enzymes, hormones, and other chemicals that mediated an organism's traits. The Avery-MacLeod-McCarty and that benign bacteria could be made lethal, where the inherited factor that caused bacterial transformation contained DNA.

Ancestry testing matches DNA to known genetic variants found in specific ancestries

After a lab receives a person's sample, the DNA is separated into single strands, which are chemically cut into smaller fragments. The fragments are then fed into an array of variants of known origins, and technicians observe if a person's fragments bind to specific variants.

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

Explore this 1440 Original video offering a primer on Alzheimer's disease and what's known about its incidence, causes, and more.

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.)

Synchrotron radiation has revealed the fur color of creatures millions of years old

When electrons are accelerated in the loop, they produce intense X-rays that can reveal properties of a sample struck by them, just as X-rays can be used to show bone structure in humans. Studying the reflected light from fossils can uncover the presence of known pigmentation compounds.

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 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).

Alpha-gal allergy is a problem for red meat lovers, and that same alpha-gal sugar is an issue for xenotransplants, too—since it's present in pigs, human bodies reject pig-to-human transplants as foreign once they detect the substance.

A French Army surgeon discovered that malaria is a parasitic disease in 1880—but scientists were initially skeptical.

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.

Why is there a Vitamin K but no Vitamin F?

The first vitamin was identified in 1913 by an American scientist performing rat studies while investigating dairy cattle nutritional needs. Elmer Vernon McCollum called this first vitamin, found in butter and egg yolk, "fat-soluble factor A." This...

Aurea's father came upon polygenic risk scores after reading a news article about it

Rafal Smigrodzki, a neurologist with a PhD in genetics, first heard of the polygenic risk score offering after reading about it in a 2017 MIT Technology Review feature that focused on the company they eventually used, Genomic Prediction.

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

How MIT researchers have used genetic mutations to improve photosynthesis efficiency

Recognizing that RuBisCO—a protein that binds carbon dioxide to other compounds to produce the building blocks of organic molecules—often mistakenly binds oxygen, scientists performed directed evolution experiments to modify the geometry of a bacterial version of the protein to cause it to preferentially interact with carbon dioxide over oxygen.

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.)

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.

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.