Alkaptonuria was the first identified genetic disorder

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.

The first identification of Alzheimer's was made in 1906

The first case of Alzheimer's disease dates to the early 20th century when Dr. Alois Alzheimer had 51-year-old Auguste Deter as a patient. Deter struggled with sudden memory issues and aggressive, irrational behavior. After Deter's death, Alzheimer examined her brain and found strange collections of molecular pileups.

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.

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.

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.

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

A gene variant found in 80%-95% of individuals with East Asian ancestry reduces armpit bacteria and related odors. People with this nonfunctioning ABCC11 gene variant lack a protein that transports molecules, including sweat, across cellular membranes, so their armpits are starved of sweat that bacteria may have metabolized to help them multiply.

Listen to how one gene affects Alzheimer's risk

Multiple genes are associated with Alzheimer's risk, but one well-known disease-associated gene is the apolipoprotein E (APOE) gene, which is typically involved in making a protein that helps carry cholesterol and other fats in the bloodstream. Specific variants of this gene are associated with elevated disease risk, though even if someone has two copies of the disease, that doesn't mean they will definitely develop Alzheimer's.

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

Unlike many drugs, the first time a human ever tripped on acid was recorded first-hand by a scientist. Swiss chemist Albert Hofmann, curious about the "not unpleasant intoxicated-like condition" that overcame him after an accidental exposure, set up a rigorous experiment to test the drug's effects on himself.

The first criminal conviction through the use of DNA evidence was in 1988

Chromosomes contain markers where short DNA sequences repeat a variable number of times from person to person. A DNA profile is constructed by identifying the number of repeats across 20 regions throughout a genome, which can be compared against a database. DNA paternity tests work similarly by comparing markers between children and their fathers. (Some readers may experience a paywall.)

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.

Cats have a mutation preventing them from tasting sugar

When certain tastes (sweet, umami, bitter) become irrelevant due to a species' diet or lifestyle, the genes for those tastes degrade. In felines, scientists believe a shift to a protein-heavy diet put evolutionary pressure on the genes responsible for tasting sweetness. (Some users may encounter a paywall.)

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...

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.

Rodent evidence is mounting that dysfunctional mitochondria may be a cause of Parkinson's

Though researchers have long observed mitochondrial malfunction in Parkinson's patients, it has remained unclear whether faulty mitochondria cause the disease or are casualties of it. Rodent research published in 2025 adds further weight to the idea that it's causative.

A brief history of human blood groups

The blood group that determines whether you have type A, B, AB, or O blood was discovered near the turn of the 20th century. This short academic article dives into three main theories about the evolution and emergence of blood groups, the exact nature of which remains unclear.

Astatine-211 is a radioisotope that can be used for therapeutic cancer treatment

With less than 30 grams in the Earth's crust at any given time, astatine is the rarest naturally occurring element. Its decay produces alpha particles that can damage diseased cells with the same impact as 10,000 electrons.

Autoimmune diseases affect between 5% and 10% of people worldwide, but their causes remain unknown

Autoantibodies—which attack the body—may be detectable in the body years before a patient develops symptoms, but some people may have detectable levels yet never go on to develop an autoimmune disease. This video discusses this and other unsolved mysteries with autoimmune disease.

Watch this behind-the-scenes interview about the first person ever diagnosed with autism

Two reporters from The Atlantic tell the story behind their effort to track down the first diagnosed autism patient, Donald Gray Triplett, in Forest, Mississippi, and how his life turned out decades later.

Leonard Thompson was the first human to receive an insulin injection for diabetes

In January 1922, the 14-year-old was the first person to receive an insulin injection to treat diabetes, just months after insulin was isolated in dogs and used to treat their induced diabetes. Thompson had an allergic response to an apparent impurity in the injection, but his second dose, 12 days later, was a success.

Peptides account for 31 of 370 new drugs approved by US FDA between 2016 and 2023

Among the approved peptide-based drugs is the first-ever treatment for Rett syndrome, a rare inherited neurologic disorder that leads to a progressive loss of motor skills and language. Peptides are particularly attractive for multiple reasons, including their ability to selectively bind to cellular receptors to either activate or inhibit their function.

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 disease no one survives (yet)

Creutzfeldt-Jakob disease is currently incurable and can cause one's death within months of symptoms appearing. It involves misfolded proteins that, for some reason yet unknown to science, aren't cleared by the brain as typical and instead trigger similar proteins to misfold. These malformed major prion proteins—prion being a portmanteau of protein and infection—clump inside nerve cells, blocking signals crucial to processes ranging from speaking to organ function.

Poison ivy was sent to Europe in the 1600s as an exotic, ornamental oddity, where it was purposefully grown in the English royal gardens at Kew, the Faculty of Medicine in Paris, and a few other locations.

Who was behind the fatal 1982 Tylenol poisonings?

In 1982, an unknown suspect laced Tylenol packages with potassium cyanide in a Chicago pharmacy. Seven people were killed, and the case led to a nationwide panic, as well as the development of tamper-resistant packaging. No one was ever charged with the deaths, and the lead suspect died in 2023 after serving time in prison for trying to extort $1 million from a manufacturer to "stop the killing."

At the beginning of the 20th century, a group of young men ate standard American food—replete with food additives like borax and formaldehyde—as part of government research to better understand food safety.

The concept of phantom limbs, the perception that amputated limbs are still present, dates back to a French military surgeon in the 16th century.

Larger animals like giraffes, elephants, and blue whales have developed a unique defense against cancer, a phenomenon known as Peto's Paradox

Astronauts have repaired genetic damage in space using CRISPR—a molecular tool that can make precise changes to DNA and is used in single-celled organisms to attack invasive viruses.

The first line of 'immortal' human cells, which can divide indefinitely and are used in scientific research, was nonconsensually taken from a Black woman.

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

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.

The original copy of the Declaration of Independence is not a pristine document, and even features a smudged anonymous handprint in the bottom left corner.

As of 2025, the most cited papers in science include a review of graphene, methods to improve image recognition, streamlining electron density calculations, and optimizing protein studies.

Fear or disgust related to clusters of holes and cracks, called trypophobia, may stem from evolutionary processes to help us avoid pathogens.

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

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.

Ebola species have historically been named after where they were discovered, stigmatizing residents who live there, including Bundibugyo, in Uganda.

The term 'algorithm' originated from the Latinized name of al-Khwārizmī, a 9th-century mathematician whose works introduced Arabic numerals and the decimal-based numeral system to Europe and whose treatise 'Al-Jabr' gave algebra its name.

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

While atoms are normally made of protons, neutrons, and electrons, exotic ones have been built with antimatter—alternate versions of normal matter that live for fractions of a second and are about a billion times as rare.

Listen to an in-depth conversation on the links between Parkinson's disease and herbicide exposure and the challenging pace of scientific investigation.

The American cockroach is actually from Africa, an apparent hitchhiker aboard ships carrying enslaved people, with evidence suggesting the bug may have arrived in the New World as early as the 1600s.

After her fellow cult members tried to kill her with an LSD-infused hamburger, one member of the Manson Family, the murderous cult led by Charles Manson, decided to testify against the group's leader.

One of the most famous portraits ever taken is 'Afghan Girl' (1984) by Steve McCurry, yet the subject Sharbat Gula went much of her life without being identified or benefitting from the image's success.

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.

While the first exchange-traded fund (a 'basket' of different assets that can be bought and sold on a stock exchange) in the US only launched in 1993, the global ETF market has grown to more than $10T in the short time since.

In 1963, a basement renovation in Turkey revealed a passageway to a hidden, multilevel underground city that once housed as many as 20,000 people

Search a massive database of over 4 decades of clues from the TV quiz show 'Jeopardy!'