She can't feel pain, hunger, or danger

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).

Phantom limbs aren't just limited to limbs—there are phantom breasts, teeth, and more, and these sensations are often painful.

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.

Brain conditions and surgery can cause some individuals to feel no fear

Fear is a survival mechanism that originates in the brain's amygdala, triggering the body's fight-or-flight response. However, in modern society, without the same natural dangers, fear can lead to anxiety and mental health issues when unnecessarily triggered. Understanding individuals without fear may help identify new methods to treat anxiety disorders.

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.

Lesser-known phobias include turophobia, or the fear of cheese, and nomophobia, the fear of being without your cell phone.

A famous philosophical question asks would you opt for a life with no pain—but without reality.

Explore the biology of pain and why the experience of pain may differ widely from one person to another.

Which organs can you live without?

While there are some organs (such as the heart) that people simply can’t live without, there are other organs that can be removed without a huge impact. Patients who have their appendix removed, for example, experience no changes to their daily...

Doctors ignored women's pain as a nurse replaced their fentanyl with saline

This five-part podcast series, produced by Serial Productions, focuses on the experiences of women undergoing fertility treatments at a Yale clinic where a nurse secretly replaced pain medication with saline solution. This led to women experiencing excruciating pain during procedures, but the clinic downplayed or ignored their complaints.

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.

Neural replays in mice help explain food aversions

Princeton University scientists published research in 2025 analyzing how mice learn to associate certain foods or flavors with feeling ill—even when there’s a time gap between eating something and feeling sick. The work, performed with grape Kool-Aid and injections of a substance that made mice sick, traced the literal “gut reaction” of how gut distress signals are linked to neural replays of what the mouse ate.

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

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.

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

Why one Emily Dickinson biographer believed she had epilepsy

Lyndall Gordon's "Lives Like Loaded Guns" points to a "handicap" referenced in several Dickinson poems. According to Gordon, the condition was so stigmatized during Dickinson's life that it made her reclusive. In this NPR interview, Gordon explains why she believes the theory is the best explanation for Dickinson's notorious isolation.

Six-year-old boy in wheelchair surprises his family by walking at his graduation

The young boy was diagnosed with Noonan syndrome, a rare genetic disorder that impacts mobility and development, at just 2 months old. He usually needs a wheelchair or walker to get around, but he shocked and thrilled his parents by standing up to receive his kindergarten diploma.

Cats have a mutation that prevents them from tasting sweetness, and goldfish rank among the world's supertasters.

Individuals with synesthesia experience involuntarily overlapping sensations

Tasting words or seeing colors in music results from the brain retaining extrasensory connections from infancy. While most lose these neural pathways during development, about 4% of people are synesthetes, maintaining them without realizing it's unusual.

Aphantasia involves a lack of mental images—but doesn't affect behavior

The condition, generally known about for over a century, first received its name in 2015 by researcher Adam Zeman. An estimated 4% of people lack this ability to perceive mental images, and research suggests this deficiency does not have any practical impact on behavior.

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.

Phantom limb pain may often match the pain or contortion of the injury that led to the limb loss.

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.

Gene therapy for a rare type of deafness is allowing deaf children and adults to hear for the first time, according to research results reported in April 2026.

The ultrarare 'Er' blood type has been documented only about 40 times, and it can cause devastating pregnancy complications.

Anhedonia, which means 'without pleasure' in Greek, is typical in major depressive disorder

This common symptom—a flat affect—results in previously enjoyable hobbies no longer bringing pleasure. People with anhedonia may also avoid social situations because they anticipate they'll bring no joy, not because of anxiety or fear.

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.

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.

'Golden blood' is the rarest blood type in the world—fewer than 50 people are known to have it.

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.

The brains of people who experience frisson have unique neural pathways

A small 2016 study aimed to investigate the behavioral and neural differences between 10 individuals who experience goose bumps when listening to music and 10 who typically don’t. Scientists reported that individuals experiencing musical chills had greater white matter connectivity in specific auditory, emotional, and social processing areas of the brain.

Humans likely cannot tickle themselves because there's no element of surprise

Unraveling the neural mechanisms of tickling—formally called gargalesis—is an area of active research, but a leading theory about why we can't tickle ourselves is that the brain's somatosensory cortex processes self-touch differently than it does external touch. The cerebellum already anticipated what was going to happen when you move your hand for self-touch, limiting the effectiveness of a self-tickle.

Drs. Jennifer Doudna and Emmanuelle Charpentier discuss CRISPR

Jennifer Doudna and Emmanuelle Charpentier's were awarded the 2020 Nobel Prize for research focused on understanding and adapting the CRISPR-Cas9 system to precisely edit DNA sequences in other organisms. Doudna has indicated that the system can potentially treat genetic forms of blindness and high cholesterol.

Listen to an amputee describe what it was like in the aftermath of his partial foot amputation and how his chronic, extreme pain fueled his depression and his decision to attempt to alleviate the pain with the radical surgery.

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.

Losing a brain-computer interface can trigger lasting psychological distress

A clinical trial participant with severe epilepsy described becoming “one” with her implant after it gave her unprecedented control over her seizures. When the device was removed due to the company shutting down, she experienced deep emotional trauma and a sense of personal loss.

A super-sniffer smelled her husband's Parkinson's disease years ahead of symptoms.

Proteins with limited light sensitivity prevent humans from seeing all types of light

Specialized photoreceptor cells in the retina called cones each possess photopigments that activate when exposed to three ranges of visible light. Other forms of electromagnetic radiation outside the activation range do not generate signals for processing in the brain, thereby limiting average human vision to approximately 10 million colors.

Misophonia is a neurological disorder where sounds trigger strong emotions

The phenomenon is characterized by decreased tolerance to specific sounds, such as heavy breathing, pen clicking, and water dripping, which trigger a fight-or-flight response. The resulting emotions, which can range from irritation and disgust to anxiety and fear, can be overwhelming and uncontrollable.

The subjectivity of pain means that one person's kidney stones may be another's childbirth, but most sources of pain do have objective, underlying causes.

The research that led to sour

Scientists are trying to figure out if there are unique receptors that respond to the molecules that make up flavors we associate with calcium, blood, batteries, and other items that often escape dinner menus. Taste researcher Dr. Danielle Reed says the minimum evidence for a taste category typically involves identifying dedicated receptors and then removing them to show the taste vanishes.

Hacking the body for a future that didn't happen

Journalist Adi Robertson experimented with one of the most accessible biohacks: magnets. Having a tiny magnet in their right ring finger meant they could sense magnetic fields, attract small metal objects, and more. But magnets weaken over time, eroding this new sense. Such implants do more than offer a new way of interacting with the world, they also pose new complications, such as the inability to get an MRI.

Humans can track smells on the ground quite well—our ability to crawl is a limiting factor

As part of a scientific bet, neurobiology researchers dragged a chocolate bar across the grass and sought to see if a human could track it—she could. This led to a more in-depth experiment on human olfactory capabilities and behavior when other senses were blocked.

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.

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.

Researchers have investigated the benefits of extreme pain rituals, exploring how and why we engage in these events when humans generally naturally avoid pain and perceive it as a negative experience.

Humans won't develop more than 5 fingers because it would impact too many body parts

All modern animals have five or fewer digits on each of their limbs. Roughly 348 million years ago, at least two species had eight: the Ichthyostega and the Acanthostega. According to Dollo's law, complex evolved features are very unlikely to recur in evolution. Researchers believe humans won't develop more than five digits because it would impact other body parts too much.

Why are women more likely to suffer autoimmune diseases than men?

A majority of Americans with autoimmune diseases have more than one X chromosome, a typical marker of the female biological sex, according to a study published in February of 2024. During fetal development, cells side with one X chromosome over the other, preventing the overproduction of X-chromosome-specific proteins and shutting down the twin chromosome. This article explores how this X-chromosome inactivation can lead to autoimmune disorders by generating antibodies to the body's own tissues.

In 1984, a dying infant lived for three weeks with a baboon heart inside her chest.

The woman erased from the DNA breakthrough

Rosalind Franklin captured “Photo 51,” the key to DNA’s double helix. Her data, shared without her knowledge, helped Watson and Crick win a Nobel. She never got the prize, but today, her role in unlocking life’s blueprint is finally recognized.