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

Gene therapy treats a disease by editing the disease's underlying DNA, replacing it with a functional variant.

Gene therapy can occur inside the body, but it can also be completed outside the body—with scientists treating cells in the lab, and then those corrected cells are transplanted back into the body.

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

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.

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.

Gene therapy is restoring hearing among kids with genetic deafness

Gene therapy for profound genetic deafness has been advancing in recent years, with multiple clinical trials enabling hearing at normal levels for the first time without hearing aids or cochlear implants. The therapies target hearing loss caused by mutations in the OTOF gene that codes for a protein called otoferlin. That protein normally plays a key role in relaying sound signals in synaptic transmission between the ear's inner hair cells and the auditory nerve.

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.

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.

In 2026, the FDA proposed a novel approach to expedite reviews of gene therapies for patients with rare genetic disorders such as cystic fibrosis, potentially bypassing the need for years-long clinical trials if approved.

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.

Changing a single letter in DNA can permanently alter an organism

Genetic mutations occur when cells replicate, which requires a copy of DNA to be created, and involve substituting, deleting, or inserting letters in a cell's genetic code. Mutations can be caused by normal cellular processes, chemical exposure (e.g., carcinogens), or radiation and may result in genetic disorders or genetic variations that drive evolution.

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

Scientists using gene therapy recently managed to regenerate retinal cells in the lab—a breakthrough for mammals that could potentially lead to future treatments for human retinal diseases.

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.

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.

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

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.

Restoring vision in impaired patients via CRISPR

Since CRISPR was revealed as a gene editing tool in 2012, it has been on an accelerated track to real-world applications. Among other clinical demonstrations, doctors have now injected a CRISPR treatment directly into eye cells, helping vision-impaired patients see shapes and colors again.

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.

Early research suggests CAR-T therapy might treat scleroderma, reducing skin thickening

Clinical data from a couple patients in 2025 indicated that one experimental CAR-T therapy called rese-cel was able to genetically reprogram T cells to eliminate certain problematic immune B cells that were causing the condition. The therapy reduced skin thickening and allowed the patients to halt using immunosuppressive medications and steroids.

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.

The scientist that biohacked a buff frog

If a tree frog was injected with a DNA mixture containing follistatin, a gene that may influence muscle growth, would it become buff? Josiah Zayner hopes so. By learning how to biohack animals, he hopes people are one step closer to feeling more comfortable "whipping up DIY gene therapy."

Alkaptonuria was the first identified genetic disorder

In 1902, a rare recessive mutation was determined to cause alkaptonuria—a disease that induces dark pigmentation of connective tissue. The responsible gene was not isolated until the 1990s.

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.

In 2023, the FDA approved gene therapy for sickle cell disease, enabling one-time infusion bespoke treatments that use a patient's own stem cells to effectively cure a painful condition that disproportionately affects people of African American descent.

The US FDA considered mitochondrial replacement therapy during 2014 hearings

An agency committee assessed if this approach could have undesirable ripple effects across multiple generations and whether a clinical trial involving this approach would be appropriate. As of 2026, the US has continued to prohibit this procedure though it is legal in other settings including the UK and Australia.

Scientists are using CRISPR to genetically modify felines so they don't trigger allergies in humans.

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.

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).

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

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.

US regulators have approved an at-home genetic test looking for BRCA gene mutations

The direct-to-consumer genetic test, approved by US regulators in 2018, examines 3 out of the more than 1,000 known breast cancer-linked genetic mutations. It looks for genetic variations that can increase risk for breast, ovarian, and other cancers. These mutations are most commonly found among Jewish people with Eastern European ancestry.

The first child born via mitochondrial replacement therapy was born in 2016

The healthy baby boy's mother carried genes for a rare mitochondrial disease called Leigh syndrome and after multiple miscarriages the family opted to try the controversial procedure. It was conducted by a US doctor in Mexico. The procedure is prohibited in the United States.

CRISPR allows scientists to cut out and replace faulty or unwanted DNA, which can help treat genetic disorders, such as sickle cell disease, and create genetically modified organisms, such as allergen-free foods.

Eight British children have been born via mitochondrial replacement therapy

In July 2025, a decade after British lawmakers signed off on allowing three-parent IVF, scientists announced that eight healthy babies had already been born using this approach. The news was included in a pair of research articles published in a peer-reviewed journal that noted the oldest kids were already more than two years old, and that they were hitting developmental milestones as expected. (Some users may encounter a paywall.)

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.