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.

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.

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.

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.

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.

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

The 'Armamentarium' is a set of new gene therapy tools—including viruses that could shuttle therapies into the body—designed to fight brain diseases.

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

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.

In 2025, researchers in the UK began working on developing artificial DNA

The Synthetic Human Genome Project aims to one day construct human DNA, molecule by molecule, in the hopes of creating disease-resistant cells and synthetic chromosomes for study. However, critics warn it may be misused to create enhanced or modified humans.

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.

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.

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.

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.

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.

Epigenetic editing—altering gene expression by removing or adding chemical groups on DNA—is making significant strides in the lab, even lowering cholesterol in monkey experiments by about 70%. (Free w/email.)

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.)

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.

Explore the original goals of the Human Genome Project

The project goals emphasized DNA sequencing technologies and methods, which would lead to future treatments of genetic disorders. Exploring the project data's ethical and social implications was also considered.

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.

Fully sequenced human genome will help scientists better understand disease

April marks the 20-year anniversary of the completion of the Human Genome Project, a monumental achievement that provided the first map of the human genetic code and advanced our understanding of human biology, disease, and potential treatments....

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.)

How ALS (Lou Gehrig's Disease) might work, and what scientists are learning about it

Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder that affects the nerve cells (neurons) controlling muscle movement. As the motor neurons degenerate, they stop sending signals to the muscles, causing progressive muscle weakness and, eventually, death. This three-minute animation focuses on the mechanisms within the motor neurons that cause them to degenerate. By understanding these mechanisms, researchers hope to one day find a cure for ALS.

Multiple new research paths may lead to slowing (or even reversing) aging

Aging has always been inevitable, but fasting, epigenetic reprogramming, and parabiosis seem to help people stay young. By studying centenarians, memory, and even the humble roundworm, scientists are looking for the genetic basis to live not just a long life, but a healthy one.

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.

Breaking the genome into random segments accelerated the Human Genome Project

Hierarchical shotgun sequencing is a method for determining an organism's genome by fragmenting DNA before sequencing. By creating fragments with overlapping nucleotide bases, the DNA is reassembled by matching fragment ends.

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.

Gene expression patterns are similar between ASD, schizophrenia, and bipolar disorder

Postmortem brain tissue analysis suggests there are genetic and epigenetic similarities between individuals with autism, schizophrenia and bipolar disorder. All three conditions appeared to have activation of genes in astrocytes and suppression of specific genes that function at the junction between neurons, called synapses. (Some users may encounter a paywall.)

Dsup slightly unwinds DNA and changes shape to better cling to the molecule

The damage suppressor protein, which is exclusively found in tardigrades, has also been modeled as coating DNA and shielding it from radiation and the toxic byproducts of radiation damage. Dsup may become a fundamental ingredient in future DNA storage technologies.

Synthetic biology transforms cells into custom DNA foundries

At companies like Ginkgo Bioworks, researchers are reprogramming cells to act as workshops that can create custom molecules, such as medicines and fertilizers, by stitching together DNA sequences—often in novel combinations—before inserting them into an organism's genome.

Genes are the basic units of heredity

These segments of DNA—long molecules made of nucleotides that coil into chromosomes—code instructions for making specific proteins, which correspond to different traits. Approximately 98 to 99% of human DNA is non-coding, with functions beyond protein synthesis.

The Human Genome Project spawned numerous spinoff genetics projects

The Human Genome Project led to the development of techniques later applied to projects in microbial and plant biology, epigenomics, environmental and cancer genomes, and more. In the spirit of the HGP, data from these projects has been made freely available to develop new technologies.

The Human Genome Project met its goals, but its outcomes were overpromised.

See the history of DNA sequencing

DNA sequencing evolved from manual methods to automated, high-throughput technologies. The Human Genome Project was possible in the first generation of gene sequencing technology with the "chain termination method," which won developer Fredrick Sanger a Nobel Prize.

An overview of the Human Genome Project

The Human Genome Project was a groundbreaking global scientific effort to sequence the genome of humans and several organisms used in scientific research. The sequenced genome was created by combining the DNA of 20 people from Buffalo, New York.

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).

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.

Can humans delay or reverse old age?

We're not sure yet. Researchers at the University of California San Francisco are studying why some conditions and behaviors, such as low-oxygen environments and exercise, benefit the aging process, hoping to reveal potential health applications. Some of this research focuses on klotho, a naturally occurring age-regulating hormone named after the Greek Fate Clotho. Animal studies on klotho brain injections found subjects had improved memory recall and age-related degeneration resistance.

DNA carries the unique instructions that shape how each person grows and functions

The human genome contains over six billion DNA letters, organized into 46 chromosomes inherited from both parents. Genes—sections of DNA—serve as templates for making proteins, and variations in these sequences can affect how our bodies work or respond to the environment.

See how a novel gene editing technique called base editing can create changes in a single DNA base, using a more precise targeting approach than CRISPR-Cas9.

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

Doctors shift focus from extending lifespan to lengthening health span

As scientific advances extend the average human lifespan, many are turning their attention toward extending "health span." Health span refers to the number of years one is active and disease-free. The ultimate goal is to extend one’s health span to match one’s lifespan.

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.

Advance genetic research by playing these scientific video games

Computers produce so much information that researchers can't properly analyze all the data produced, and the overload can also lead computers to make mistakes. Researchers are increasingly turning to citizen scientists—members of the public who are willing to volunteer—to help them make sense of data when computers can't. This article details a few of the ways you can contribute to genetics research by playing video games.

Nineteen years after its conclusion, scientists finish what the HGP started

The Human Genome Project mapped 92% of the human genome sequence upon its completion in 2003, leaving unreachable DNA regions unmapped. PacBio HiFi DNA sequencing allowed its completion 19 years later, with the additional mapping of 200 million DNA letters.

Cancer is a group of diseases characterized by the uncontrolled growth of abnormal, mutated cells that can spread throughout the body.

Precision medicine, offering the right treatment at the right time for individuals, integrates genomics, data analytics, and AI to predict risks, personalize treatments, and improve patient outcomes.

Synthetic biology can prevent extinction by creating create disease-resilient plants and animals

Through gene editing and the deployment of artificial cells, scientists can leverage learnings from the genetic sequencing of animals with known resistances to protect endangered species. Gene editing of certain species, such as mosquitoes, can also reduce their ability to spread diseases like malaria between humans.

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.

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.