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. (Paywall may apply.)

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, 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.

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.

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.

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.

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.)

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.

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.

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.

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.

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.

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.)

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.

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....

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.

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.

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.

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.

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.

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.

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).

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.)

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.

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.

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.

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.

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.

Why genetic testing for Alzheimer's risk may not be right for you

Medical experts warn that completing Alzheimer's testing for late-onset versions of the disease can be fraught, in part because there's a shortage of genetic counselors to help navigate the findings and their potential implications, including for one's finances. Learning you have one or two copies of the APOE4 gene variant, which elevates Alzheimer's risk, can be panic-inducing, but an elevated risk for the disease is not the same as saying it definitely will develop.

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.

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.

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.

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.

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 tests aren't always actionable, which is one reason genetic counselors are so vital

This podcast interview with a Harvard Medical School professor focused on cancer genetics and prevention discusses the specifics of genetic testing and insights and the challenges of processing the outcomes of the testing and what may be actionable—or not.

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.