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.

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 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 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.

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

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 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.

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.

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.)

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.

‘Hope for Healing’: The first-ever use of an in utero stem cell treatment

In 2023, researchers at UC Davis performed the first-ever fetal stem cell transplant, attempting to cure a case of spinal bifida prior to childbirth using stem cells derived from the placenta. The trial, and others including an effort to treat muscular dystrophy, highlight the potential power of stem cell therapy.

Peptides like GLP-1 account for 31 of 370 new drugs approved by the US FDA between 2016 and 2023.

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 first-of-its-kind clinical trial taps livers from gene-edited pigs to clean blood

The experimental dialysis-like treatment from United Therapeutics, eGenesis, and OrganOx, is designed to help people with liver failure. The therapy, which involves attaching the modified pig liver externally, filters a patient’s blood so their own livers can temporarily rest and perhaps heal.

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.

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 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.

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

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

Many of the new prenatal genetic tests for rare genetic conditions are inaccurate

Established screening tests for Down syndrome in utero are reliable and accurate. But a New York Times investigation into expanded prenatal genetic tests for very rare diseases—much rarer than Down syndrome—found that more than 80 percent of the positive test results turned out to be wrong based on follow-up testing. These expanded tests for rare diseases are performed from a blood draw at 10 weeks of pregnancy and aim to detect chromosomal abnormalities linked to rare diseases. Companies that offer these controversial tests counter that it's only a screening test—not a diagnosis—picking up true positives and noting that patients can and should be counseled about what the findings mean. (Some users may encounter a paywall.)

The US FDA recently tried to regulate the expanded prenatal genetic tests

The agency proposed a new rule in 2023 to make it explicit that these types of tests are devices under existing law and clarify that that the agency could move to regulate them. They finalized a regulatory change in 2024 that added the words "including when the manufacturer of these products is a laboratory" to an existing law, but a federal district court vacated that edit in March 2025—returning the law to as it was before.

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.)

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.)

Silicon Valley startups Orchid, Nucleus, and Genomic Prediction are selling so-called polygenic tests for prospective parents

These tests claim to show how at-risk a hypothetical baby would be for genetic syndromes. The newfound industry has prompted ethical and medical debates, with critics questioning their accuracy and highlighting the potential problems behind pursuing the perfect baby.

A new daily MS pill is seeking regulatory approval in 2026

In clinical trials, Roche's fenebrutinib showed promise treating primary progressive MS and doubling relapse-free time in patients with relapsing MS as compared to existing treatment. But some liver damage and two possible drug-related deaths in the trials may make it difficult for the drug to net approval. (Some users may encounter a paywall.)

As of February 2025, there are more than 150 clinical trials using CRISPR technology

The clinical trials are designed to determine whether experimental CRISPR-related therapies are safe and effective. The majority of trials involve treatments for blood disorders, including beta thalassemia.

Scientists may have discovered why gene-edited pig kidneys are rejected in humans

In November 2025, researchers studying how a brain-dead donor’s body responded to the transplantation of a genetically engineered pig kidney, published that they’ve identified immune system reactions that may explain why these pig organs get rejected. What’s more, they were able to reverse the rejections with an already available drug combination and the kidney functioned well. They also pinpointed a way to detect a potential rejection up to five days sooner.

New eye implant clinical trial recruiting in 2026

University of Southern California researchers have launched a phase 2b clinical trial of a stem cell implant designed to restore vision in people with advanced dry macular degeneration. Patients will be randomized to receive the stem cell implant or a simulated procedure and placebo implant. This type of larger, second-stage clinical trial is designed to confirm efficacy and dosing and to look for side effects. It's one of the stages that precedes the US Food & Drug Administration approval of a device.

Using artificial wombs to improve preterm infant health outcomes

Researchers at a hospital in the US have successfully used artificial wombs to care for preterm lambs and are now looking at the possibility of human trials. This nine-minute video includes interviews with the researchers and explains the reasoning...

A clinical trial is underway in 2026 to help kidney transplant recipients avoid a lifetime of immunosuppressing drugs

This later-stage clinical trial, in Chicago and Taiwan, evaluates the efficacy and safety of a new cellular therapy that may be swapped in for immunosuppressing drugs among kidney transplant recipients. The study randomizes people to either receive standard immunosuppressants or this cellular therapy and fewer immunosuppressants. It only includes kidney transplant recipients receiving organs from live donors so transplant surgery timing won't hinge on the unpredictable schedule of performing surgery and follow-up care when a donor dies.

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

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.

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

Scientists found that an additional copy of chromosome 21 causes the disease and developed an approach to stain chromosomes so they could be manually sorted and counted, which is called karyotyping. The breakthrough discovery by Marthe Gautier, a young French doctor and cytogenetics researcher, was appropriated by a male colleague, who listed himself as the lead author of the study reporting the finding.

Pregnancy at older ages increases the chances of fetal abnormalities

Chromosomal irregularities are more likely at older maternal ages so genetic testing for a fetus of mothers-to-be at age 35 and older is often recommended. Conditions that can be screened for in utero include cystic fibrosis, Tay-Sachs disease, sickle cell disease, Down syndrome, spina bifida, Duchenne muscular dystrophy, and more.

GLP-1s are netting interest for treating autoimmune diseases, but are considered experimental

Already used to treat type 2 diabetes, the novel medications are showing some early promise in experimental studies at reducing inflammation and treating autoimmune conditions including rheumatoid arthritis and inflammatory bowel conditions. But researchers caution that side effects are still under investigation—rarely the medication has caused lupus, an autoimmune disease.

Australia legalized 3-parent IVF in 2022

It was the second country, after the UK, to legalize the procedure, which is still prohibited in the US. There are more than 300 rare mitochondrial diseases that can be passed from a mother to her 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.

Stem cell therapy has shown promise in treating spinal injuries in an early-stage clinical trial.

Four frozen embryos in the US were created via 3-parent IVF technique

Columbia University researchers created four embryos using mitochondrial replacement therapy for four female patients who didn't want to pass on mitochondrial diseases to their children. Yet US law restricts the researchers from implanting the embryos so they remain frozen. (Some users may encounter a paywall.)