Even if you have some ASD-linked gene variations you may not develop ASD

Risk factors linked with ASD include older parents, preterm births, and toxic prenatal exposures

Though researchers agree that there is a strong genetic component to ASD development, certain environmental factors heighten that risk, with studies suggesting older parents, premature birth, maternal obesity, and air pollution exposure in utero all elevate risks of ASD development. There is no connection between receiving vaccines and ASD development.

The sibling of someone with autism has a 20% chance of developing ASD

The disorder is strongly linked with inheritance, and research suggests that if one child has ASD, there's a one in 5 chance the next child will develop autism, which is seven times more likely than the general population.

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.)

Autism rate increases are mostly among those with milder symptoms, not individuals with severe symptoms.

Multiple genes are associated with Alzheimer's risk, but one particularly well-known disease-associated gene is apolipoprotein E (APOE), which typically encodes a protein that helps carry cholesterol and other fats in the bloodstream.

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.

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.)

Autism occurs among women, too

Males have higher rates of diagnosed autism than females, but recently scientists and people with autism have been exploring if females have been disproportionately missed in screening and if girls are perhaps masking their symptoms better, leading to missed diagnoses.

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.

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.

Autism spectrum disorder, defined in 2013, was previously categorized as numerous disorders.

MS risk is shaped by geography, not just genes

Latitude—and related vitamin D exposure—seems to affect MS risk. People who migrate from a high-risk MS latitude (like northern Europe or the northern US) to a lower-risk latitude (like tropical areas) before age 15 tend to adopt the lower risk of their new country—suggesting there's a critical window for environmental exposure.

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.

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.

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.)

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.

80% of schizophrenia cases may be inherited

Some research suggests that anywhere between 60% and 80% of people with schizophrenia had genes that predisposed them to the syndrome. That high rate has fueled interest in further exploration of what environmental and lifestyle factors cause some people with that genetic risk to develop the disease when others with the same genetic risks do not.

Roughly 1 in 125 people have autism spectrum disorder globally

The disorder has been increasingly diagnosed as its definition has grown broader and as clinicians have become more adept at identifying it—with some estimates suggesting the figures are much higher. These figures include people across the spectrum, some of whom live mostly independent lives, while others require life-long care and assistance.

Modern conveniences may be contributing to allergy increases

A combination of genetics and how the environment changes our genes are likely contributing to the rise in allergies. But daily conveniences, such as dishwashers and packaged baby food, also change the level of bacterial exposures in early life, with potential implications for allergy development, experts from Mount Sinai Health System state in this video discussion.

Exercise can change your genes without changing your DNA.

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.

Polygenic scores aim to predict traits based on the contributions of many genes

These novel tests for multifactorial conditions evaluate the probability of traits like elevated blood pressure, diabetes, or high cholesterol based on what researchers currently know about different gene variants and their links to various traits. The tests are predictive, not definitive, partly because environmental factors influence the expression of genes. What's more, knowledge about cumulative effects from individual genes continues to evolve. The American Society for Reproductive Medicine states that these tests are too unreliable and nascent for clinical use.

A growing number of autism researchers with the disorder are reshaping the field.

Twin studies suggest celiac disease is among the more genetically-linked disorders

Genetics appear to play a larger part in this condition's development than many other autoimmune disorders. Research shows a roughly 60-75% genetic probability that if one identical twin has it, the other will too. Celiac triggers a small intestine attack when people eat gluten, a protein commonly found in wheat, barley, and rye.

Nature versus nurture: Are you the result of your genes or your environment?

Dr. Nancy Segal breaks down how research on twins has revealed just how much our genes influence our behavior and traits—but insists they aren't everything. Catch up on the latest in the nature versus nurture debate.

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.

Gut bacteria are evolving and can acquire as many as 100 new genes per year, on average.

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.

Some data links schizophrenia to older paternal age and birth complications

Yet both associations are not yet considered firm enough to definitively be causative. Schizophrenia is a multi-causal syndrome and a mixture of factors, including genetics, are widely believed to be behind its development.

Diagnosis as an adult can have huge benefits, including helping someone with ASD to feel real

This first-person account of a woman diagnosed with autism at age 31 covers her experience of why it was useful for her to receive her diagnosis as an adult and how it helped her to understand her life and her feelings of 'being an imposter.'

Genetics play a role in the reliability of the body's biological clocks

Growing evidence suggests genetics influence when, how long, and how well one sleeps, meaning insomnia may have a genetic component. While exact insomnia biomarkers have yet to be determined, some genes, including those related to psychiatric disorders, have been implicated.

Autism and ADHD may have overlapping symptoms and someone can have both disorders

This video explores similarities and differences between these two disorders, which both have genetic causes. Challenges with attention, hyperactivity, and impulsivity are typical of ADHD. Fidgeting, problems picking up on social cues, emotional dysregulation, and being oblivious to time may occur with both disorders—though the impetus for these behaviors may differ.

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.

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

Move over gene editing, scientists can edit your epigenome

Instead of deleting genes, epigenetic editing modulates their activity. A new paper tests if it’s able to undo a genetic effect of early alcohol exposure.

Lack of Vitamin D seems to be one major factor fueling MS risk

Researchers believe that a combination of factors can elevate MS risk, including a lack of vitamin D exposure in different locales, genetic history, cigarette smoke exposure, and Epstein-Barr virus infection.

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.

Autoimmune disease prevalence and incidence are on the rise—but no one knows why

Researchers theorize that environmental factors, including shifts to less healthy diets, air pollution, infections, stress, climate change, and exposures to xenobiotics—substances like pesticides, plastics, and toxins that incite immune responses—may all be fueling epigenetic changes to our bodies that make people's immune responses go awry.

Almost 80% of people diagnosed with autoimmune diseases are women

Yet it's still unanswered what may account for that difference. To better understand this disparity researchers are exploring factors including hormonal changes that occur around puberty, pregnancy, and menopause, as well as gut microbe differences, and aspects of X-chromosome protein-coding genes. (Some users may encounter a paywall.)

Aurea's father came upon polygenic risk scores after reading a news article about it

Rafal Smigrodzki, a neurologist with a PhD in genetics, first heard of the polygenic risk score offering after reading about it in a 2017 MIT Technology Review feature that focused on the company they eventually used, Genomic Prediction.

Twin studies helped scientists understand why mosquitoes like some of us more than others

A combination of carbon dioxide output, skin chemistry, genetic factors, hormones, and clothing choice can make us particularly vulnerable to mosquito bites. Watch how mosquitoes responded to one man in the video versus his wife, a research approach typically conducted with identical and fraternal twins to test mosquito attractiveness.

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.

How epigenetics blurs the line between nature and nurture

An exploration of the study of how behaviors and environment affect the way genes work — and how that complicates the nature-versus-nurture debate.

1 in 31 kids in the US has autism

That figure comes from an analysis published by the US Centers for Disease Control and Prevention based on data gathered on eight-year-olds in 2022. Its figures mark a significant increase from 2000, when the estimated autism figure was one in 150, but improvements in diagnosis and changes to the disease criteria that broadened the diagnostic criteria are widely believed to be driving that increase.

Even in recent history, adaptations to the environment drove human evolution

Through genetics, environmental pressures, and cultural influences, humans have evolved to tolerate lactose, develop varying skin pigmentation, and acquire genetic resistance to diseases like bubonic plague. The metabolic and digestive systems of Indigenous peoples have adapted to their diet, which is influenced by the availability of food and water.

Heatstroke can reprogram your DNA, putting survivors at risk of future health problems.

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.

Most people with East Asian ancestry are genetically predisposed to be less smelly.

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.

Adults are developing food allergies that they didn’t have as children

Research published in 2019 found that almost half of 40,000 surveyed adults with food allergies developed a new food allergy as adults, underscoring that our immune systems may newly misclassify substances later in life.