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

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.

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.

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 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.

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

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.

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.

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.

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

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

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 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.

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.)

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.

Less than 1% of people globally have schizophrenia, a syndrome strongly linked to genetics

Schizophrenia's causes remain largely unknown, though scientists suggest it's caused by multiple factors. Its symptoms include disruption of thought processes rather than the exhibiting of multiple personalities. This brief video provides an overview of the condition.

Many patients with psoriasis develop other autoimmune diseases, too

A small study published in 2024 found that nearly three-quarters of patients with psoriasis—a condition in which the body attacks healthy skin cells—also developed autoimmune disorders including thyroid diseases, connective tissue diseases, and more, suggesting such connections between these autoimmune disorders warrant further exploration.

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.'

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.

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.

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.

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.

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.

Traumatic childhood experiences heighten the risk of developing schizophrenia

Clinically termed as "adverse childhood experiences," events such as physical or mental abuse or the death of loved ones have repeatedly been linked to an increase in rates of developing schizophrenia later in life. The reasons behind this link remain under investigation.

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.

Bill Nye did not have children for fear of passing on ataxia

In his 2017 documentary, Nye revealed the congenital, neurological condition on his father's side of the family, which is characterized by a lack of balance and problems with fine motor movement. He has since learned he likely does not have the disease, though both his siblings have shown symptoms.

Some men may be at elevated risk of inheriting tinnitus

A 2017 Swedish Twin Registry study suggests that bilateral tinnitus—when tinnitus occurs in both ears instead of just one—appears to be heritable, at least in men.

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.

Genetics may account for nearly 67% of mosquito attractiveness.

More than 5 million Americans have more than one autoimmune disease

Overall, about 4.6% of the US population—15 million people—have an autoimmune condition. Some common examples include rheumatoid arthritis, psoriasis, type 1 diabetes, Grave's disease, and autoimmune thyroiditis.

Autism research has faced significant cuts under Trump

One of the largest areas of halted research was at the Department of Education where its Institute of Education Sciences had studies underway focused on developing and evaluating school-based interventions for students with autism. DOE was significantly cut back as part of federal government layoffs.

Watch this behind-the-scenes interview about the first person ever diagnosed with autism

Two reporters from The Atlantic tell the story behind their effort to track down the first diagnosed autism patient, Donald Gray Triplett, in Forest, Mississippi, and how his life turned out decades later.

Extremely rarely, there can be twins with different dads—but fewer than 20 such cases are documented worldwide

The non-identical twins, who would also be half-siblings, result from a rare biological phenomenon called heteropaternal superfecundation. Britain's first known twins with different dads, featured in this article, learned of each other's existence in recent years, when they were both 45. They discovered each other after taking DNA tests from Ancestry, a genealogy company.

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.

Roughly 10% of the world has SSAD—SAD’s milder, nonclinical cousin

Subsyndromal affective disorder is diagnosed when someone exhibits two of the nine major criteria for depression (but not more than five) as a result of seasonal changes. While it is milder than primary SAD, SSAD is still significant and impacts millions.

Five to ten percent of Alzheimer's cases are early-onset

Early-onset Alzheimer’s typically emerges around 40 to 50 years of age, with devastating effects. This video follows Brian, diagnosed with the disease at age 54, as he travels the country as an advocate for research and discusses the progressive mental fog of Alzheimer’s.

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.

Half of human DNA is inherited from each parent

Within most cells reside 23 pairs of chromosomes made of tightly wound DNA, and half of each pair is inherited from each parent. The 23rd pair consists of two X-shaped chromosomes, or one such chromosome paired with a Y chromosome, and determines biological sex.

Children of 9/11 Ground Zero responders are suffering from intergenerational trauma similar to what's seen among the children of Holocaust survivors, according to recent research.

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.)

Amish kids have far fewer allergies than the general population

Only about 7% of Amish children in a northern Indiana community have tested positive for common allergens in routine skin prick tests, whereas half of the general US population tests positive for them. Asthma is also extremely uncommon among the Amish, even when compared with other farming communities. Researchers are interested in exploring if approaches like exposing kids across the general population to Amish farm dust might stave off some allergies.

Autoimmune diseases affect between 5% and 10% of people worldwide, but their causes remain unknown

Autoantibodies—which attack the body—may be detectable in the body years before a patient develops symptoms, but some people may have detectable levels yet never go on to develop an autoimmune disease. This video discusses this and other unsolved mysteries with autoimmune disease.

More than 90% of American deaf children are born to hearing parents

The National Institute on Deafness and Other Communication Disorders have collated top statistics about hearing loss in the US including differences by age, racial groups, and other factors.

Stroke risk doubles each decade after age 55

While age is the greatest risk factor, genetics, diet, and overall health play a prominent role in determining individual stroke risk. Prevention focuses heavily on modifiable risk factors. High blood pressure is the single most important controllable risk factor, contributing to both types of stroke.

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.

Fertility treatments linked to increased risk of cancer among offspring

Recent research has explored potential links between increased childhood cancer occurrence, particularly leukemia, and assisted reproductive technology (ART). Though some studies have detected this type of association, researchers caution that it remains unclear if ART itself, fertility drugs, underlying infertility of the parents, or other unknown factors may explain any increased cancer numbers among ART-conceived children. Overall, the incidence of cancer in children, regardless of conception method, is very low.

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.

A rare measles complication is that the virus can linger in the body for years after apparent recovery and continue to replicate—leading to a progressive and fatal breakdown of the central nervous system that can occur decades after the initial infection.

Roughly 1 in every 4,300 individuals in the US has mitochondrial disease

Roughly 1,000 to 4,000 kids are born with these conditions each year in the US though many of the diseases are fatal. Mitochondrial disorders often affect the organs that require the most energy, including the heart, brain, and muscles.

Roughly 15 of every 1,000 people in the US have smell disorders

Anosmia is a lack of a sense of smell. It can be present at birth, related to diseases including Parkinson's, Alzheimer's, and COVID-19, or have unknown causes.

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