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Science News About Genetics

Our Brains Harbor “Residual Echo” of Neanderthal Genes

Science Update

Researchers have produced the first direct evidence that parts of our brains implicated in mental disorders may be shaped by a “residual echo” from our ancient past. The more a person’s genome carries genetic vestiges of Neanderthals, the more certain parts of his or her brain and skull resemble those of humans’ evolutionary cousins that went extinct 40,000 years ago.

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NIMH Grantee Wins One of Science’s Most Coveted Prizes

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NIMH grantee Karl Deisseroth, M.D., Ph.D., of Stanford University, has been awarded one of science’s most generous prizes. A German foundation presented the inventor of technologies that are transforming neuroscience with its 4 million euros Fresenius Prize.

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Estrogen Alters Memory Circuit Function in Women with Gene Variant

Science Update

Brain scans reveal that fluctuations in estrogen can trigger atypical functioning in a key brain memory circuit in women with a common version of a gene. Since working memory function is often disturbed in mental disorders, such gene-hormone interactions are suspect mechanisms that may confer risk.

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Delayed Walking May Signal Spontaneous Gene Anomalies in Autism

Science Update

Researchers have discovered a pattern of genetic glitches and behavioral features, such as delayed walking, in some cases of autism spectrum disorder (ASD) that could ultimately lead to identification of subgroups and improved treatment.

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A Third of Suspect Mutations in ASD Just “Noise”

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Researchers have narrowed suspected genetic causes of autism and related developmental disabilities by ruling out what they call the “noise of benign variation.”

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Sex Hormone–Sensitive Gene Complex Linked to Premenstrual Mood Disorder

Press Release

Researchers have discovered molecular mechanisms that may underlie a woman’s susceptibility to disabling irritability, sadness, and anxiety in the days leading up to her menstrual period.

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Molecular Tool Parses Social Fear Circuit Intertwined with Aggression Hub

Science Update

A genetic engineering tool has disentangled seemingly hopelessly intertwined brain circuits for social fear and aggression in mice.

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Worldwide Study Seeks to Unlock the Brain’s Genetic Code

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Big data pinpoints genetic variation linked to brain volume and risk for disorders.

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NIH Nearly Doubles Investment in BRAIN Initiative Research

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NIH’s third round of grants to support the goals of the Brain Research through Advancing Innovative Neurotechnologies (BRAIN) Initiative total just over $150 million.

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Powered-Up Probe ID’s Schizophrenia Genes That Stunt Brain Development

Science Update

Scientists have pinpointed several schizophrenia-related gene variants that alter expression of other genes in illness-implicated circuitry of the human brain.

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Schizophrenia, Autism Risk Gene Trajectories Point to Shared Causes

Science Update

Schizophrenia, autism risk gene trajectories point to shared causes

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Tapping Crowd-Sourced Data Unearths a Trove of Depression Genes

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Scientists have discovered 15 genome sites – the first ever – linked to depression in people of European ancestry. But – in a twist – the researchers didn’t have to sequence anyone’s genes! Instead, they analyzed data already shared by people who had purchased their own genetic profiles via an online service and elected to participate in its research option.

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Genome-Wide Study Yields Markers of Lithium Response

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Genome-Wide Study Yields Markers of Lithium Response

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Schizophrenia’s Strongest Known Genetic Risk Deconstructed

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Versions of a gene linked to schizophrenia may trigger runaway pruning of the teenage brain’s still-maturing communications infrastructure.The gene switched on more in people with the suspect versions, who faced a higher risk of developing the disorder.

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NIH-supported NeuroBioBank Joins Autism BrainNet in Brain Donation Initiative

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Two of the world’s largest brain tissue banks unify efforts to collect and distribute a critical number of brain donations for important autism research.

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A Patient’s Budding Cortex -- in a Dish?

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Scientists have perfected mini cultured 3-D structures that grow and function much like the outer mantle – the key working tissue, or cortex – of the brain of the person from whom they were derived.

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GTEx Findings Reveal New Insights into how DNA Differences Influence Gene Activity, Disease Susceptibility

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Data resource begins to reveal how genetic variability influences key tissues in health and disease.

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Disorders Share Risk Gene Pathways for Immune, Epigenetic Regulation

Science Update

Risk genes for different mental disorders work through same pathways

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Largest Autism Gene Dragnet Fingers 33 Prime Suspects

Science Update

Many patients with psychosis develop health risks associated with premature death early in the course of their mental illness, researchers have found.

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Schizophrenia’s Genetic “Skyline” Rising

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The largest genomic dragnet of any psychiatric disorder to date has unmasked 108 chromosomal sites harboring inherited variations in the genetic code linked to schizophrenia, 83 of which had not been previously reported.

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Common Gene Variants Account for Most Genetic Risk for Autism

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Most of the genetic risk for autism comes from versions of genes that are common in the population rather than from rare variants or spontaneous glitches.

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Shining a Light on Memory

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Using a flash of light, scientists have inactivated and then reactivated a memory in genetically engineered rats. The findings – the first cause-and-effect evidence that strengthened connections between neurons are the stuff of memory – add to mounting evidence that the brain represents a memory by forming assemblies of neurons with strengthened connections.

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Genes Impact Suspect Cortex Areas More as Youth Mature

Science Update

Later evolving and maturing brain areas, which also are those most implicated in mental illness, showed gradually increasing heritability, peaking by late adolescence – the age-of-onset for most mental disorders. New findings hold promise for understanding how age plays an important role in gene-environment interactions that underlie the disorders.

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Five Major Mental Disorders Share Genetic Roots

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Five major mental disorders share some of the same genetic risk factors, the largest genome-wide study of its kind has found.

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Differences in On/Off Switches Help Explain How the Human Brain Evolved

Science Update

A recent NIMH-funded study identified small regions of the genome that are uniquely regulated in human neurons, but not in primate neurons. The findings provide insight into human intellectual function and risk for human diseases, including autism and Alzheimer’s disease.

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Different Genes, Same Risk Pathway in Schizophrenia

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Work by NIMH-supported scientists illustrates the variability of the genes and biology underlying illnesses like schizophrenia.

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Gene Variants Implicated in Extreme Weight Gain Associated with Antipsychotics

Science Update

A small study suggests that people with certain genetic variants may be more susceptible to extreme weight gain if they take certain antipsychotic medications.

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NIH Researchers Use Brain Imaging to Understand Genetic Link between Parkinson’s and a Rare Disease

Science Update

A rare metabolic disorder is helping researchers at the National Human Genome Research Institute (NHGRI) and the National Institute of Mental Health (NIMH) uncover new clues about the biology underlying Parkinson’s disease.

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Spontaneous Gene Glitches Linked to Autism Risk with Older Dads

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A trio of new studies have found that sequence changes in parts of genes that code for proteins play a significant role in autism spectrum disorders (ASDs).

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Friendly-to-a-Fault, Yet Tense: Personality Traits Traced in Brain

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NIH scientists have used three different types of brain imaging to pinpoint a circuit hub buried deep in the front center of the brain in people with Williams syndrome, a rare genetic disorder characterized by overly gregarious yet anxious behavior.

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Gene Regulator in Brain’s Executive Hub Tracked Across Lifespan – NIH study

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For the first time, scientists have tracked the activity, across the lifespan, of an environmentally responsive regulatory mechanism that turns genes on and off in the brain’s executive hub. Among key findings of the study by National Institutes of Health scientists: genes implicated in schizophrenia and autism turn out to be members of a select club of genes in which regulatory activity peaks during an environmentally-sensitive critical period in development.

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Turning on Dormant Gene May Hold Key for Correcting a Neurodevelopmental Defect

Science Update

Scientists working in cell culture and in mice have been able to correct the loss of gene activity underlying a rare but severe developmental disorder by turning on a gene that is normally silenced in brain cells.

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Suspect Gene Variants Boost PTSD Risk after Mass Shooting

Science Update

College students exposed to a mass shooting were 20-30 percent more likely to later develop post traumatic stress disorder (PTSD) symptoms if they harbored a risk version of a gene, NIMH-funded researchers have discovered.

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Our Brains Are Made of the Same Stuff, Despite DNA Differences

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Despite vast differences in the genetic code across individuals and ethnicities, the human brain shows a “consistent molecular architecture.” The finding is from a pair of studies that have created databases revealing when and where genes turn on and off in multiple brain regions through development.

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Autism Blurs Distinctions Between Brain Regions

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Autism blurs the molecular differences that normally distinguish different brain regions, a new study suggests. Among more than 500 genes that are normally expressed at significantly different levels in the front versus the lower middle part of the brain’s outer mantle, or cortex, only 8 showed such differences in brains of people with autism, say researchers funded in part by the National Institutes of Health.

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Autism Blurs Brain Tissue’s Distinctiveness

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Autism blurs the molecular differences that normally distinguish different brain regions, a new study suggests. Among more than 500 genes that are normally expressed at significantly different levels in the front versus the lower middle part of the brain’s outer mantle, or cortex, only 8 showed such differences in brains of people with autism, say researchers funded, in part, by the National Institutes of Health.

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Rare Gene Glitch May Hold Clues for Schizophrenia – NIH-funded Study

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Scientists are eyeing a rare genetic glitch for clues to improved treatments for some people with schizophrenia – even though they found the mutation in only one third of 1 percent of patients.

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Transgenic Mouse Offers a Window on Gene/Environment Interplay: Prenatal Infection Alters Behavior in Genetically Vulnerable

Science Update

Experiments in transgenic mice have provided a novel glimpse of how a prenatal infection could interact with a specific gene variant to cause behavioral and neurologic changes in adults that mirror those seen in major psychiatric disease.

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NIH launches Genotype-Tissue Expression Project

Press Release

The National Institutes of Health today announced awards to support an initiative to understand how genetic variation may control gene activity and its relationship to disease. Launched as a pilot phase, the Genotype-Tissue Expression (GTEx) project will create a resource researchers can use to study inherited susceptibility to illness and will establish a tissue bank for future biological studies.

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Imaging Reveals Abnormal Brain Growth in Toddlers with Fragile X

Science Update

Differences in brain growth patterns between preschool-aged boys with Fragile X syndrome (FXS), the most common cause of inherited intellectual disability, and their healthy peers suggest that the disorder may affect brain development both before and after birth, according to NIMH-funded researchers. In addition, their findings indicate ages 1–5 are an important window for better understanding the effects of FXS on brain development. The study was published May 18, 2010, in the Proceedings of the National Academy of Sciences.

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Impaired Brain Connections Traced to Schizophrenia Mutation

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The strongest known recurrent genetic cause of schizophrenia impairs communications between the brain’s decision-making and memory hubs, resulting in working memory deficits, according to a study in mice.

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Gene’s Impact on Forgetting a Fear-Based Memory Same in Humans and Mice

Science Update

Both humans and mice carrying a variant of a gene that plays a role in memory were slow to learn to forget a fear-based memory. The parallels in gene effects observed in mice and humans in this work means that investigation using the mouse model can provide insights into effects in humans; results may inform treatment approaches to anxiety disorders such as post-traumatic stress disorder.

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Genes and Circuitry, Not Just Clinical Observation, to Guide Classification for Research

Science Update

NIMH is launching a long-term project aimed at ultimately improving treatment and prevention by studying classification of mental illness, based on genetics and neuroscience in addition to clinical observation. The Research Domain Criteria (RDoC) project is not intended to replace psychiatry’s existing diagnostic system for practitioners and will proceed in an independent direction, said Bruce Cuthbert, Ph.D., Director of the NIMH Division of Adult Translational Research, who is directing the effort. By taking a fresh look – without preconceived categories – the project aims to improve the validity of classification for researchers.

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Same Genes Suspected in Both Depression and Bipolar Illness

Science Update

Researchers, for the first time, have pinpointed a genetic hotspot that confers risk for both bipolar disorder and depression. People with either of these mood disorders were significantly more likely to have risk versions of genes at this site than healthy controls. One of the genes, which codes for part of a cell’s machinery that tells genes when to turn on and off, was also found to be over-expressed in the executive hub of bipolar patients’ brains, making it a prime suspect. The results add to mounting evidence that major mental disorders overlap at the molecular level.

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Telephone-based Depression Treatment Program Effective While Cost Efficient

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Patients who receive structured, telephone-based support to manage their depression gain significant benefits with only moderate increases in health care costs compared to those who receive usual care, according to an NIMH-funded analysis published in the October 2009 issue of the Archives of General Psychiatry.

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Atlas Will Reveal When and Where Genes Turn On in the Brain

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When and where in the brain a gene turns on holds clues to its possible role in disease. For example, a recent study found that forms of a gene associated with schizophrenia are over-expressed in the fetal brain, adding to evidence implicating this critical developmental period.

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Schizophrenia Linked to Over-expression of Gene in Fetal Brain

Science Update

A gene called DISC1, (for “disrupted in schizophrenia”) has been a leading contender among possible genetic causes since it was implicated in schizophrenia in a large Scottish clan two decades ago. The DISC1 gene codes for a protein important for brain development, as well as for mood and memory – functions that are disturbed in schizophrenia. However, until now there have been few clues as to how DISC1 might increase risk for the chronic mental disorder.

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Schizophrenia and Bipolar Disorder Share Genetic Roots

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A trio of genome-wide studies – collectively the largest to date – has pinpointed a vast array of genetic variation that cumulatively may account for at least one third of the genetic risk for schizophrenia. One of the studies traced schizophrenia and bipolar disorder, in part, to the same chromosomal neighborhoods.

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Much Touted “Depression Risk Gene” May Not Add to Risk After All

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Stressful life events are strongly associated with a person’s risk for major depression, but a certain gene variation long thought to increase risk in conjunction with stressful life events actually may have no effect, according to researchers funded by the National Institute of Mental Health (NIMH), part of the National Institutes of Health. The study, published in the June 17, 2009, issue of the Journal of the American Medical Association, challenges a widely accepted approach to studying risk factors for depression.

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Gene On/Off Instructions Inherited Via Shadowy Mechanism

Science Update

The first large-scale study of its kind in twins has turned up evidence that we inherit instructions for the turning on and off of genes via mechanisms beyond the traditional sequence differences in the genetic code. Moreover, the results suggest that early random errors in replicating these instructions may trump environmental influences in shaping us.

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Anxious and Depressed Teens and Adults: Same Version of Mood Gene, Different Brain Reactions

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An NIMH study using brain imaging shows that some anxious and depressed adolescents react differently from adult patients when looking at frightening faces.

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Genomic Dragnet Finds Clues to Likely Suspects in Alzheimer’s

Science Update

In the first study of its kind, researchers have pinpointed four genes likely associated with risk for the most common, late-onset form of Alzheimer’s disease, including a very strong candidate on chromosome 14.

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Genes That Turn On Together Hold Secrets of Brain’s Molecular Instructions

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For the first time, scientists have mapped groups of genes that turn on together in the human brain, revealing a kind of Rosetta Stone of its molecular organization.

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Viral Genetic Underpinnings of HIV-associated Dementia Explored

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A new study identifies differences between genetic variants of HIV that are associated with HIV-associated dementia (HAD).

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Gene Associated with Social Behavior in Animals Has Similar Effects in Human Males

Science Update

A gene variant related to the hormone vasopressin appears to be associated with how human males bond with their partners or wives, according to an NIMH-funded study.

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Mice Expressing Human Genes Bred to Help Unravel Mental Disorders

Science Update

New mouse strains engineered to express human genes related to mental disorders are being developed under a recently-launched grant program from NIMH’s Division of Neuroscience and Basic Behavioral Science.

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One Gene Overrides Another to Prevent Brain Changes that Foster Depression

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For what appears to be the first time in humans, scientists have detected an interaction between genes that may help prevent brain changes that increase vulnerability to depression.

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Genetic Tags Reveal Secrets of Memories’ Staying Power in Mice

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A better understanding of how memory works is emerging from a newfound ability to link a learning experience in a mouse to consequent changes in the inner workings of its neurons. Researchers, supported in part by the National Institutes of Health’s National Institute of Mental Health (NIMH), have developed a way to pinpoint the specific cellular components that sustain a specific memory in genetically-engineered mice.

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Scans Reveal Faulty Brain Wiring Caused by Missing Genes

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An NIMH study using an emerging imaging technology has discovered faulty wiring in the brains of people with Williams Syndrome, a rare genetic disorder that affects some aspects of thinking.

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IQ Boost From Breast Milk Linked to Gene-Environment Interaction

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A new study shows that the intellectual boost associated with breast milk is only attained if a child has inherited one of two versions of a specific gene.

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Schizophrenia-Related Gene Linked to Imbalance in Dopamine Pathways

Science Update

Forms of a gene known to increase risk for schizophrenia may create an imbalance in brain pathways for dopamine, suggests a recent study by NIMH scientists.

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Bipolar Disorder Phenome Database May Aid Search for Related Genes

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Early findings from the recently launched Bipolar Disorder Phenome Database were published in the August 2007 issue of the American Journal of Psychiatry.

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Suspect Schizophrenia Genes Act Together to Thwart Working Memory

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Two gene variants implicated in schizophrenia interact to degrade the brains ability to process information, NIMH researchers have discovered.

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Gene Triggers Obsessive Compulsive Disorder-Like Syndrome in Mice

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Using genetic engineering, researchers have created an obsessive-compulsive disorder (OCD) - like set of behaviors in mice and reversed them with antidepressants and genetic targeting of a key brain circuit. The study, by National Institutes of Health (NIH) -funded researchers, suggests new strategies for treating the disorder.

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New Studies Search for Clues to Mental Illness in Gatekeepers of Gene Expression

Science Update

What goes awry in the brain to cause mental illness may ultimately be traced to glitches in genes - but not necessarily the parts of genes commonly suspected.

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Gene Predicts Better Outcome as Cortex Normalizes in Teens with ADHD

Science Update

Brain areas that control attention were thinnest in children with attention deficit hyperactivity disorder (ADHD) who carried a particular version of a gene in a study by the National Institutes of Healths (NIH) National Institute of Mental Health (NIMH).

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Genetic Roots of Bipolar Disorder Revealed by First Genome-Wide Study of Illness

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The likelihood of developing bipolar disorder depends in part on the combined, small effects of variations in many different genes in the brain, none of which is powerful enough to cause the disease by itself, a new study shows.

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Cortex Area Thinner in Youth with Alzheimer’s-Related Gene

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A part of the brain first affected by Alzheimer’s disease is thinner in youth with a risk gene for the disorder, a brain imaging study by researchers at the National Institute of Mental Health (NIMH), one of the National Institutes of Health (NIH), has found.

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Gene Knockout Unleashes Manic Mouse

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Mice engineered to lack a specific gene showed behaviors similar to human mania in a study funded in part by NIMH; they were hyperactive, slept less, appeared less depressed and anxious, and craved sugar, cocaine and pleasure stimulation.

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Tiny, Spontaneous Gene Mutations May Boost Autism Risk

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Tiny gene mutations, each individually rare, pose more risk for autism than had been previously thought, suggests a study funded in part by the National Institute of Mental Health, a component of the National Institutes of Health.

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Largest-ever Search for Autism Genes Reveals New Clues

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The largest search for autism genes to date, funded in part by the National Institutes of Health (NIH), has implicated components of the brain’s glutamate chemical messenger system and a previously overlooked site on chromosome 11.

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Common Gene Version Optimizes Thinking — but With a Possible Downside

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Most people inherit a version of a gene that optimizes their brain’s thinking circuitry, yet also appears to increase risk for schizophrenia, a severe mental illness marked by impaired thinking, scientists at the National Institutes of Health’s (NIH) National Institute of Mental Health (NIMH) have discovered.

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New Tests May Help Researchers Detect Genetic Basis For Autism

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Researchers have developed a set of behavioral tests in mice that mimic the core features of autism and may prove useful in detecting a genetic basis for the deficits in social interactions and rigid thinking seen in the disorder.

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