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Science News About Genetics

Swarm of human immunodeficiency virus. Credit: istock/fpm.
Decades of Dedication and Collaboration: Unraveling the HIV Mystery

75th Anniversary

In celebration of NIMHs 75th anniversary, we reflect on decades of work by the institute to understand and eradicate HIV.

Illustration of an X chromosome cut open to expose a piece of the DNA strand.
Researchers Expand Understanding of Genetic Mechanisms Underlying Fragile X Syndrome

An NIMH-supported study of the 3D genome revealed widespread silencing of genes with important roles in brain function in fragile X syndrome and related disorders.

Spatial distribution of diverse cell types in the mouse brain. Here, MERFISH was used to measure 500 genes in the mouse brain to reveal the complex distribution of cell types throughout the brain. Courtesy of Yao/van Velthoven/Zeng, Allen Institute.
Scientists Unveil Complete Cell Map of a Whole Mammalian Brain

For the first time ever, an international team of researchers has created a complete cell atlas of a whole mammalian brain.

Illustration of abstract brain on blue background.
Scientists Unveil Detailed Cell Maps of the Human Brain and the Nonhuman Primate Brain

A group of international scientists have mapped the genetic, cellular, and structural makeup of the human brain and the nonhuman primate brain, allowing for a deeper knowledge of the cellular basis of brain function and dysfunction, helping pave the way for a new generation of precision therapeutics for people with mental disorders and other disorders of the brain.

Model showing glycine (teal) docking on the receptor GPR158. The dotted lines show contacts glycine molecule forms with GPR158. Courtesy of the Martemyanov lab, The Herbert Wertheim UF Scripps Institute for Biomedical Innovation & Technology.
Researchers Solve the Puzzle of a Brain Receptor’s Activation

Researchers in a NIMH-supported study identified a new receptor for glycine that helps enhance communication between nerve cells in the brain and offers a potential new target for treating mental disorders.

Multi-colored brain in space with a dotted background. Courtesy of the Gleeson Lab for Pediatric Brain Disease, University of California San Diego and Rady Children's Institute for Genomic Medicine.
Researchers Unlock Genetic Mutations Contributing to Disorders in the Brain

Researchers identified novel genes with mosaic mutations contributing to treatment-resistant pediatric epilepsy and pointing to specific disrupted pathways in cortical development.

Overhead shot of crowd watching a sports event.
New NIH Study Reveals Shared Genetic Markers Underlying Substance Use Disorders

Analyzing genomic data from more than 1 million people, researchers have identified genes that are commonly inherited across substance use disorders, regardless of the substance being used.

DNA strand beside a side profile of a head with the brain illuminated, on an abstract digital background
Researchers Map the Genetic Landscape of Schizophrenia in the Brain

In a comprehensive postmortem genetic analysis of the caudate nucleus in the brain, NIMH-supported researchers identified many genes associated with schizophrenia risk, including a gene that regulates the flow of the chemical messenger dopamine.

Illustration of neuronal connections.
NIH BRAIN Initiative Launches Projects to Develop Cell Atlases and Molecular Tools for Cell Access

The National Institutes of Health has launched two transformative projects supported by the Brain Research Through Advancing Innovative Neurotechnologies® (BRAIN) Initiative: The BRAIN Initiative® Cell Atlas Network and the Armamentarium for Precision Brain Cell Access.

3D rendering of a molecule
Autism and Congenital Heart Disease Share Underlying Molecular Network

A recent study of gene networks may hold some promising clues about shared mechanisms underlying autism spectrum disorder and congenital heart disease, two physiologically distinct disorders that often co-occur.

Word cloud with text arranged on background.
NIH, FDA and 15 Private Organizations Join Forces to Increase Effective Gene Therapies for Rare Diseases

The newly launched Bespoke Gene Therapy Consortium (BGTC), part of the NIH Accelerating Medicines Partnership (AMP) program, aims to optimize and streamline the gene therapy development process to help fill the unmet medical needs of people with rare diseases.

Illustration of neuronal connections.
NIH BRAIN Initiative Unveils Detailed Atlas of the Mammalian Primary Motor Cortex

The NIH Brain Research Through Advancing Innovative Neurotechnologies® (BRAIN) Initiative Cell Census Network (BICCN) has unveiled an atlas of cell types and an anatomical neuronal wiring diagram for the mammalian primary motor cortex, derived from detailed studies of mice, monkeys, and humans.

Image of brain and DNA strands
Genomic Data From More Than 41,000 People Shed New Light on Bipolar Disorder

In the largest genome-wide association study of bipolar disorder to date, researchers found about twice as many genetic locations associated with bipolar disorder as reported in previous studies. These and other findings help improve our understanding of the biological origins of bipolar disorder.

 A high-powered black and white microscope image showing exosomes, nanosized parts of cells. (Credit: Surya Shrivastava / City of Hope
Researchers Use Exosome-Based Strategy to Block HIV in Mice

In this NIMH-funded study, researchers used exosomes to deliver novel protein into the cells of mice infected with HIV. The protein attached to HIV’s genetic material and prevented it from replicating, resulting in reduced levels of HIV in the bone marrow, spleen, and brain.

Illustration of DNA double helix
Gene Readouts Contribute To Distinctness of Mental Disorders

A new study conducted by researchers at NIMH suggests that differences in the expression of gene transcripts – readouts copied from DNA that help maintain and build our cells – may hold the key to understanding how mental disorders with shared genetic risk factors result in different patterns of onset, symptoms, course of illness, and treatment responses.

Image of brain neurons
NIH-funded Study Sheds Light on Abnormal Neural Function in Rare Genetic Disorder

A genetic study has identified neuronal abnormalities in the electrical activity of cortical cells derived from people with a rare genetic disorder called 22q11.2 deletion syndrome.

artistic illustration of a molecular structure
Genetic Variations Highlight the Importance of Metabolic Processes in Anorexia

The need to identify effective targets for intervention in anorexia nervosa is pressing, as patient outcomes are often poor. An NIMH-funded genome-wide association study suggests that metabolic processes may play an important role in the disorder, offering a promising new avenue for investigation.

blueprint style line drawing of human brain
Study Shows Highly Reproducible Sex Differences in Aspects of Human Brain Anatomy

A scientific analysis of more than 2,000 brain scans found evidence for highly reproducible sex differences in the volume of certain regions in the human brain.

This image shows double-helix DNA strands.
Large-Scale Genetics Study Sheds Light on Developmental Origins of Autism

Researchers were able to identify different types of rare genetic variations associated with autism spectrum disorder by analyzing data shared via the NIMH-funded Autism Sequencing Consortium.

Neuronal spines
Schizophrenia Risk Gene Linked to Cognitive Deficits in Mice

Mice with an impaired version of one the few genes definitively linked to schizophrenia showed abnormalities in working memory, mimicking those commonly seen in schizophrenia patients.

microscopic image of an induced human neuron
Gene Regulators Work Together for Oversized Impact on Schizophrenia Risk

Gene expression regulators work together to raise an individual’s risk of developing schizophrenia. Schizophrenia-like gene expression changes modeled in human neurons matched changes found in patients’ brains.

brain scan showing molecular structure
2,000 Human Brains Yield Clues to How Genes Raise Risk for Mental Illnesses

PsychENCODE researchers are discovering the biological mechanisms by which mental illness risk genes work in the human brain.

Mouse preoptic region cell clusters
NIH BRAIN Initiative Debuts Cell Census of Mouse Motor Cortex – for Starters

NIH BRAIN Initiative Cell Census Network (BICCN) has debuted its first data release, which focuses on motor cortex. In a related development, researchers have discovered cellular secrets of key social behaviors – mating, parenting, and aggression – in mouse hypothalamus.

Illustration of a DNA double helix
Inherited Variations in Noncoding Sections of DNA Associated with Autism

A new study has identified an association between paternally-inherited rare structural variants in noncoding segments of genes and the development of autism spectrum disorder (ASD). The study adds to a growing body of research describing genetic contributors to ASD.

Chart shows correlations of gene expression between mental disorders.
Suspect Molecules Overlap in Autism, Schizophrenia, Bipolar Disorder

Depression, schizophrenia and autism spectrum disorder share some of the same patterns of suspect gene expression – molecular signatures.

gene illustration
NIH Completes Atlas of Human DNA Differences that Influence Gene Expression

NIH researchers have completed an atlas documenting how DNA influence human gene expression.

Epigenomic signatures of neuron subtypes
Breakthrough Method Yields Trove of Neuron Subtypes, Gene Regulators

Scientists have discovered a trove of neuronal subtypes by identifying their unique epigenomic signatures.

Neanderthal gene-influenced brain visual system areas
Our Brains Harbor “Residual Echo” of Neanderthal Genes

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.

3-D analysis of intact mouse hippocampus
NIMH Grantee Wins One of Science’s Most Coveted Prizes

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.

hippocampus PET scan
Estrogen Alters Memory Circuit Function in Women with Gene Variant

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.

Toddler walking - delayed
Delayed Walking May Signal Spontaneous Gene Anomalies in Autism

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.

ASD gene mutation
A Third of Suspect Mutations in ASD Just “Noise”

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

ESC/E(Z) gene complex
Sex Hormone–Sensitive Gene Complex Linked to Premenstrual Mood Disorder

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.

CANE visualized neurons
Molecular Tool Parses Social Fear Circuit Intertwined with Aggression Hub

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

medical background with magnifying glass examining brain
Worldwide Study Seeks to Unlock the Brain’s Genetic Code

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

BRAIN Initiative research
NIH Nearly Doubles Investment in BRAIN Initiative Research

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.

Cropped image of RNA molecule
Powered-Up Probe ID’s Schizophrenia Genes That Stunt Brain Development

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

Gene activation by cortex layer featured image
Schizophrenia, Autism Risk Gene Trajectories Point to Shared Causes

Schizophrenia, autism risk gene trajectories point to shared causes

chromosomes and double helix
Tapping Crowd-Sourced Data Unearths a Trove of Depression Genes

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.

High Chromosomes
Genome-Wide Study Yields Markers of Lithium Response

Genome-Wide Study Yields Markers of Lithium Response

C4 tower in genomic skyline featured
Schizophrenia’s Strongest Known Genetic Risk Deconstructed

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.

Side view of large model of human brain
NIH-supported NeuroBioBank Joins Autism BrainNet in Brain Donation Initiative

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.

Neurons and supporting cells in the spheroids form layers and organize themselves according to the architecture of the developing human brain and network with each other.  Source: Sergiu Pasca, M.D., Stanford University
A Patient’s Budding Cortex -- in a Dish?

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.

Genotype-Tissue Expression Project chart shows locations for liver, heart and brain tissue within the human body
GTEx Findings Reveal New Insights into how DNA Differences Influence Gene Activity, Disease Susceptibility

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

double helix
Disorders Share Risk Gene Pathways for Immune, Epigenetic Regulation

Risk genes for different mental disorders work through same pathways

Joseph Buxbaum, Ph.D.
Largest Autism Gene Dragnet Fingers 33 Prime Suspects

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

Schizophrenia genetics Manhattan plots, 2011, 2014
Schizophrenia’s Genetic “Skyline” Rising

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.

Buxbaum Autism Architecture Chart
Common Gene Variants Account for Most Genetic Risk for Autism

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.

Malinow Engineering Memory Rat
Shining a Light on Memory

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.

Cortex heritability and variability
Genes Impact Suspect Cortex Areas More as Youth Mature

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.