Science News About Genetics

A new study, funded in part by the National Institute of Mental Health, describes a promising new gene delivery vehicle that could advance treatment for brain disorders.

An NIMH-funded research consortium has produced the largest and most advanced multidimensional maps of gene regulation networks in the brains of people with and without mental disorders.

In a proof-of-concept study, researchers demonstrated the effectiveness of a potential new therapy for Timothy syndrome, an often life-threatening and rare genetic disorder that affects a wide range of bodily systems, leading to severe cardiac, neurological, and psychiatric symptoms as well as physical differences such as webbed fingers and toes.

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

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.

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

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.

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

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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

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.

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.

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

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

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

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.

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.

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.

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.

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

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.

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

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

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.

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

Schizophrenia, autism risk gene trajectories point to shared causes

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.

Genome-Wide Study Yields Markers of Lithium Response

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.

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.

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.

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

Risk genes for different mental disorders work through same pathways

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

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.

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.

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.

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.