Science News About Genetics

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.