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New Genetic Insights From Long Read Sequencing in a Teen With Complex Psychiatric Conditions

In a manuscript published today in the American Journal of Psychiatry titled Long-Read Genome Sequencing in Clinical Psychiatry: RFX3 Haploinsufficiency in a Hospitalized Adolescent With Autism, Intellectual Disability, and Behavioral Decompensation, authors describe how they leveraged long-read genomic sequencing (LRS) to make a genetic diagnosis in a17-year-old male with autism spectrum disorder, intellectual disability, and acute behavioral decompensation that would not have been possible by standard methods.

12 Apr 2025

Genetic Sequencing Leads to Major Discovery in Neurodevelopmental Disorders

A seminal study from researchers at the Icahn School of Medicine at Mount Sinai and their collaborators in the United Kingdom, Belgium, Spain, the Netherlands, and Iceland has uncovered a new genetic cause of neurodevelopmental disorders (NDDs).

11 Apr 2025

Genetic Variants Offer Clues to Targeted Asthma Treatments

Genome wide association studies (GWAS) have identified hundreds of genome regions containing thousands of genetic variants associated with asthma, but it's still not clear which variants have an actual causal link to the disease.

11 Apr 2025

Japanese Researchers Develop New Assay to Detect Epigenetic Toxicity

Chemicals used as food preservatives, flavoring agents, dyes, pesticides, cosmetics, cleaners, and other industrial materials are being increasingly recognized as a health hazard.

11 Apr 2025

Breakthrough Delivery System Advances CRISPR-Based Treatments

A research team from Helmholtz Munich and the Technical University of Munich has developed an advanced delivery system that transports gene-editing tools based on the CRISPR/Cas9 gene-editing system into living cells with significantly greater efficiency than before.

10 Apr 2025

Rapid Growth of Blood Cancer Driven by a Single Genetic ‘HIT’

A new study has unveiled when chronic myeloid leukaemia, a type of cancer that affects the blood and bone marrow, arises in life and how fast it grows.

10 Apr 2025

New Research Further Translates the Language of the Genome

New research has uncovered more about the complexity of human gene regulation by identifying certain sequences of proteins called transcription factors that bind to DNA and regulate the expression of human genes.

9 Apr 2025

Scientists Capture Dynamic Process of Chromatin Remodeling in Action

Chromatin remodeling plays a vital role in gene regulation, affecting how DNA is accessed. Disruptions in this process can also lead to cancer and other diseases.

7 Apr 2025

Scientists Discover Epigenetic Marks in Pancreatic Cancer Transition

Johns Hopkins Medicine scientists say they have found a pattern of so-called epigenetic "marks" in a transition state between normal and pancreatic cancer cells in mice, and that the normal cells may keep at least a temporary "memory" of those cancer-linked marks.

7 Apr 2025

Carbon Dot-Based Fluorosensor Shows Superior Performance in Enterovirus RNA Detection

Scientists from the University of Jyväskylä's Nanoscience Center in Finland have introduced a novel, label-free ratiometric fluorosensor intended for the sensitive and specific detection of enteroviral RNA.

7 Apr 2025

Antibiotic Resistance Through Bacterial Genes Inhibiting Viral Reproduction

Antibiotic resistance is a global health threat that could supplant cancer mortality within a few decades. Researchers at Umeå University, Sweden, found that the emergence of resistance can be explained by how bacteria develop defenses against virus infection.

7 Apr 2025

Unraveling the Flowerpot Snake's Unique Genome

The flowerpot snake, recognized as one of the smallest snakes globally, possesses some remarkable characteristics.

3 Apr 2025

Wheat's Pathogen Defense Strengthened by Tandem Kinase Proteins

Wheat is grown over more land area than any other food crop. Among pathogen-driven threats to wheat, fungi top the list, causing billions of dollars of losses each year and posing a serious challenge to food security worldwide.

3 Apr 2025

Scientists Build Live African Swine Fever Virus From Synthetic DNA Using CRISPR

Utilizing CRISPR-Cas9, scientists reconstitute live African swine fever virus from synthetic genomes, accelerating vaccine development for this deadly virus.

2 Apr 2025

New Genetic Targets for Atherosclerosis Prevention

Genetic variations that raise the risk of atherosclerosis have been found by Swedish researchers.

1 Apr 2025

Study Identifies Mechanisms Regulating Nuclear Pore Complexes in Cells

The nuclei in our cells are miniature warehouses safeguarding the genetic blueprint for the body's biologic machinery.

1 Apr 2025

Genetic Study Reveals Heritable Basis for Music Enjoyment

Music is central to human emotion and culture. Does our ability to enjoy music have a biological basis? A genetic twin study, published in Nature Communications, shows that music enjoyment is partly heritable.

30 Mar 2025

Plants Repurpose Gas Exchange Genes for Improved Defense Against Herbivores

Throughout evolution, plants have continuously adapted to survive in changing environments. Apart from complex structural changes, plants have also developed various defense strategies against herbivores, including tougher protective layers, thorns, and chemical deterrents.

29 Mar 2025

Breakthrough Gene Therapy Shows Promise for Treating Hereditary Hearing Loss

Congenital hearing loss refers to impaired auditory function that occurs due to genetic causes. GJB2 is the gene responsible for approximately half of all cases of hereditary hearing loss.

28 Mar 2025

Statistical Method Traces the Dynamic History of Genetic Movement

University of Michigan researchers have developed a statistical method that can be used for such wide-ranging applications as tracing your ancestry, modeling disease spread and studying how animals spread through geographic regions.

28 Mar 2025