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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

Small Hatching Embryo may Improve the Chances of IVF Success

A new research paper was published in Aging (Aging-US) Volume 17, Issue 3, on March 5, 2025, titled "Reproductive aging, preimplantation genetic testing for aneuploidy, and the diameter of blastocysts: does size matter?"

10 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

New Brain Organoid Model Reveals How Microglia Respond to Viral Infections

Organoids have revolutionized science and medicine, providing platforms for disease modeling, drug testing, and understanding developmental processes.

4 Apr 2025

CD11c Microglia Play Key Role in Neurodevelopmental Delays from Maternal Inflammation

A research group led by Nagoya University Graduate School of Medicine in Japan has uncovered a potential mechanism linking maternal inflammation to delayed neurodevelopment in infants.

2 Apr 2025

Study Sheds Light on Cell’s Adaptive Response to Stress

The body's cells respond to stress-toxins, mutations, starvation or other assaults-by pausing normal functions to focus on conserving energy, repairing damaged components and boosting defenses.

27 Mar 2025

How Drug-Resistant Bacteria Use Antimicrobial Tools to Outcompete Others

A drug-resistant type of bacteria that has adapted to health care settings evolved in the past several years to weaponize an antimicrobial genetic tool, eliminating its cousins and replacing them as the dominate strain.

24 Mar 2025

Pregnancy Triggers Small Intestine Growth in Mice

Researchers at the Francis Crick Institute have found that the small intestine grows in response to pregnancy in mice. This partially irreversible change may help mice support a pregnancy and prepare for a second.

20 Mar 2025

Early Embryo Development May Be the Foundation for Lifelong Health

Researchers at the University of Adelaide have found that the initial stages of embryo development significantly influence an individual's future health and aging.

19 Mar 2025

Spotiphy Revolutionizes Spatial Transcriptomics with AI for Single-Cell Resolution

Spatial transcriptomics is a cutting-edge technique that characterizes gene expression within sections of tissue, such as heart, skin or liver tissue.

14 Mar 2025

Study Reveals How Syngap1 Gene Affects Touch-Based Perception in Mice

You may scarcely notice it, but much of what you do every day requires your brain to engage in perceptual learning.

14 Mar 2025

Generative AI Enhances Spatial Gene Expression Analysis in Tissue Samples

Spatial transcriptomics is an advanced technique that analyzes gene expression within tissue sections, such as those from the heart, skin, or liver. These analyses offer valuable insights into how spatial organization influences cellular functions across various biological contexts and diseases.

13 Mar 2025

Combination of Viral Antibodies and Genetic Risk Factors Linked to Increased MS Risk

In multiple sclerosis (MS), antibodies to the common Epstein-Barr virus can accidentally attack a protein in the brain and spinal cord. New research shows that the combination of certain viral antibodies and genetic risk factors can be linked to a greatly increased risk of MS.

12 Mar 2025

Rare ITSN1 Gene Variants Found to Significantly Elevate Parkinson's Risk

A new study published in Cell Reports reveals a breakthrough discovery linking genetic variants in the gene ITSN1 to a significantly elevated risk of Parkinson's disease, a neurodegenerative condition that affects nearly 2% of adults older than 65 years.

10 Mar 2025

Lack of Genetic Diversity in Reference Groups Leads to Misdiagnoses

A new study has uncovered that a gene variant common in Oceanian communities was misclassified as a potential cause of heart disease, highlighting the risk of the current diversity gap in genomics research which can pose a greater risk for misdiagnosis of people from non-European ancestries.

8 Mar 2025

Genomics can Transform Care for Children with Rare Diseases

A simple genomics blood test could improve treatment and care for childhood epilepsy, but more investment is needed to make access fair and securely join up the data, finds a new study involving researchers at University College London (UCL) and Great Ormond Street Hospital for Children (GOSH).

8 Mar 2025

New Approach Could Protect Insulin-Producing Beta Cells from Damage Related to Diabetes

Researchers from the Icahn School of Medicine at Mount Sinai in New York have discovered a novel approach to protecting insulin-producing beta cells from the damaging effects of glucolipotoxicity-a harmful condition linked to the progression of type 2 diabetes (T2D).

5 Mar 2025