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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

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

New Cannabinoid Drug Brings Hope For Treating Chronic Pain Without Addiction

VIP36, a new CB1 agonist, targets a cryptic pocket to provide analgesia for chronic pain while minimizing side effects and avoiding opioid-related risks.

13 Mar 2025

Hospital Sink Drains: A Hidden Bacteria Hotspot Despite Cleaning

Researchers from Spain conducted a study on sink drains across various wards in a contemporary university hospital that follows advanced cleaning protocols.

17 Feb 2025

New Genetic Insights into Craniofacial Defects and Embryonic Development

An international team of researchers has identified a key genetic mechanism that regulates the formation and migration of cranial neural crest cells, which are essential for developing facial structures.

16 Dec 2024

The Critical Role of TRiC in Brain Development and Function

In 1992, Judith Frydman, PhD, discovered a molecular complex with an essential purpose in all of our cells: folding proteins correctly.

29 Nov 2024

New Insights into the Molecular Basis of Mitochondrial Diseases

A significant finding about the energy production process of human cells has been made by researchers at the Karolinska Institute's Department of Cell and Molecular Biology.

11 Nov 2024

Personalized Mini-Brains Provide Insight into Autism Spectrum Disorder

Using stem cells generated from patients with a rare and severe form of autism spectrum disorder and intellectual disability, Scripps Research scientists have grown personalized "mini-brains" (or organoids) to study the disorder in new detail.

24 Oct 2024

Mutant Neurons Show Accelerated Development in Mouse Brain

The mechanisms behind intellectual disabilities and autism remain largely unknown. However, researchers from the labs of Prof. Pierre Vanderhaeghen and Prof. Vincent Bonin at the VIB-KU Leuven Center for Brain & Disease Research and NERF have identified that mutations in the SYNGAP1 gene interfere with the extended development of human neurons, a process believed to be critical for normal cognitive function.

15 Oct 2024

Blood Vessel Cells Play a Crucial Role in Bone Development

Researchers have discovered a protein that inhibits the activity of bone-forming cells (osteoblasts) by preventing their maturation during the process of migrating to bone-formation sites.

14 Oct 2024

Motor And Extracellular Matrix Proteins Play A Critical Role In Cleft Palate Formation

The study reveals 44 differentially expressed proteins in cleft palate models, shedding light on molecular mechanisms and potential prenatal diagnostic markers.

30 Sep 2024

Study Confirms Comparable Efficacy of Lamotrigine and Mexiletine in Muscle Channelopathy

The study, published in Lancet Neurology, detailed the "head-to-head" trial implemented by the researchers to test two drugs, mexiletine and lamotrigine, on people with the condition.

30 Sep 2024

Study Reveals Immune Cells' Role in Lung Scarring After Viral Infections

Investigators involved in a multicenter study co-led by Cedars-Sinai discovered a pathway by which immune cells prevent the lungs' protective barrier from healing after viral infections like COVID-19.

5 Sep 2024

Single-Cell Sequencing Reveals Mechanism of Coronary Artery Formation

The process by which new arteries develop in the heart has been clarified by a group under the direction of Dr. Elena Cano at the Integrative Vascular Biology Lab of Professor Holger Gerhardt at the Max Delbrück Center in Berlin.

2 Sep 2024

Study Uncovers Biomarkers for Low Muscle Mass, Offering Insights for Personalized Prevention

Machine learning models to analyze computed tomography (CT) images of the chest and a proteomics approach to determine blood protein biomarkers.

15 Aug 2024

CRISPR-Cas: A Promising Tool For Combatting Antibiotic-Resistant Staphylococcus aureus

Using CRISPR-Cas systems in various studies to detect and treat Staphylococcus aureus.

12 Aug 2024

Injectable Therapy Using 'Dancing Molecules' Promises New Hope for Cartilage Repair

In November 2021, Northwestern University researchers introduced an injectable new therapy, which harnessed fast-moving "dancing molecules," to repair tissues and reverse paralysis after severe spinal cord injuries.

29 Jul 2024

Specific Genes May Determine Stroke Recovery Path

New research led by UCLA Health has found that specific genes may be related to the trajectory of recovery for stroke survivors, providing doctors insights useful for developing targeted therapies.