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New Blood Test Could Revolutionize Alzheimer’s Diagnosis

Research confirms the Lumipulse serum p-tau217 assay's effectiveness in diagnosing Alzheimer's, paving the way for accessible blood-based testing in healthcare.

18 Apr 2025

Inherited Genes Play Key Role in Cancer Development

A groundbreaking study has revealed how inherited genetic abnormalities, known as germline variants, play a vital role in the progression of cancer.

16 Apr 2025

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

New Protein Identified as Regulator of Mitochondrial Calcium Transport

Calcium transport into and out of mitochondria – the powerhouses of cells – is central to cellular energy production and cell death.

9 Apr 2025

QRICH1 Protein Found to Control T Cell Activation in Cancer and Autoimmune Diseases

In a study of the immune systems of mice, scientists at Johns Hopkins Medicine say they have found a new role for a protein, QRICH1, which could become a target for drugs to dial up or down the activation of T cells to fight cancers and autoimmune diseases.

9 Apr 2025

Researchers Develop Cellulose-Based 3D Scaffolds That Mimic Natural Tissue Architecture

This research outlines a protocol for nano-fibrillated cellulose scaffolds, crucial for tissue engineering, emphasizing mechanical stability and cell viability.

9 Apr 2025

New Research Reveals Mitochondrial Guardians Linked to Parkinson’s and ALS

Scientists at Johns Hopkins Medicine say they have discovered how a group of proteins linked to Parkinson's disease and amyotrophic lateral sclerosis act as "guardians" of mitochondria, small organelles, or subunits, within a cell that make and store energy and are found in almost all plants and animals.

8 Apr 2025

Scientists Unveil Dynamic Structure of Vision-Linked Protein RBP3

Scientists have for the first time looked deep into the protein structure that may determine our vision - and discovered that it is much more dynamic than previously thought.

8 Apr 2025

Study Reveals How Stiffened Osteocytes Contribute to Bone Loss in Aging

It's no coincidence that our bodies feel a little creakier as we age. The trillions of cells that make up our skeleton age too, and some change in ways that weaken the very structure of our bones.

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