Genomics

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Genetic breakthrough in psychiatry using long-read genomic sequencing

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.

9 Apr 2025

New STITCHR tool offers a promising step forward for gene therapy

Investigators from Mass General Brigham and Beth Israel Deaconess Medical Center have developed STITCHR, a new gene editing tool that can insert therapeutic genes into specific locations without causing unwanted mutations.

9 Apr 2025

ETH Zurich researchers identify redundancies between the genes involved in DNA repair

Researchers aThe DNA of human cells consists of a sequence of about 3.1 billion building blocks. Cells go to great lengths to maintain the integrity of this vast store of information.t ETH Zurich have unraveled the complex network that cells use to repair their genetic material.

9 Apr 2025

Study uncovers conserved development and evolutionary innovations in the human hypothalamus

In a new study published in Developmental Cell on April 8, a research team led by Prof. WU Qingfeng at the Institute of Genetics and Developmental Biology of the Chinese Academy of Sciences has demonstrated the conserved cellular development and evolutionary innovations in the developing human hypothalamus.

9 Apr 2025

Unexpected function of gene network in gut microbes revealed

Could a gene regulatory network in gut microbes have evolved its elaborate and tightly regulated molecular machinery only to pump out antibiotics indiscriminately? Researchers from the Institute of Science and Technology Austria (ISTA) show this is an auxiliary function.

8 Apr 2025

Faulty gene linked to increased risk of punctured lung in thousands

As many as one in 3,000 people could be carrying a faulty gene that significantly increases their risk of a punctured lung, according to new estimates from Cambridge researchers. Previous estimates had put this risk closer to one in 200,000 people.

7 Apr 2025

Novel computational tool helps scientists detect hidden cell types behind disease

Cells throughout the body work together like singers in a choir to keep us healthy, as long as they work in perfect harmony.

7 Apr 2025

CRISPR tool unveils genetic drivers of blood cell maturation

Collaborative research led by investigators at Dana-Farber/Boston Children's Cancer and Blood Disorders Center defines a novel approach to understanding how certain proteins called transcription factors determine which genetic programs will drive cell growth and maturation.

4 Apr 2025

Study reveals the genetic arms race between X and Y sperm

In evolutionary terms, fitness is defined as an organism's ability to survive and reproduce its genes into the next generation.

4 Apr 2025

Pancreatic cells show epigenetic marks before cancerous transformation

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.

4 Apr 2025

Groundbreaking national initiative in Sweden aims to connect research with healthcare

A groundbreaking national initiative, Precision Omics Initiative Sweden (PROMISE), aims to connect research with healthcare and establish Sweden as a world leader in data-driven precision medicine.

4 Apr 2025

National Quantum Computing Centre launches Insights Paper exploring quantum computing's transformative potential in healthcare and pharmaceuticals

Today, the National Quantum Computing Centre (NQCC) launched its first Insights Paper, "The convergence of healthcare and pharmaceuticals with quantum computing: A new fronter in medicine", exploring how quantum computing could enable a step-change in medicine and healthcare delivery over the coming decades.

From NQCC 4 Apr 2025

New bacterial evolutionary map could lead to precision treatments for infections

The first-of-its-kind in-depth bacterial evolutionary map could pave the way for the development of precision treatments for certain antibiotic-resistant infections, such as urinary tract infections.

3 Apr 2025

Study sheds light on how major cancer gene influences the success of PARP inhibitors

A study led by scientists at NYU Langone Health sheds light on how the major cancer gene BRCA2 determines which cancer cells can be killed by a class of precision cancer drugs called PARP inhibitors.

3 Apr 2025

Rutgers geneticists uncover fresh insights into progression of polycystic kidney disease

For patients with polycystic kidney disease (PKD), a common genetic disorder that ravages the waste-removing organ with cysts, dialysis and transplantation are among the only treatments.

3 Apr 2025

Genetic research offers hope for children with rare intestinal disorders

Further genetic testing would show that Sophie has one of a group of rare conditions called CODE (congenital diarrhea and enteropathies) that disrupts the function of cells in the intestine, causing diarrhea and preventing infants from absorbing the nutrients they need to grow and thrive.

3 Apr 2025

Comprehensive AAV delivery map aids in advancing gene therapy

Gene therapy, a technique that is revolutionizing the treatment of multiple genetic conditions, including eye and muscle diseases and blood disorders, requires efficient and specific delivery of the genetic material to the tissue and cell type of interest.

1 Apr 2025

New genetic discovery sheds light on PHTS-related vascular malformations

During development, cells grow, expand, and migrate to generate tissues and organs in a highly controlled manner.

31 Mar 2025

Swedish researchers identify genetic variants linked to atherosclerosis

Swedish researchers have identified genetic variants that increase the risk of atherosclerosis. The aim is for these new findings to enable earlier detection of atherosclerosis and improved treatment of cardiovascular diseases such as heart attack and stroke.

31 Mar 2025

Research sheds light on the genetic basis of 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.

28 Mar 2025

Genomics

Genetic breakthrough in psychiatry using long-read genomic sequencing

New STITCHR tool offers a promising step forward for gene therapy

ETH Zurich researchers identify redundancies between the genes involved in DNA repair

Study uncovers conserved development and evolutionary innovations in the human hypothalamus

Unexpected function of gene network in gut microbes revealed

Faulty gene linked to increased risk of punctured lung in thousands

Novel computational tool helps scientists detect hidden cell types behind disease

CRISPR tool unveils genetic drivers of blood cell maturation

Study reveals the genetic arms race between X and Y sperm

Pancreatic cells show epigenetic marks before cancerous transformation

Groundbreaking national initiative in Sweden aims to connect research with healthcare

National Quantum Computing Centre launches Insights Paper exploring quantum computing's transformative potential in healthcare and pharmaceuticals

New bacterial evolutionary map could lead to precision treatments for infections

Study sheds light on how major cancer gene influences the success of PARP inhibitors

Rutgers geneticists uncover fresh insights into progression of polycystic kidney disease

Genetic research offers hope for children with rare intestinal disorders

Comprehensive AAV delivery map aids in advancing gene therapy

New genetic discovery sheds light on PHTS-related vascular malformations

Swedish researchers identify genetic variants linked to atherosclerosis

Research sheds light on the genetic basis of music enjoyment

Real-time Raman monitoring for pharmaceutical hot melt extrusion

Synthetic Psychedelics: A Growing Public Health Concern

How the Vutara VXL simplifies single-molecule imaging

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