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New nanoparticles can deliver mRNA encoding CRISPR/Cas9 components to the lungs

Engineers at MIT and the University of Massachusetts Medical School have designed a new type of nanoparticle that can be administered to the lungs, where it can deliver messenger RNA encoding useful proteins.

31 Mar 2023

FDA-approved compound promotes photoreceptor survival in lab models of inherited retinal ciliopathy

A National Eye Institute-led team has identified a compound already approved by the U.S. Food and Drug Administration that keeps light-sensitive photoreceptors alive in three models of Leber congenital amaurosis type 10 (LCA 10), an inherited retinal ciliopathy disease that often results in severe visual impairment or blindness in early childhood.

30 Mar 2023

Study expands understanding of PAK1-related IDDMSSD

A recent study from Texas Children's Hospital and Baylor College of Medicine has expanded the clinical spectrum of a new epileptic disorder called Intellectual Developmental Disorder with Macrocephaly, Seizures, and Speech Delay (IDDMSSD) with the identification of the first recurrently affected residue identified in the protein kinase domain of PAK1 protein.

30 Mar 2023

The proper implementation of stem cell-based disease models

Scientists have learned how to manufacture induced pluripotent stem cells (iPSC) from regular cells through genetic reprogramming during the last ten years.

29 Mar 2023

Determining the structure of protein pumps using cryo-EM

A rare, genetic disorder known as Hailey-Hailey disease causes patches of blisters to develop mainly in the folds of skin under the breasts, in the groin, and the armpits.

29 Mar 2023

Innovative new approach to constructing a nose in young patients with arhinia

Congenital arhinia (meaning patients born without a nose) is a rare condition associated with high mortality if not identified.

24 Mar 2023

Researchers discover a new intracellular "smoke detector"

Researchers at the Universities of Bonn and Singapore have discovered a new intracellular "smoke detector." The sensor warns of damage to the mitochondria - the microscopic power plants that supply the cell with energy.

22 Mar 2023

Genome editing proven effective to restore the vision of mice with genetic diseases

Chinese researchers have turned out to be successful in restoring the vision of mice with retinitis pigmentosa, which is considered to be one of the significant causes of blindness in humans.

20 Mar 2023

Using a programmable control switch to deliver therapeutic RNA molecules to target cells

Using an RNA sensor, MIT engineers have designed a new way to trigger cells to turn on a synthetic gene.

17 Mar 2023

Effective backup mechanism ensures efficient antimicrobial responses in humans

In the human body, virus particles are identified by pattern recognition receptors (PRRs) either within or on the cell surface. When a receptor is activated, a signaling cascade is initiated, which results in the production and release of signaling molecules like interferons and cytokines.

14 Mar 2023

Study identifies a novel rare mutation in gene linked to Harlequin Ichthyosis

Harlequin ichthyosis (HI) is a severe genetic skin disorder characterized by thick white, brown, or dark brown patches on the skin covering a newborn's entire body. HI has a low incidence of 1 per 300,000 live births but comes with the highest mortality rate among skin conditions. It is caused by a mutation in the ABCA12 gene, which codes for a protein involved in transporting lipids necessary for the formation of the skin barrier. Such protein shortage leads to a weaker epidermal barrier.

9 Mar 2023

Potential therapeutic can synergize with existing drugs to effectively destroy leukemia cells

A team of researchers has discovered a potential therapeutic that can synergize with existing drugs to more effectively kill certain leukemia cells.

9 Mar 2023

Pathogenic fungus binds to a human protein to escape elimination from lung cells

The pathogenic fungus Aspergillus fumigatus escapes elimination from surface cells of the human lung by binding to a human protein.

9 Mar 2023

Deeper understanding of T-cell responses may lead to better, more personalized immunotherapies

For the first time, a research team has identified and analyzed the steps by which immune cells "see" and respond to cancer cells, providing insights into reasons some treatments may be effective for certain patients but not others.

9 Mar 2023

Study pinpoints a splicing deregulation that causes therapeutic vulnerability in pediatric AML

Pediatric acute myeloid leukemia or pAML is a childhood blood cancer, one that has proved confounding to clinicians and researchers, with a high relapse rate and relatively few identified genetic mutations (compared to the adult version) that might explain its cause.

8 Mar 2023

Researchers discover how specific mutation in a bacterium results in phage resistance

As antibacterial resistance continues to render obsolete the use of some antibiotics, some have turned to bacteria-killing viruses to treat acute infections as well as some chronic illnesses.

7 Mar 2023

New insights into the underlying mechanism that causes arrhythmogenic cardiomyopathy

Researchers from the group of Eva van Rooij in collaboration with the UMC Utrecht identified a new mutation that leads to the cardiac disease arrhythmogenic cardiomyopathy (ACM).

3 Mar 2023

Uncovering the complete 3D structure of p53 protein

By inducing cell repair or self-destruction, the tumor suppressor protein p53, often known as “the guardian of the genome,” shields the body’s DNA from daily stress or long-term damage.

2 Mar 2023

Women over 50 with genetic BRCA1 or BRCA2 mutation face a high risk of cancer

Although genetic mutations in BRCA1 or BRCA2 are associated with a younger onset of breast and ovarian cancer, women with these genetic mutations continue to face a high risk of cancer incidence after age 50, even if they have not been previously diagnosed with cancer.

27 Feb 2023

New molecular understanding of how head injury may contribute to glioma risk

Researchers from the UCL Cancer Institute have provided important molecular understanding of how injury may contribute to the development of a relatively rare but often aggressive form of brain tumor called a glioma.

27 Feb 2023

Mutation News and Research

New nanoparticles can deliver mRNA encoding CRISPR/Cas9 components to the lungs

FDA-approved compound promotes photoreceptor survival in lab models of inherited retinal ciliopathy

Study expands understanding of PAK1-related IDDMSSD

The proper implementation of stem cell-based disease models

Determining the structure of protein pumps using cryo-EM

Innovative new approach to constructing a nose in young patients with arhinia

Researchers discover a new intracellular "smoke detector"

Genome editing proven effective to restore the vision of mice with genetic diseases

Using a programmable control switch to deliver therapeutic RNA molecules to target cells

Effective backup mechanism ensures efficient antimicrobial responses in humans

Study identifies a novel rare mutation in gene linked to Harlequin Ichthyosis

Potential therapeutic can synergize with existing drugs to effectively destroy leukemia cells

Pathogenic fungus binds to a human protein to escape elimination from lung cells

Deeper understanding of T-cell responses may lead to better, more personalized immunotherapies

Study pinpoints a splicing deregulation that causes therapeutic vulnerability in pediatric AML

Researchers discover how specific mutation in a bacterium results in phage resistance

New insights into the underlying mechanism that causes arrhythmogenic cardiomyopathy

Uncovering the complete 3D structure of p53 protein

Women over 50 with genetic BRCA1 or BRCA2 mutation face a high risk of cancer

New molecular understanding of how head injury may contribute to glioma risk

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