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Next-Generation Sequencing Provides New Insights into Mutations of Mitochondrial DNA

A high-throughput single-cell single-mitochondrial genome sequencing technology known as iMiGseq has provided new insights into mutations of mitochondrial DNA (mtDNA) and offers a platform for assessing mtDNA editing strategies and genetic diagnosis of embryos prior to their implantation.

17 Apr 2023

Potential Therapy for Lethal Pediatric Brain Cancer Using ASO Technology

Diffuse intrinsic pontine glioma (DIPG) is a lethal pediatric brain cancer that often kills within a year of diagnosis. Surgery is almost impossible because of the tumors' location.

13 Apr 2023

New Technique Identifies a Gene that Drives Clonal Expansion of Abnormal Cells

An international coalition of biomedical researchers co-led by Alexander Bick, MD, PhD, at Vanderbilt University Medical Center has determined a new way to measure the growth rate of precancerous clones of blood stem cells that one day could help doctors lower their patients' risk of blood cancer.

12 Apr 2023

The Relation Between an Autism Gene and Infertility

The biological foundations of a reproductive disease caused by a DNA mutation have been discovered by a University of California, Riverside study. Fragile X Syndrome, a major genetic contributor to cerebral impairment and autism, is also caused by this gene mutation.

5 Apr 2023

Enhancing Cancer Modeling with New Genetic Analysis Tool

Healthy food and exercise habits can have a big impact on a person’s general health. However, an individual’s genetics largely determines their chance of developing cancer.

5 Apr 2023

Researchers Explain How a Single Mutation Causes Ataxia

Worldwide, only a handful of patients are known to suffer from episodic ataxia type 6, a neurological disease that causes transient loss of muscle control.

4 Apr 2023

Jumping Genes in Various Cancers may be Used to Direct Novel Immunotherapies to Tumors

New research from Washington University School of Medicine in St. Louis suggests that transposable elements in various cancers potentially may be used to harness novel immunotherapies against tumors that don't typically respond to immune-based treatments. Shown is a 3D rendering of cancer cells.

4 Apr 2023

"Visual Biochemistry" Approach to Understand How the BRCA2 Protein Binds and Interacts with DNA

Using a self-built inverted microscope complete with laser optical tweezers to capture DNA, Yale Cancer Center and University of California Davis researchers for the first time created a visualization of the full-length human BRCA2 protein at the single molecule level.

3 Apr 2023

Tighter Core of SARS-CoV-2 Spike Protein in New Variants Likely Improved the Virus's Ability to Infect Host Cells

Just as a tight core is a component of good physical fitness for humans, helping to stabilize our bodies, mutations that tightened the core of the SARS-CoV-2 spike protein in new variants may have increased the virus's fitness.

3 Apr 2023

Personal genome sequencing and personalized medicine

Genetic mutations have given life on Earth a stunning variety of various sizes, colors, and shapes. Some changes are beneficial, while others are dangerous or ineffective. There are about 4.5 million genetic variants per individual.

31 Mar 2023

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