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Category: genetics

Unlocking the mystery behind Barrett’s esophagus

A team led by researchers at Baylor College of Medicine and Washington University School of Medicine has shed light on the process that drives Barrett’s esophagus formation. This condition affects the lining of the esophagus—the tube that carries food from the mouth to the stomach—and increases the risk of developing esophageal adenocarcinoma, a serious and often deadly cancer.

The study, published in the Journal of Clinical Investigation, reveals that two important genes involved in guiding and maintaining the identity of the esophagus and intestine, SOX2 and CDX2, are altered in Barrett’s esophagus. The findings not only deepen our understanding of how the disease develops but also open the door to new ways of identifying people at risk and potentially preventing the condition from progressing to cancer.

“Esophageal adenocarcinoma is one of the fastest growing solid cancers. It is difficult to treat, and there are no effective screening techniques available,” said first and co-corresponding author Dr. Ramon Jin, assistant professor in the John T. Milliken Department of Medicine at Washington University.

First Step Towards an Artificial Human Genome Now Underway

As if sequencing a full human genome wasn’t tricky enough, scientists are now attempting to reconstruct our species’ genetic material from the ground up.

It’s an ambitious and controversial project called the Synthetic Human Genome (SynHG) project, and work has already begun on a proof-of-concept.

The goal of this crucial first step is to use the human genome blueprint to write the genetic code for a single, enormously long strand of DNA in just one of our chromosomes – making up approximately 2 percent of our total genome.

Research teases apart competing transcription organization models

Scientists at St. Jude Children’s Research Hospital have reconciled two closely related but contentious mechanisms underlying transcription, the process of converting genetic information in DNA into messenger RNA. Phase separation has been proposed as a driving force in transcription due to its ability to selectively concentrate proteins and DNA in discrete droplets.

DNA as a perfect quantum computer based on the quantum physics principles

I believe that dna will be able to answer just about all our genetic coding questions so much that it will lead to even better breakthroughs in the future and use hardly any energy. I believe also that the master algorithm can eventually be derived from DNA as dna seems already a perfect master algorithm for human beings where human beings are the key to all future progress. I say this as quantum computing is still not stable but we already know that dna computers seem already a masterpiece already especially even organoids of the human brain. Really it becomes really quite simple as even the quantum realm is unstable but dna computers that are quantum would stabilize this currently unstable realm.

Riera Aroche, R., Ortiz García, Y.M., Martínez Arellano, M.A. et al. DNA as a perfect quantum computer based on the quantum physics principles. Sci Rep 14, 11,636 (2024). https://doi.org/10.1038/s41598-024-62539-5

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Researchers discover link between key protein and brain synapse development

Scientists have uncovered how a protein helps build and maintain vital brain connections, providing insights into the neurological problems experienced by people with a rare form of muscular dystrophy known as dystroglycanopathy.

The research conducted at Oregon Health & Science University and published in Communications Biology reveals that the protein Dystroglycan plays a critical role in forming and maintaining connections between nerve cells in the cerebellum—the part of the brain responsible for movement coordination and motor learning.

In people with dystroglycanopathy, in the protein affect not only muscles but also the brain. The condition is a type of congenital muscular dystrophy, a group of inherited disorders that appear at birth or in early infancy.

Blood stem cell mutations linked to lower risk of late-onset Alzheimer’s disease

A study published in Cell Stem Cell reveals that some mutations in blood stem cells might help protect against late-onset Alzheimer’s disease.

A team led by researchers at Baylor College of Medicine discovered that both a mouse model and people carrying blood stem cells with mutations in the gene TET2, but not in the gene DNMT3A, had a lower risk of developing Alzheimer’s disease. Their study proposes a mechanism that can protect against the disease and opens new avenues for potential strategies to control the emergence and progression of this devastating condition.

“Our lab has long been studying blood stem cells, also called ,” said lead author Dr. Katherine King, professor of pediatrics— and a member of the Center for Cell and Gene Therapy and the Dan L Duncan Comprehensive Cancer Center at Baylor. She is also part of Texas Children’s Hospital.

Lab-grown ‘tiny hearts’ bring hope for children and adults with genetic heart disease

Scientists from QIMR Berghofer’s Cardiac Bioengineering Lab have developed lab-grown, three-dimensional heart tissues known as cardiac organoids that mimic the structure and function of real adult human heart muscle.

To create these tissues, the researchers use special cells called (which can turn into any cell in the body). However, when these stem cells become , they usually stay immature and more like the heart tissue found in a developing baby. This immaturity can limit their usefulness to model diseases that present in childhood or as an adult.

In the study, researchers activated two key biological pathways to mimic the effects of exercise in order to mature these cells, making them behave more like genuine adult heart tissue. This breakthrough means scientists can now use these lab-grown heart tissues to test that could help people with heart conditions. The findings have been published in Nature Cardiovascular Research.

Virtual reality software uncovers new details in pediatric heart tumors

New cutting-edge software developed in Melbourne can help uncover how the most common heart tumor in children forms and changes. And the technology has the potential to further our understanding of other childhood diseases, according to a new study.

The research, led by Murdoch Children’s Research Institute (MCRI) and published in Genome Biology, found the software, VR-Omics, can identify previously undetected cell activities of cardiac rhabdomyoma, a type of benign heart tumor.

Developed by MCRI’s Professor Mirana Ramialison, VR-Omics is the first tool capable of analyzing and visualizing data in both 2D and 3D virtual reality environments. The innovative technology aims to analyze the spatial genetic makeup of to better understand a specific disease.

Proteins important in brain communication have different roles than previously thought

Cellular communication between neurons within our brain is complex and busy, much like a USPS mailroom.

To keep things running smoothly, the brain uses specialized molecules, termed alpha-2-delta (α2δ) proteins, to coordinate the sending and receival of signals between nerve cells in the brain.

Genetic variations in these types of proteins can impact important brain messaging and function, resulting in chronic pain, , epilepsy, migraines, and other conditions.