Lifeboat Foundation

Summary: Administering a chemical compound called synthetic retinoids to the retina helped restore brain networks associated with vision and prompted the growth of two times more neurons, effectively restoring vision in adult mouse models of the genetic visual disorder LCA.

Source: UC Irvine.

A discovery about how some visually impaired adults could start to see offers a new vision of the brain’s possibilities.

Summary: Brain organoids are helping researchers map the molecular, genetic, and structural changes that occur during brain development.

Source: ETH Zurich.

The human brain is probably the most complex organ in the entire living world and has long been an object of fascination for researchers. However, studying the brain, and especially the genes and molecular switches that regulate and direct its development, is no easy task.

NIH researchers reveal new insights on how genetic architecture determines gene expression, tissue-specific function, and disease phenotype in blinding diseases.

National Eye Institute (NEI) scientists have mapped the organization of human retinal cell chromatin. These are the fibers that package 3 billion nucleotide-long DNA

Continue reading “New Insights Into Eye Diseases: 3D Map Reveals DNA Organization Within Human Retina Cells” »

Two groundbreaking studies recently published in the journals Nature and Genome Medicine found genetic signatures that explain ethnic disparities in the severity of prostate cancer, notably in Sub-Saharan Africa.

By genetically analyzing prostate cancer tumors from Australian, Brazilian, and South African donors, the team developed a new prostate cancer taxonomy (classification scheme) and cancer drivers that not only distinguish patients based on their genetic ancestry but also predict which cancers are likely to become life-threatening, a task that is currently difficult.

“Our understanding of prostate cancer has been severely limited by a research focus on Western populations,” said senior author Professor Vanessa Hayes, genomicist and Petre Chair of Prostate Cancer Research at the University of Sydney’s Charles Perkins Centre and Faculty of Medicine and Health in Australia. “Being of African descent, or from Africa, more than doubles a man’s risk for lethal prostate cancer. While genomics holds a critical key to unraveling contributing genetic and non-genetic factors, data for Africa has till now, been lacking.”

Thanks to new RNA vaccines, we humans have been able to protect ourselves incredibly quickly from new viruses like SARS-CoV-2, the virus that causes COVID-19. These vaccines insert a piece of ephemeral genetic material into the body’s cells, which then read its code and churn out a specific protein—in this case, telltale “spikes” that stud the outside of the coronavirus—priming the immune system to fight future invaders.

The technique is effective, and has promise for all sorts of therapies, says Eerik Kaseniit, Ph.D. student in bioengineering at Stanford. At the moment, though, these sorts of RNA therapies can’t focus on specific cells. Once injected into the body, they indiscriminately make the encoded protein in every cell they enter. If you want to use them to treat only one kind of cell—like those inside a cancerous tumor—you’ll need something more precise.

Kaseniit and his advisor, assistant professor of chemical engineering Xiaojing Gao, may have found a way to make this possible. They’ve created a new tool called an RNA “sensor”—a strand of lab-made RNA that reveals its contents only when it enters particular tissues within the body. The method is so exact that it can home in on both cell types and cell states, activating only when its target cell is creating a certain RNA, says Gao. The pair published their findings Oct. 5 in the journal Nature Biotechnology.

Changing the epigenetic marks on chromosomes results in altered gene expression in offspring and in grandoffspring, demonstrating ‘transgenerational epigenetic inheritance.’

Without changing the genetic code in the DNA

DNA, or deoxyribonucleic acid, is a molecule composed of two long strands of nucleotides that coil around each other to form a double helix. It is the hereditary material in humans and almost all other organisms that carries genetic instructions for development, functioning, growth, and reproduction. Nearly every cell in a person’s body has the same DNA. Most DNA is located in the cell nucleus (where it is called nuclear DNA), but a small amount of DNA can also be found in the mitochondria (where it is called mitochondrial DNA or mtDNA).

Understanding how metastasis works.

In the universal fight against cancer, metastasis is one of the most unpleasant factors that could make matters even worse; and there is still much to comprehend in the spread process. Cambridge scientists might have unveiled a breakthrough in understanding how metastasis works.

The research has been published in the journal Nature Genetics.

Continue reading “A breakthrough in metastasis could lead to better cancer treatments” »

A new study from the Garvan Institute of Medical Research shows how rises in core body temperature may trigger the inflammatory flares in people with a rare genetic autoinflammatory disease.

The recessive disorder, called mevalonate kinase deficiency (MKD), is caused by mutations in the gene for mevalonate kinase, an essential enzyme present in all cells in the body. Lack of this enzyme leads to a build-up of abnormal proteins, which causes cells of the immune system to malfunction and trigger inflammation.

Continue reading “Higher body temperature alters key protein in autoinflammatory disorder” »

Since the infancy of functional magnetic resonance imaging (fMRI) in 1990, people have been fascinated by the potential for brain scans to unlock the mysteries of the human mind, our behaviors and beliefs. Many breathtaking applications for brain scans have been devised, but hype often exceeds what empirical science can deliver. It’s time to ask: What’s the big picture of neuroscience and what are the limitations of brain scans?

The specific aims of any research endeavor depend on who you ask and what funding agency is involved, says Michael Spezio, associate professor of psychology, data science and neuroscience at Scripps College. Some people believe neuroscience has the potential to explain human cognition and behavior as a fully mechanistic process, ultimately debunking an “illusion of free will.” Not all neuroscientists agree that free will is a myth, but it’s a strong current these days. Neuroscience also has applications in finance, artificial intelligence, weapons research and national security.

For other researchers and funders, the specific aim of neuroscience involves focusing on medical imaging, genetics, the study of proteins (proteomics) and the study of neural connections (connectomics). As caring persons who are biological, neurological, physical, social and spiritual, we can use neuroscience to think carefully and understand our humanity and possible ways to escape some of the traps we’ve built for ourselves, says Spezio. Also, brain scans can enhance research into spirituality, mindfulness and theory of mind – the awareness of emotions, values, empathy, beliefs, intentions and mental states to explain or predict others’ behavior.