Lifeboat Foundation: Safeguarding Humanity
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Category: genetics

First large-scale stem cell bank enables worldwide studies on genetic risk for Alzheimer’s disease

Alzheimer’s disease (AD) is a common, debilitating neurodegenerative disease affecting about 10% of people over the age of 65 and one third of people aged 85 and above. Besides environmental factors, the genes have a strong influence on whether or not a person develops AD during their lifetime.

Through genome sequencing of DNA from large groups of healthy people and people with AD, some naturally occurring small changes in the DNA, known as genetic variants, were found to be more frequent in AD patients than in healthy people.

As more and more of these AD-associated genetic “risk” variants are discovered, it is now possible to calculate a person’s individual polygenic risk score (PRS), meaning the likelihood of the person developing AD, with high accuracy.

New IQ research shows why smarter people make better decisions

Smarter people don’t just crunch numbers better—they actually see the future more clearly. Examining thousands of over-50s, Bath researchers found the brightest minds made life-expectancy forecasts more than twice as accurate as those with the lowest IQs. By tying cognitive tests and genetic markers to real-world predictions, the study shows how sharp probability skills translate into wiser decisions about everything from crossing the road to planning retirement—and hints that clearer risk information could help everyone close the gap.

Clinical test predicts best rheumatoid arthritis treatment on first try

1 in 100 people in Britain today live with rheumatoid arthritis (RA). Unlike osteoarthritis (OA), RA is caused not by wear and tear but by the body’s immune system attacking its own joints. RA can strike quickly at any age—but is most common for people aged 40–60.

Biological therapies are the leading treatment. Clinicians use engineered proteins made from living cells to slow the disease by targeting the specific parts of the immune system that are going rogue. Over the past 20 years they have led to major improvements in helping patients to live with RA.

However, different patients will react differently to different biological therapies depending upon their genetics. This means individual therapies have a failure rate of approximately 40%.

Natural compounds and strategies for fighting against drug resistance in cancer: a special focus on phenolic compounds and microRNAs

Bioactive phytochemicals, phenolic compounds, terpenoids, and alkaloids, exert antioxidative, anti-inflammatory, antigenotoxic, and anticancer effects, simultaneously showing minimal or no toxicity on normal, healthy cells. Phytochemicals targeting various signaling pathways and multiple mechanisms underlying intrinsic and acquired multidrug resistance (MDR) in cancer cells make them invaluable tools for the development of novel strategies for fighting against anticancer drug resistance in different types of cancer, which is one of the ultimate goals of modern oncology research. As MDR is described to be a simultaneous development of resistance to multiple drugs with different chemical structures, mechanisms of action, and targets it is not surprising that multiple factors, such as genetic and epigenetic changes, as well as noncoding RNAs, including microRNAs may significantly contribute to the development MDR in cancer cells, and its targeting and modulation of their expression to sensitize cells to treatment. This review implies that some natural compounds, such as curcumin, resveratrol, kaempferol, allicin, and quercetin, have the potential to interact with highly oncogenic and/or proinflammatory miRNAs, such as miR-21/155/663/146a, significantly influencing the response to cancer therapy. This article aims to point out how natural compounds may be used, accompanied by miRNAs mimics or miRNA inhibitors to treat specific types of cancer and its subtypes to overcome multidrug resistance. The main challenge is to determine the proper doses and concentrations of both miRNAs and compounds.

Gene Therapy Can Restore Hearing in Adults, First-of-Its-Kind Trial Shows

Up to three in every 1,000 newborns has hearing loss in one or both ears. While cochlear implants offer remarkable hope for these children, it requires invasive surgery. These implants also cannot fully replicate the nuance of natural hearing.

But recent research my colleagues and I conducted has shown that a form of gene therapy can successfully restore hearing in toddlers and young adults born with congenital deafness.

Our research focused specifically on toddlers and young adults born with OTOF-related deafness. This condition is caused by mutations in the OTOF gene that produces the otoferlin protein –a protein critical for hearing.

Incurable blood cancer tied to gene mutation in new lab model

Researchers working on an incurable blood cancer can now use a new lab model that could make testing potential new treatments and diagnostics easier and quicker, new research has found.

In a paper published in Nature Communications, a team of researchers led by the University of Birmingham has studied from patients with a blood cancer called myelodysplastic syndrome disease (MDS). This disease often develops into a highly aggressive form of acute myeloid leukemia (AML).

Working with this new model has led to confirmation that a mutation in the gene CEBPA causes progression from MDS to AML.

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.