Genetics: In-Depth Description

Image Credit: Scientific Frontline / stock image

Genetics is the branch of biology concerned with the study of genes, genetic variation, and heredity in organisms. It seeks to understand the molecular mechanisms by which traits are passed from parents to offspring, how the genetic code directs biological functions, and how variations in this code drive evolution and disease. At its core, genetics is the study of biological information: how it is stored, copied, translated, and mutated.

Consciousness as the foundation – new theory of the nature of reality

Maria Strømme, Professor of Materials Science.
Inset Photo Credit: Courtesy of Uppsala University

Consciousness is fundamental; only thereafter do time, space and matter arise. This is the starting point for a new theoretical model of the nature of reality, presented by Maria Strømme, Professor of Materials Science at Uppsala University, in the scientific journal AIP Advances. The article has been selected as the best paper of the issue and featured on the cover. 

Strømme, who normally conducts research in nanotechnology, here takes a major leap from the smallest scales to the very largest – and proposes an entirely new theory of the origin of the universe. The article presents a framework in which consciousness is not viewed as a byproduct of brain activity, but as a fundamental field underlying everything we experience – matter, space, time, and life itself. 

Untreated sleep apnea raises risk of Parkinson’s

 A new study involving millions of electronic health records reveals that untreated obstructive sleep apnea raises the risk of Parkinson’s disease.
Image Credit: Scientific Frontline / AI generated

New research reveals that people with untreated obstructive sleep apnea have a higher risk of developing Parkinson’s disease. However, they can significantly reduce the risk by improving the quality of their sleep by using continuous positive airway pressure, or CPAP.

The study, which published today in the journal JAMA Neurology, examined electronic health records covering more than 11 million U.S. military veterans who received care through the Department of Veterans Affairs between 1999 and 2022.

The research was led by Oregon Health & Science University and the Portland VA Health Care System.

Parkinson’s is a neurodegenerative condition that affects an estimated 1 million people nationwide, with the risk rising incrementally year by year for people over age 60.

Humpback Whales Are Making a Comeback – Here’s One Reason Why

Photo Credit: © Olga Filatova/SDU

When SDU whale researcher Olga Filatova set off on her first field trip in 2000, she spent five years looking for whales before she saw a humpback. 

“It was incredibly rare to spot one back then. Today, we see them almost every day when we’re in the field,” she says. “We don’t know exactly how many humpbacks there are now, but definitely many more than when I started.” 

A cautious estimate from the Endangered Species Coalition puts today’s population at around 80,000—up from just 10,000 at their lowest point. That makes humpbacks one of the great success stories of conservation. 

New clues to why some animals live longer

Sika Zheng
Photo Credit: Courtesy of University of California, Riverside

A collaborative study by scientists at the University of California, Riverside, and University of Southern California reports on how a process known as alternative splicing, often described as “editing” the genetic recipe, may help explain why some mammals live far longer than others.

Published in Nature Communications, the study, which compared alternative RNA processing in 26 mammal species with maximum lifespans ranging from 2.2 to 37 years (>16-fold differences), found that changes in how genes are spliced, more than just how active they are, play a key role in determining maximum lifespan.

Particle accelerator waste could help produce cancer-fighting materials

Photo Credit: Courtesy of University of York

Energy that would normally go to waste inside powerful particle accelerators could be used to create valuable medical isotopes, scientists have found. 

The next step is to explore how the method could be scaled up to deliver clinically use 

Researchers at the University of York have shown that intense radiation captured in particle accelerator “beam dumps” could be repurposed to produce materials used in cancer therapy.  

Scientists have now found a way to make those leftover photons do a second job, without affecting the main physics experiments. 

A beam of photons designed to investigate things like the matter that makes up our universe, could at the same time, be used to create useful medical isotopes in the diagnosis and treatment of cancer. 

Blood protein profiles can predict mortality

Photo Credit: Akram Huseyn

Elevated levels of five proteins in our blood can help predict risk of mortality, a new study from the University of Surrey finds. Scientists believe the proteins (PLAUR, SERPINA3, CRIM1, DDR1 and LTBP2), that play key roles in the development of diseases such as cancer and inflammation, may also contribute to the risk of dying. Findings could help clinicians identify individuals most at risk from mortality and lead to earlier medical interventions.   

The study also discovered 392 proteins associated with an increased risk of death within a 5-year timeframe and a further 377 proteins associated with dying within 10 years, even when adjusting for health and lifestyle factors, such as smoking or pre-existing disease diagnoses. Proteins perform a wide range of essential functions in the body and are vital for growth, development, and the structure of every cell.  

Antarctic mountains could boost ocean carbon absorption

Glaciers transport sediments from Antarctica to the coast.
Photo Credit: Dr Kate Winter, Northumbria University

Research involving scientists from Newcastle University has revealed new hope in natural environmental systems found in Antarctica which could help mitigate the overall rise of carbon dioxide. 

As Antarctica's ice sheets thin due to climate change, newly exposed mountain peaks could significantly increase the supply of vital nutrients to the Southern Ocean which surrounds the continent, potentially enhancing its ability to absorb atmospheric carbon dioxide over long timescales, according to the research published in Nature Communications. 

Led by Northumbria University, a team of scientists looked at analysis of sediment samples from East Antarctica's Sør Rondane Mountains. They discovered that weathered rocks exposed above the ice surface contain iron concentrations up to ten times higher than previously reported from the Antarctic continent. This bioavailable iron is transported to the ocean by glaciers and icebergs, where it fuels the growth of phytoplankton – microscopic marine organisms that absorb CO₂ through photosynthesis. 

New Artificial Intelligence Model Could Speed Rare Disease Diagnosis

A DNA strand with a highlighted area indicating a mutation
Image Credit: Scientific Frontline

Every human has tens of thousands of tiny genetic alterations in their DNA, also known as variants, that affect how cells build proteins.

Yet in a given human genome, only a few of these changes are likely to modify proteins in ways that cause disease, which raises a key question: How can scientists find the disease-causing needles in the vast haystack of genetic variants?

For years, scientists have been working on genome-wide association studies and artificial intelligence tools to tackle this question. Now, a new AI model developed by Harvard Medical School researchers and colleagues has pushed forward these efforts. The model, called popEVE, produces a score for each variant in a patient’s genome indicating its likelihood of causing disease and places variants on a continuous spectrum.

Why Do We Have a Consciousness?

Albert Newen from the Institute of Philosophy II
Photo Credit: © RUB, Marquard

What is the evolutionary advantage of our consciousness? And what can we learn about this from observing birds? Researchers at Ruhr University Bochum published two articles on this topic. 

Although scientific research about consciousness has enjoyed a boom in the past two decades, one central question remains unanswered: What is the function of consciousness? Why did it evolve at all? The answers to these questions are crucial to understanding why some species (such as our own) became conscious while others (such as oak trees) did not. Furthermore, observing the brains of birds shows that evolution can achieve similar functional solutions to realize consciousness despite different structures. The working groups led by Professors Albert Newen and Onur Güntürkün at Ruhr University Bochum, Germany, report their findings in a current special issue of the journal Philosophical Transactions of the Royal Society B.