Researchers have announced that a vast amount of genetic data will soon be accessible to scientists, paving the way for groundbreaking medical advancements.

Scientists from various countries are now able to request access to examine the complete genetic makeup of 500,000 participants in UK Biobank, a scientific study that has collected extensive information on health and behaviors of individuals over the course of two decades.

On Thursday, a significant number of whole-genome sequences were made available for medical research. These sequences will be combined with UK Biobank’s data and other information to thoroughly study the genetic factors related to various conditions such as obesity, diabetes, heart disease, cancer, as well as individuals’ sleeping and exercise habits.

Scientists think that the new information will enable them to determine the individual risk levels of people for various types of cancers and other illnesses. This will help identify those who would most benefit from early screening.

Students should also develop a more comprehensive comprehension of severe genetic disorders like Huntington’s disease and motor neuron disease, which have been frequently researched in limited populations of highly impacted individuals.

Prof Sir Rory Collins, principal investigator at UK Biobank, described this as a valuable resource for approved scientists conducting health research. He believes it will have a significant impact on improving diagnoses, treatments, and cures worldwide.

Health professionals from various sectors including academia, government, industry, and charities are eligible to request access to a secure database containing genome data. However, their access must be approved and the database will not include any identifying information such as names, addresses, birth dates, and GP information.

The likelihood of a person developing a disease is often influenced by a combination of their genetics, lifestyle, and surroundings. Through analyzing the complete genetic makeup of hundreds of thousands of individuals, scientists can pinpoint specific gene variations that play a role in various diseases and determine which ones could be potential targets for medication.

Prior to 2021, researchers were only able to analyze 1% of the DNA from volunteers in the UK Biobank, focusing on the portion that contains protein-coding genes. However, as of 2021, the entire genetic makeup of 200,000 participants has been made available, but efforts are still ongoing to sequence the DNA of all 500,000 volunteers.

With the abundance of complete genetic sequences available, scientists will have the ability to identify less common genes responsible for diseases, including those that act as regulators and control the activity of other genes.

According to Sir John Bell, a professor of medicine at Oxford University, having access to complete genomes would simplify the process for researchers to identify uncommon genetic variations that are present in only a few individuals. These variations can be essential in comprehending diseases.

“According to Bell, just identifying a couple of individuals can provide insight into the potential functions of a gene and its involvement in disease. This is extremely valuable for drug discovery and gaining a better understanding of the overall role of genes in biology. The magnitude of this impact cannot be underestimated.”

Aiden Doherty, professor of biomedical informatics at Oxford, will study the genomes to understand which genes affect people’s sleep and levels of physical activity. Some of these genes are expected to have broader health implications since poor sleep and inactivity are strongly linked to ill health.

According to Doherty, this will be a significant development. What are the genetic factors that influence certain individuals to be more physically active and have better sleep than others?

I am unsure of what we will uncover, but I am eagerly anticipating the discovery. Is it possible that within this abundance of data, we may discover a potential target that emulates the benefits of physical activity? I cannot guarantee that we will find such a thing, but it is our most promising possibility.

Dr. Zahra Raisi-Estabragh, an academic clinical lecturer at Queen Mary University of London, utilizes medical imaging data from the UK Biobank to detect subcategories of obesity.

Some individuals store fat under their skin, while others have it gather around their internal organs. The researcher stated that fat surrounding the heart has a unique ability to cause disease, unlike fat in other areas.

She intends to examine the genomes of the UK Biobank in order to identify the genetic variations that contribute to unhealthy levels of body fat. This will help identify those who are at the highest risk. She believes there is great potential for new scientific findings through this research.

Source: theguardian.com