According to researchers, a new age of medical breakthroughs, therapies, and remedies is approaching with the revelation that an unparalleled collection of genetic data will soon be accessible to scientists.
Researchers in the field of health from various countries are now able to submit applications to examine the complete genetic makeup of 500,000 participants in the UK Biobank, a biomedical research initiative that has gathered comprehensive records of individuals’ health and habits since its inception two decades ago.
On Thursday, a significant number of whole-genome sequences were made publicly available for medical research. These sequences will be combined with UK Biobank’s data and other information to extensively study the genetic factors associated with various health conditions such as obesity, diabetes, heart disease, cancer, as well as individual sleep and exercise habits.
Scientists think that the fresh information will enable them to determine personalized risk scores for various types of cancer and other illnesses. This will help them identify individuals who would benefit the most from early screening.
One should also acquire a more profound comprehension of severe genetic disorders like Huntington’s and motor neurone disease, which have typically been researched in limited samples of severely afflicted individuals.
Prof Sir Rory Collins, principal investigator at UK Biobank, described this as an invaluable resource for approved scientists conducting health research. He anticipates that it will lead to groundbreaking advancements in diagnoses, treatments, and cures worldwide.
Health professionals from universities, the government, businesses, and non-profit organizations are eligible to request access to the genomes. However, they must first receive approval and study the genetic information through a secure database that has removed any personal identifying information such as names, addresses, birth dates, and general practitioner details.
The likelihood of someone developing a disease is often influenced by a combination of genetics, lifestyle, and environment. Through the analysis of the complete genetic makeup of hundreds of thousands of individuals, scientists can pinpoint certain variations in genes that play a role in various diseases and determine potential targets for medication.
Prior to 2021, researchers were limited to analyzing only 1% of the genetic material from UK Biobank volunteers, specifically the portion that contains instructions for creating proteins. However, as of 2021, complete sets of genetic information have been made available for 200,000 participants, with ongoing efforts to sequence the genomes of all 500,000 volunteers.
With such a large quantity of complete genetic codes available, scientists will have the ability to discover extremely uncommon genes that contribute to the development of diseases. These genes may function as regulators, controlling the activation and deactivation of other genes.
According to Sir John Bell, the regius professor of medicine at Oxford University, obtaining complete genomes would simplify the process of identifying uncommon genetic variations that are only present in a small percentage of individuals, but are essential in comprehending diseases.
Bell explained that the mere identification of even just a few individuals can provide valuable insight into the function of a gene and its potential role in disease. This knowledge is crucial for drug discovery and for gaining a better understanding of the overall impact of genes in biology. The magnitude of the sample size is a critical factor in these endeavors.
Aiden Doherty, an expert in biomedical informatics from Oxford, plans to analyze genetic information to determine which genes impact an individual’s sleep patterns and physical activity levels. It is believed that certain genes may also have significant effects on overall health, as inadequate sleep and low levels of physical activity have been closely associated with poor health outcomes.
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Doherty stated that this will be a significant shift in the game. He posed the question of what genetic factors contribute to some individuals being more physically active and having better sleep than others.
“I am unsure of what we may uncover, but I am eager to discover. Is it possible that within this abundant amount of data, we may come across a potential target that can replicate the benefits of exercise? I cannot guarantee if this will be the case, but it is our most promising possibility.”
Dr. Zahra Raisi-Estabragh, a lecturer and clinical researcher at Queen Mary University in London, utilizes medical imaging from the UK Biobank to pinpoint specific subgroups within the population affected by obesity.
Certain individuals store fat under their skin, while others develop it around their internal organs. According to the researcher, the fat surrounding the heart has a greater likelihood of causing health issues compared to fat in other areas.
She intends to investigate the genomes of the UK Biobank in order to identify the genetic variations that contribute to unhealthy levels of body fat and identify those who are most susceptible to risk. She expressed excitement about the possibility of making a novel scientific breakthrough.
Source: theguardian.com
