How AI Helped Scientists Discover the Genes That Shape Our Bones 🦴

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21 Jul 2023

🤔Have you ever wondered why some people have longer legs than arms or wider hips than shoulders? Or why some people are more prone to develop arthritis, back pain, or knee problems as they age? The answers may lie in our genes -; the tiny units of DNA that carry instructions for our bodies.

🧩But finding out which genes are responsible for our skeletal proportions is not an easy task. There are thousands of genes in our genome, and each one may have a subtle effect on how our bones grow and develop. Moreover, our bones are not static -; they change over time as we grow, age, and adapt to our environment.

📛That’s why a team of researchers from The University of Texas at Austin and the New York Genome Center decided to use artificial intelligence (AI) to analyze tens of thousands of X-ray images and genetic sequences from people around the world. Their goal was to pinpoint the genes that shape our skeletons, from the width of our shoulders to the length of our legs.
Their research, published as the cover article in Science, pulls back a curtain on our evolutionary past and opens a window into a future where doctors can better predict patients’ risks of developing conditions such as back pain or arthritis in later life.

How AI Can Measure Bones 🔬

👩‍🔬The researchers used deep learning models -; a type of AI that can learn from data without explicit rules -; to perform automatic quantification on 39,000 medical images. These images were taken from various sources, such as UK Biobank, a large-scale biomedical database that contains health and genetic information from half a million volunteers.
The deep learning models were able to measure distances between shoulders, knees, ankles, and other points in the body with high accuracy and speed. By comparing these measurements to each person’s genetic sequence, they found 145 points in the genome that control skeletal proportions.

🔬“Our research is a powerful demonstration of the impact of AI in medicine, particularly when it comes to analyzing and quantifying imaging data, as well as integrating this information with health records and genetics rapidly and at large scale,” said Vagheesh Narasimhan, an assistant professor of integrative biology as well as statistics and data science, who led the multidisciplinary team of researchers.

How Bones Reveal Our Evolutionary History 🐒

😊Humans are the only large primates to have longer legs than arms, a change in the skeletal form that is critical in enabling the ability to walk on two legs. This trait is called bipedalism, and it is one of the key features that distinguish us from our closest relatives, such as chimpanzees and gorillas.

🧪The scientists sought to determine which genetic changes underlie anatomical differences that are clearly visible in the fossil record leading to modern humans, from Australopithecus to Neanderthals. They also wanted to find out how these skeletal proportions allowing bipedalism affect the risk of many musculoskeletal diseases such as arthritis of the knee and hip -; conditions that affect billions of people in the world and are the leading causes of adult disability in the United States.

❇️They discovered that some of the genes that influence skeletal proportions are also involved in regulating bone density, cartilage formation, joint development, and muscle function. These genes may have played a role in adapting to different environments and lifestyles throughout human evolution.

📌For example, one gene called GDF5 is associated with both longer legs and a lower risk of knee osteoarthritis. This gene may have been beneficial for early humans who migrated out of Africa and faced colder climates and more rugged terrains.

Another gene called HOXD13 is linked to both shorter arms and a higher risk of back pain. This gene may have been detrimental for early humans who relied on climbing trees for food and shelter.

📛“Our work provides a road map connecting specific genes with skeletal lengths of different parts of the body, allowing developmental biologists to investigate these in a systematic way,” said Tarjinder (T.J.) Singh, the study’s co-author, and associate member at NYGC and assistant professor in the Columbia University Department of Psychiatry.

How Bones Affect Our Health and Well-Being 🩺

✨The team also examined how skeletal proportions are associated with major musculoskeletal diseases and showed that individuals with a higher ratio of hip width to height were found to be more likely to develop osteoarthritis and pain in their hips. Similarly, people with higher ratios of the femur (thigh bone) length to height were more likely to develop arthritis in their knees, knee pain, and other knee problems. People with a higher ratio of torso length to height were more likely to develop back pain.

✴️“These disorders develop from biomechanical stresses on the joints over a lifetime,” said Eucharist Kun, a UT Austin biochemistry graduate student and lead author on the paper.
The researchers hope that their findings will help doctors to better diagnose, prevent, and treat these common and debilitating conditions. For example, they could use AI to measure skeletal proportions from X-ray images and then use genetic tests to identify patients who are at higher risk of developing certain diseases. They could also use this information to design personalized interventions, such as physical therapy, exercise, or medication, that could reduce the impact of these diseases on the quality of life of patients.

📗“Our study shows that AI can be a powerful tool for understanding the complex relationship between genes, bones, and diseases. It can also help us appreciate the diversity and beauty of human anatomy,” said Narasimhan.

What Do You Think? 💭

📢We hope you enjoyed reading this article and learned something new about how AI helped scientists discover the genes that shape our bones. Do you think AI can help us learn more about our bodies and health? How do you feel about your own skeletal proportions? Do you have any questions or comments about this topic? Let us know in the comments section below!

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📚 Sources:

(1) AI-powered study pinpoints genes that shape bones - News-Medical.net.
(2) Genes That Shape Bones Identified, Offering Clues About Our Past and.. | UT News
(3) Genes That Shape Bones Identified, Offering Clues About Our Past and ...| Link
(4) Team pinpoints genes that shape our skeletons - Futurity.

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