The role of medical imaging in rare diseases

Medical imaging has revolutionized the way medical professionals diagnose and treat a variety of medical conditions. From X-rays to MRI scan, these technologies allow healthcare providers to visualize what is happening inside a patient's body in real-time, providing critical information for accurate diagnoses and effective treatments. This is especially important when it comes to rare diseases, which often go undiagnosed for years or even decades due to their complex and often elusive symptoms.

Less than 200,000 Americans are said to be affected by a rare disease, according to the definition. There are over 7,000 known rare diseases, and while they may individually affect a small number of people, collectively they affect over 400 million people globally. These conditions are often genetic in nature, and their symptoms can be difficult to diagnose due to their rarity and complexity.

Here are some examples of rare diseases:

- Huntington's Disease - a genetic disorder that affects the brain and nervous system, causing movement problems, psychiatric symptoms, and cognitive decline;

- Cystic Fibrosis - a hereditary condition that  damages the lungs and digestive system by creating a buildup of mucus that leads to infections and cause lung damage.

- The neurodegenerative condition ALS (Amyotrophic Lateral Sclerosis), popularly known as Lou Gehrig's disease, destroys nerve cells in the brain and spinal cord and causes muscle weakness, trouble breathing and speaking, and eventually paralysis.

- An inherited condition called Marfan Syndrome damages the body's connective tissue and can cause issues with the bones, heart, and eyes.


The lack of knowledge and expertise among medical professionals is one of the main obstacles to correctly diagnosing and treating rare diseases. The symptoms of many uncommon diseases are identical, making it challenging to pinpoint the underlying problem. This is where medical imaging can play a crucial role in providing a window into the inner workings of a patient's body, allowing medical professionals to identify the root cause of a patient's symptoms and make an accurate diagnosis.

Medical Imaging advances in rare diseases patient care:

For example, one of the most commonly used medical imaging techniques for diagnosing rare diseases is magnetic resonance imaging (MRI). This technique creates precise images of the inside of the body using radio waves and powerful magnetic fields.  MRI can be used to identify abnormalities in the brain, spine, and other parts of the body that may be contributing to a patient's symptoms. In some cases, MRI can even be used to detect genetic mutations that are causing a patient's condition. Another medical imaging technology that is commonly used in the diagnosis of rare diseases is computed tomography (CT) scans. X-rays and computer processing are used in CT scans to create finely detailed cross-sectional pictures of the body. CT scans can provide a more comprehensive view of the body than traditional X-rays, making them especially useful for detecting internal abnormalities that may be contributing to a patient's symptoms.

Medical imaging can also play a crucial role in the treatment of rare diseases. For example, a patient with a rare disease may require surgery to remove a tumor or repair a damaged organ. In these cases, medical imaging can be used to guide the surgeon in real-time, allowing them to see exactly where they are working and make precise cuts to minimize the risk of damage to surrounding tissue.

In addition to its diagnostic and therapeutic uses, medical imaging can also play a critical role in monitoring the progress of a patient's condition over time. Regular imaging exams can give medical doctors vital information about how a patient's health is changing, enabling them to choose the best course of therapy. This is crucial in rare diseases when a particular treatment's effects might not be immediately noticeable.

Given the current global health crisis, the role of medical imaging in the detection and treatment of rare diseases is particularly crucial.

The COVID-19 pandemic has disrupted healthcare systems around the world, making it more challenging for patients with rare diseases to access the care and resources they need. By providing critical information about a patient's condition, medical imaging can help ensure that these patients receive the proper care and treatment, even in the midst of a global pandemic.

In conclusion, the diagnosis and management of rare diseases depend heavily on medical imaging. With its ability to provide detailed images of the inside of a patient's body, medical imaging can help medical professionals identify the root cause of a patient's symptoms and make an accurate diagnosis. It can also play a critical role in the treatment of rare diseases, guiding surgeons and helping to monitor the progress of a patient's condition over time


About the author - Andra Bria

Andra Bria is a growth marketer at Medicai. She is interested in health equity, patient experience and care pathways. She believes in interoperability and collaboration for a more connected healthcare industry.