medicine
Solving A Medical Mystery: The Math Behind Crohn’s Disease Akankshya Jena Finding a cure for a disease is a seemingly insurmountable task. It is complicated enough that patients do not all have the same disease presentation or characteristics because of the diversity of their backgrounds. When considering environmental factors and genetics in the slew of possible causes, each patient now requires a unique treatment plan, from diagnosis to post-operative therapy (Figure 1). The scenario describes a wide range of complex diseases that, as one would expect, are too heterogenous to have an overarching cure. While biological research has made substantial contributions towards the cure of complex diseases, Dr. Terry Furey, a computational biologist in the UNC School of Medicine, approached the problem differently. In a world where technology has allowed scientists to collect more and more data, Dr. Furey recognized the growing importance of data in science and the need for computational analyses to translate it into applicable results. With this in mind, Dr. Furey decided to Dr. Terrence Furey combine statistics and genetics to study the heterogeneity of Crohn’s disease.1 Crohn’s disease (CD) falls under the umbrella of inflammatory bowel diseases (IBDs). IBDs are disorders resulting from abnormal immune system responses to intestinal bacteria, specifically in patients who are genetically predisposed to have the condition.2 CD is a chronic condition known for causing inflammation in the ileum and colon of the gastrointestinal (GI) tract (Figure 1). When foreign bacteria enter the GI tract, the immune system creates ulcers to combat and engulf the bacteria. In
Figure 1: Diagram of factors affecting origin and course of Crohn’s Disease. Image courtesy of Dr. Terrence Furey.
the case of CD, the immune system is unable to turn itself off, meaning the ulcers remain unless treated with medicine or surgery. Based on ulcer location, patients can experience a variety of symptoms, ranging from abdominal pain and diarrhea to loss of appetite and fatigue.3 IBDs have remained a medical mystery for decades because of their heterogeneity; no single treatment can be assumed to treat all forms of the disease, and genetic testing reveals little about onset or subsequent treatment plans. However, finding similarities among subtypes of the disease provides insight on treatment plans that cater to a certain group of patients who experience similar symptoms or develop similar associated diseases.4 Thus, Dr. Furey and his colleagues have investigated the possibility of associating genetic factors with the diverseness of CD. He uses a process known as genetic association analysis, which is essentially a statistical test that matches genotypical, or genetic, features with the expressed phenotypical,
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