Tag: underlying

Studies that started in zebrafish have now pointed to a role for collagen secretion in a wide variety of clinical symptoms—and in a newly identified genetic syndrome. Ela Knapik, MD, associate professor of Medicine at Vanderbilt University Medical Center, and her colleagues discovered the syndrome caused by mutation of a single gene and named it

Inflammatory bowel diseases are chronic, painful disorders of the intestine that afflict roughly 1.5 million people in the United States. Yet the underlying mechanisms of these diseases, which include ulcerative colitis and Crohn’s disease, are not well understood. Even patients with the same diagnosis can have drastically different responses to treatment, and their symptom flare-ups

One of the most frequent causes of drug-resistant epilepsy, considered a difficult disease to control, is a brain malformation known as focal cortical dysplasia. Patients with this problem present with discreet disorganization in the architecture of a specific region of the cortex, which may or may not be associated with the presence of nerve cells