Every year hundreds of patients face uncertainty when healthcare providers are unable to discover the cause for their symptoms.
The Undiagnosed Diseases Network (UDN) is a research study backed by the National Institutes of Health that seeks to provide answers for patients and families affected by these mysterious conditions.
Model Organisms
The Model Organisms Screening Center (MOSC) for the Undiagnosed Diseases Network (UDN) is composed of two Centers that use fruit fly (Drosophila melanogaster), nematode worm (Caenorhabditis elegans) and zebrafish (Danio rerio) genetics and biology to tackle rare and undiagnosed diseases.
Publications

Around age 60, the patient started having recurrent episodic fevers, with associated muscle/joint pain and a hive-like rash across his upper chest and abdomen that would come and go with the fevers. He had extensive evaluation for occult infection or malignancy that was unrevealing. He was trialed on numerous immunosuppressive … read more

The participant was born at 38 weeks after a complicated pregnancy involving preterm labor. There were no complications at the time of birth. At 8 weeks old, he was diagnosed with Shone Complex, a combination of several heart defects (coarctation of the aorta, bicuspid aortic valve, aortic valve stenosis, abnormal … read more

The participant was born after an uncomplicated pregnancy, however, she had difficulty breathing after birth. She was also found to have a heart murmur and heart abnormalities (hypoplastic left heart syndrome, mitral stenosis, mitral regurgitation, aortic insufficiency, endocardial fibroelastosis). Due to poor ventricular function, she could not have surgery and … read more
