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
At birth, these patients were found to have cleft palate, which required surgery to repair. Shortly after, they were noticed to have very low muscle tone (hypotonia) in the arms and neck. The younger sister has increased muscle tone in her legs and wears braces at night on both ankles … read more

The participant was in excellent health until about three years ago when she started experiencing severe bilateral vocal cord spasms. This came on very suddenly and impacted her ability to breathe. She underwent an emergency tracheostomy and, since this procedure, her breathing has improved greatly. Over the past few years, … read more

At age 5, the participant underwent a procedure to ease the symptoms of her brain abnormality (Arnold-Chiari type I malformation). She was later found to have a fluid-filled cyst in her spinal cord (syrinx), which has caused back pain. She was also noted to have delayed speech and motor development … read more
