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 Common Fund 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
The participant’s mother experienced a complicated full-term birth due to brow presentation (abnormal position during birth). However, the participant did not need to stay in the NICU and went home with her parents. Her parents first became concerned about her development at 6 weeks due to lack of head control … read more
Starting in early childhood, the participant experienced chronic diarrhea with excess fat in his stool (steatorrhea), fragile and sagging skin (cutis laxa), and poor wound healing. At 11 years old, a heart murmur was detected. Later in life, the participant was diagnosed with atrial fibrillation and heart muscle disease (cardiomyopathy). … read more
The patient began experiencing muscle weakness and tiredness around 9 years old. He was found to have problems with coordination (ataxia), drooping eyelids (ptosis), and rapid, uncontrolled eye movements (nystagmus). A brain MRI showed moderate atrophy of his cerebellum. His symptoms have progressed quickly and he now requires the use … read more