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

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

During the first few months of life, the patient was noticed to have slow growth and developmental delay. He was not visually tracking, focusing on faces, or responding to some sounds. At 8 months, he was found to have cataracts in both eyes and was diagnosed with infantile spasms. A … read more

The participant’s mother had an uncomplicated pregnancy with normal labor and delivery. He met all of his developmental benchmarks until he was 24 months, at which he began to plateau. At 26 months, the participant’s motor and speech skills began to regress, and he began to be less social. The … read more
