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 participant was born after a pregnancy complicated by bleeding at 20 weeks and delivered by c-section due to fetal distress at 40 weeks. Her parents became concerned when she was 2 months old because she had low muscle tone. Her head was also leaning to one side (congenital muscular … read more
The participant first noticed muscle weakness in his left calf at 42 years old. After 8 months, the participant had difficulty with both legs going up stairs. This progressed to involve weakness in the arms and legs and trouble getting up from a chair. The participant had an MRI of … read more
The participant was healthy and very active until he started to notice differences in his athletic ability in his 20s. He first developed muscle weakness in his hand and then muscle twitching (fasciculations) and cramps in his arms. An EMG showed lower motor neuron disease and a muscle biopsy identified … read more
