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

Shortly after birth, the participant was found to have low blood platelet levels (thrombocytopenia), anemia, a heart defect (atrial septal defect), low muscle tone (hypotonia), cataracts, and a blueberry muffin rash. She required transfusions with packed red blood cells and platelets for anemia and nasogastric intubation (NG tube) for feeding. … read more
Early in life, the patient had trouble meeting her developmental milestones (global developmental delay). She struggled with speech (expressive and receptive language delay) and did not walk until age 3. At age 4, she started to have muscle weakness and spasms in her legs and arms (spastic paraparesis). She also … read more
