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 met all of his milestones until the age of 4 months when he stopped progressing. At 5 months, he began to have infantile spasms and high levels of alanine and lactate were found in his blood (hyperalaninemia and increased serum lactate). The spasms stopped a few months later … read more

The participant was born by emergency cesarean section at 38 weeks. After failing to meet his developmental milestones, he was diagnosed with global developmental delay and low muscle tone (generalized hypotonia). At one-year-old, the participant began to have frequent seizures. Anti-seizure medications have helped reduce the number of seizures. He … read more
The participant noticed that he was weaker than his peers in childhood. At age 23, he noticed difficulty getting up from a squatting position and climbing stairs, and began experiencing progressive muscle weakness involving muscles in his arms, legs, face, and eyes. He also developed heart muscle disease (dilated cardiomyopathy) … read more
