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

Around 5 months old, the participant was noticed to have low muscle tone (hypotonia), developmental delays, and difficulty growing (failure to thrive). He also had respiratory failure due in part to compression of his left mainstem bronchus by his aorta, which was corrected with surgery. During his first year of … read more

At age 5, the participant underwent a procedure to ease the symptoms of her brain abnormality (Arnold-Chiari type I malformation). She was later found to have a fluid-filled cyst in her spinal cord (syrinx), which has caused back pain. She was also noted to have delayed speech and motor development … read more

Participant was born prematurely at 30 weeks 5 days. She was born with restricted growth (IUGR), finger anomalies including right thumb hypoplasia (seen in mosaic trisomy 4), and a congenital heart defect (moderated VSD). She was noted to have skull abnormalities (metopic craniosynostosis, plagiocephaly). She also has some differences in … read more
