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 was born with a heart defect (patent foramen ovale), two ureters connected to the left kidney instead of one (renal duplication), a small head size (microcephaly), low thyroid hormone production (congenital hypothyroidism), a small jaw (micrognathia), an abdominal wall defect (omphalocele), and a narrowing of the anal canal … read more

The participant was born at 37 weeks gestation. He weighed around 4.9 pounds at birth. He was exposed to many substances before he was born (nicotine, cocaine, heroin, methadone, and oxycodone). After birth, he stayed in the NICU for 5 weeks due to neonatal abstinence syndrome and feeding difficulties. He … read more

At 7 months old, the participant had his first seizure. He started taking phenobarbital and did not have additional seizures until age 5. While weaning off of phenobarbital at age 5-6, the participant began experiencing lower extremity pain and uncontrollable movements. He restarted phenobarbital; however, his symptoms continued to progress. … read more
