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 full term. His mother smoked tobacco during pregnancy and used alcohol prior to knowledge about pregnancy but otherwise had an uncomplicated birth history. He was born with an undescended testicle (cryptorchidism) and had a surgical repair at 16 months old. His replaced testicle did not grow, … read more

Around age 60, the patient started having recurrent episodic fevers, with associated muscle/joint pain and a hive-like rash across his upper chest and abdomen that would come and go with the fevers. He had extensive evaluation for occult infection or malignancy that was unrevealing. He was trialed on numerous immunosuppressive … read more

The participant was late to achieve early milestones and said her first words at 2.5 years of age. She was identified to have severe intellectual disability and language delay, with receptive language better than expressive language. The participant currently has 10-20 words and has difficulty speaking (speech apraxia). In addition, … read more
