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.
The participant’s mother experienced a complicated full-term birth due to brow presentation (abnormal position during birth). However, the participant did not need to stay in the NICU and went home with her parents. Her parents first became concerned about her development at 6 weeks due to lack of head control … read more
At age 44, the participant developed a severe rash on her face, neck and inner elbows. She had UV light treatment which caused the rash to spread to the bottom of the chin and the chest. The rash is described as warm red patches that are not itchy or flaky. … read more
The participant was born at 39 weeks gestation and was treated in the NICU for 6 days due to low oxygen levels (hypoxia) caused by significant nasal congestion and airway obstruction. The participant’s motor delay was first noticed around 4-6 months old. At 8 months, he was noted to have … read more