video

Our Current Research

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.

Genes of interest

WRNIP1 PRDM16 PIK3CD MED13L BSN MED14

Meet Our Participants


The participant was born at full term with no complications during pregnancy. He had jaundice during the neonatal period, which was treated with a Biliblanket. At 2 months of age, his pediatrician noticed a decline in weight gain and diagnosed him with failure to thrive. The participant was followed for … read more

The participant was referred to the UDN due to a complex history including tall stature, recurrent joint pain (arthralgia), and immune deficiency. She also has back pain and was previously been found to have Bertolotti syndrome and slipped vertebrae (spondylolisthesis). At 5 years old, she was found to have inflammation … read more

The participant had normal development until about 6 years. Around that time, her development plateaued. At age 9 she began having seizures, which have worsened over time. The participant has some brain abnormalities (cortical dysplasia and an EEG with generalized slow activity); however, clinicians do not believe these findings explain … read more

Top