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

PRDM16 PIK3CD MED13L BSN MED14 MARS1

Meet Our Participants


The participant’s seizures were first noticed when he was 2 days old. However, they may have started during the pregnancy since some movements were noticed in utero. These seizures were described as small jerking motions. He spent 5 days in the NICU and was discharged with seizure medication. He was … read more

In infancy, the participant never cried and had limited motion. He began to show signs of global developmental delay shortly after birth. Currently he can sit up unassisted and can transition between sitting up and laying down. He can hold and drink from a sippy cup, babble, and use gestures … read more

The participant experienced early gross motor developmental delays. During her first two years of life, she had language delays and low muscle tone (hypotonia). She sat at 12 months and walked at 24 months. She began to experience severe epileptic encephalopathy starting at age 3. Specifically, the participant experiences multiple … read more

Top