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 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

The participant’s parents first noticed delays in her motor development at 6 months. These delays, and other delays in her development, became more noticeable over time. At 7 years old, she began to have frequent drop attacks, which were eventually identified as seizures. She was started on valproic acid, which … read more

At 10 months of age, the participant was found to have low muscle tone (hypotonia) and developmental delay. He said his first words at 9 months and has added vocabulary slowly over the years. According to his speech therapist, he has a diagnosis of dysarthria. He began walking at 28 … read more

Top