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

ETFDH WRNIP1 PRDM16 PIK3CD MED13L BSN

Meet Our Participants


The patient was born with a heart defect (patent foramen ovale), two ureters connected to the left kidney instead of one (renal duplication), a small head size (microcephaly), low thyroid hormone production (congenital hypothyroidism), a small jaw (micrognathia), an abdominal wall defect (omphalocele), and a narrowing of the anal canal … read more

The participant was born at 37 weeks gestation. He weighed around 4.9 pounds at birth. He was exposed to many substances before he was born (nicotine, cocaine, heroin, methadone, and oxycodone). After birth, he stayed in the NICU for 5 weeks due to neonatal abstinence syndrome and feeding difficulties. He … read more

At 7 months old, the participant had his first seizure. He started taking phenobarbital and did not have additional seizures until age 5. While weaning off of phenobarbital at age 5-6, the participant began experiencing lower extremity pain and uncontrollable movements. He restarted phenobarbital; however, his symptoms continued to progress. … read more

Top