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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


Participant was born prematurely at 30 weeks 5 days. She was born with restricted growth (IUGR), finger anomalies including right thumb hypoplasia (seen in mosaic trisomy 4), and a congenital heart defect (moderated VSD). She was noted to have skull abnormalities (metopic craniosynostosis, plagiocephaly). She also has some differences in … read more

The participant was born prematurely at 31 weeks gestation. At birth, he was noted to have clubbed feet (bilateral talipes equinovarus) which were successfully cast. He received his nutrients through an NG (nasogastric) tube. He was discharged from the NICU after 6 weeks. At 3 months of age, the participant … read more

hypoglycemia and developmental delay

The patient was diagnosed with a heart defect (tetralogy of Fallot with pulmonary atresia) before she was born, which was repaired after birth. She was also found to have problems with the connection between her brain and spinal cord (Chiari I malformation) and the spinal cord itself (tethered cord). She … read more

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