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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 at 40 weeks gestation. She was transferred to the NICU due to significant weight loss and mild elevation of sodium levels. She was discharged from the NICU two days later with no follow-up required. She said her first word at 8 months and began walking before … read more

infantile spasms

The patient was born early at 37 weeks and was found to have bruised eyes and bleeding in the space between his scalp and skull (subgaleal hematoma). At two days old, he was sent to the NICU for low blood sugar (hypoglycemia), but was released after two days. Over time, … read more

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