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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


The participant was born after a pregnancy complicated by insulin-controlled gestational diabetes, reduced fetal movement, and polyhydramnios.   Soon after birth, she was noted to have low muscle tone (hypotonia) and dysmorphic features.  She struggled with feeding from birth and was notably irritable as a baby. At 5 months old, she … read more

CCDC40 & DNAH11

The patient was born early at 35 weeks. During the first few months of her life, she had multiple episodes of “turning blue” (cyanotic episodes) and was diagnosed with many upper respiratory and ear infections. She also had bronchitis and pneumonia several times. Around age 6, she started to complain … read more

TRIP12

The participant had growth delay before and after birth, and was referred to genetics by his primary care provider at the age of 3 due to concerns of developmental delay and autism. Currently he is receiving behavioral therapy. He also has distinctive facial features, including full cheeks, downturned corners of … read more

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