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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 first noticed to have short stature when she was 6 years old. Around 7-8 years old, she was found to have an abnormal eye structure (abnormality of the cornea morphology and corneal endothelium), hearing impairment (sensorineural), and a hand tremor. Her hearing impairment and tremor have worsened … read more

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

The participant spent the first 19 days after birth in the neonatal intensive care unit (NICU) because of respiratory distress, feeding issues, low muscle tone (hypotonia) and slow heart rate (bradycardia). She was also found to have a heart defect (atrial septal defect). An initial MRI showed almost complete lack … read more

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