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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


Cataracts

As an infant, the patient had low muscle tone (hypotonia) and was not meeting developmental milestones. She started wearing hearing aids at the age of 17 months due to hearing loss (sensorineural) and was diagnosed with cataracts at 2 years old. She had one seizure at 6 years old, but … read more

As a child, the participant was found to have webbed toes (syndactyly) and flat feet. He had surgery for flat feet when he was 12 years old, which included bone grafts and an Achilles tendon release. Around this time he was also diagnosed with a mild curvature of the spine … read more

At 10 months of age, the participant was found to have low muscle tone (hypotonia) and developmental delay. He said his first words at 9 months and has added vocabulary slowly over the years. According to his speech therapist, he has a diagnosis of dysarthria. He began walking at 28 … read more

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