video
0

Applications Received

0

Applications Under Review

0

Participants Accepted

0

Participants Evaluated

0

Participants Diagnosed

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.

Publications

Genes of interest

ATP6V1A CHKB NOS1 CDK18 SUN1 GABRB2

Meet Our Participants


The participant’s parents first became concerned with his development when he was 6 months old and not yet rolling. He eventually did roll over at 8 months and was walking at 26 months. He began babbling at 14 months, but is currently nonverbal. At 11 months, he started having seizures. … read more

The participant is a former elementary school teacher who developed painful redness of her feet and hands when she was 44 years old. At first the redness would come and go, but now it is nearly constant. Aspirin provided relief initially but is no longer helpful. Colder temperatures currently provide … read more

Shortly after birth, the patient was noticed to have decreased tone and difficulty breathing. She struggled to drink from a bottle and would breathe liquids into her airway (aspirate). At 6 months, a G tube was placed. Currently she struggles with chewing and swallowing and is unable to drink out … read more