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Our Current Research

Model Organisms

The Model Organisms Screening Center (MOSC) for the UDN is a collaborative center with investigators from Baylor College of Medicine and University of Oregon. The MOSC allows for world-renowned experts in Drosophila (fruit fly) and Zebrafish genetics and biology to tackle undiagnosed diseases.

Publications

Genes of interest

NBEA P3H1 FLG MUSK SSPO KMT2B

Meet Our Participants


The participant’s parents began to have concerns about her development when she stopped babbling at 3 months. She started to have different eye movements around 6 months and, when she began walking at 18 months, she walked differently (ataxic gait). She was treated with rituximab, IVIG, and ACTH, which helped … read more

tall stature, occipital protuberance, atrial fibrillation

Starting in early childhood, the participant experienced chronic diarrhea with excess fat in his stool (steatorrhea), fragile and sagging skin (cutis laxa), and poor wound healing. At 11 years old, a heart murmur was detected. Later in life, the participant was diagnosed with atrial fibrillation and heart muscle disease (cardiomyopathy). … read more

Shortly after birth, it was noticed that the participant had a large indentation of the skin on his lower back (sacral dimple) and large spaces between the bones of his skull (large fontanelles), but ultrasounds of the spine and head were normal. He was also found to have abnormal breathing … read more

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Participant 068’s parents began to have concerns about her development when she stopped babbling at 3 months. She started to have different eye movements around 6 months and, when she began walking at 18 months, she walked differently (ataxic gait). She was treated with rituximab, IVIG, and ACTH, which helped her ataxia, but her different eye movements, tremor, and unsteadiness remained. She also struggled with learning how to talk. Talking continues to be difficult for her.

The participant had her first seizure (generalized tonic clonic) at 14 months. Her seizures improved after being put on valproic acid. A year later, she started having diarrhea and weight loss and was diagnosed with ulcerative colitis. Soon after, she had daily abdominal pain with episodes of pancreas inflammation (pancreatitis). At the age of 5, she had an episode where she was very confused and unable to recognize her immediate family members. During this episode, she also stumbled and was uncoordinated. These episodes have continued and she currently has them about every week.

Take a look at her page and please let us know if you know someone with similar symptoms!

In case you missed it: hear from UDN investigators David Goldstein, Vandana Shashi, and Bret Bostwick as well as our friends at MyGene2 in this article by Amanda Keener for The Scientist's special issue on rare diseases.

Shortly after birth, it was noticed that UDN Participant 067 had a large indentation of the skin on his lower back (sacral dimple) and large spaces between the bones of his skull (large fontanelles). He was also found to have abnormal breathing (stridor) and required surgery at 4 months to correct this. After surgery, he had weak cartilage in the walls of his larynx (laryngomalacia) and developed difficulty breathing while sleeping (sleep apnea) at 7 months. He started walking at 18 months, but was unstable and would walk on his toes. Currently he can walk short distances, but tires easily.

Please take a look at his page and let us know if you know someone with similar symptoms!

New UDN Participant Page (066) describes an 11 year old girl diagnosed with Wieacker-Wolff syndrome caused by a Xq11.2 deletion. Click the photo below to review her page and learn more about this rare genetic condition.

UDN Participant 065 was healthy and developing normally until age 3. At this time, his parents noticed that he was walking with a waddling gait. Since then, he has had difficulty climbing stairs, running, and getting up from a squatted position. He also has an irregular heartbeat and experiences difficulty breathing. Some of his other symptoms include low muscle tone, muscle weakness, scoliosis, poor appetite, and elevated levels of creatine phosphokinase in the blood. Please take a moment to review his page and contact us if you know someone with similar symptoms.