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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

P3H1 FLG MUSK SSPO KMT2B GDF11

Meet Our Participants


The participant was healthy until the age of 9 when she started complaining about seeing spots and the color purple. During some of these episodes, she would completely lose her vision. This loss of sight would last anywhere from 2 to 10 seconds. She was started on Tileptal, but the … 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, 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

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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.

At birth, UDN Participant 064 had trouble feeding and required G-tube feeding until 3 months of age. A skeletal survey revealed low bone density and a bone fracture. An EMG suggested that he may have a denervating condition, such as a motor neuron disorder. Testing for spinal muscular atrophy was performed, but was negative. Given his contractures, the participant was diagnosed with arthrogryposis multiplex congenita. Three years ago, the participant’s younger twin brothers were born, and one of his brothers showed similar symptoms. Both brothers currently have elbow contractures, mild wrist contractures with severe weakness, and severe hip contractures. The participant is wheelchair bound and his younger brother is able to sit independently, but is unable to crawl. Despite these physical challenges, both boys are very bright, articulate, and interactive. Please take a moment to review their page and contact us if you know someone with similar symptoms.