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 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

IFIH1 TRIP12 MECR ADNP SMARCC2 HGSNAT

Meet Our Participants


During the first few years of her life, the participant was developing as expected. She learned to walk at 11 months and talk at 12 months, and was described as a sweet, mature, well-behaved child who could sing entire songs and write complete sentences. Upon entering kindergarten, she succeeded academically, … 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

Follow Us

Follow us on social media for real-time research updates.

Have questions about rare and undiagnosed diseases? Join us this Monday Feb. 26 for our second annual Reddit AMA! We will share the link to post and vote for questions on Monday morning.

Facebook photo

Previously healthy and athletic, UDN Participant 021 has been suffering from an undiagnosed progressive neurological syndrome since he was 22 years old. His UDN evaluation not result in a diagnosis, and the search for answers for him and his family continues. Please take a minute to review his page and contact us if you know someone with similar symptoms.

The second issue of the UDN Participant Engagement and Empowerment Resource (PEER) newsletter is now online. This issue includes stories by a genetic counselor at the Duke UDN clinical site and the mother of a UDN participant that is still undiagnosed. The work of the UDN Coordinating Center is also featured.

Our Reddit Ask Me Anything (AMA) is less than a week away! Not sure how AMAs work? Check out this recap from last year!

New UDN participant page (053) describes an 8 year old boy found to have TRIP12 associated autism with facial dysmorphology, which is caused by a heterozygous variant in the TRIP12 gene.