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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

SMARCC2 HGSNAT GNAS SEPSECS TRA2B MGA

Meet Our Participants


SMARCC2

At 11 months old, the participant’s parents noticed that he was delayed developmentally and was unable to sit up on his own. He began walking with a walker at age 3. He was evaluated by neurology and received a brain MRI that showed an abnormality of brain white matter (periventricular … read more

Before the participant was born, he was found to have heart problems (borderline hypoplastic left heart variant, coarctation of the aorta) on an ultrasound. At birth, he had severe heart failure and was started on oxygen. He spent three weeks in the neonatal intensive care unit (NICU). At this time … read more

hypotonia, seizures

After the patient was born, he had trouble breathing and was admitted to the NICU.  He also had an abnormal neck position (torticollis) and difficulty eating (failure to thrive). At 6 months, he was not meeting his developmental milestones. In particular, his motor skills were behind. When the patient was … read more

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Undiagnosed Diseases Network on Facebook

Our participant pages archive has a new look! Browse photos and descriptions of 10 patients at a time or use the search box in the top right to search by symptom or gene name.

undiagnosed.hms.harvard.edu/participants/
... See MoreSee Less

Our participant pages archive has a new look! Browse photos and descriptions of 10 patients at a time or use the search box in the top right to search by symptom or gene name.

https://undiagnosed.hms.harvard.edu/participants/

Did you know the UDN consists of nearly 400 researchers from 13 institutions across the United States? Over the last 2 years, our work has been featured on national and local news, Reddit, and various podcasts. Catch up here: undiagnosed.hms.harvard.edu/news/press_page/ ... See MoreSee Less

Did you know the UDN consists of nearly 400 researchers from 13 institutions across the United States? Over the last 2 years, our work has been featured on national and local news, Reddit, and various podcasts. Catch up here: https://undiagnosed.hms.harvard.edu/news/press_page/

Dr. William Gahl, one of the founders and principal investigators of the UDN, recently stopped by Mayo Clinic Radio to discuss his work on rare and undiagnosed diseases, as well as the positive impact of social media and collaboration on rare disease research. Check out the full video below.Dr. William Gahl, Clinical Director of the National Human Genome Research Institute at the National Institues of Health, discusses the Rare and Undiagnosed D... ... See MoreSee Less

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Comment on Facebook

Go Bill!!!!!!

Can't wait until I have a Diagnosis . I am soooo ready for a diagnosis . 😁😁😁😁

By his stripes Rachel you are healed!!!