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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

GNAS SEPSECS TRA2B MGA MYH7 TOR1AIP1

Meet Our Participants


MT-TL2 ZDHHC9

At 6 months, the patient was not sitting or rolling and was found to have low muscle tone (hypotonia). Over time, his hypotonia has become more noticeable and currently he is unable to stand or walk. He has also developed involuntary muscle contractions (dystonia) and problems with coordination (ataxia). The … read more

progressive muscle weakness

At the age of 8, the patient started having difficulty climbing at school. She was unable to pull herself onto a horse or get into the car. She also walked differently than other children due to a waddling walk and would run as if she had “lead in her shoes”. … 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

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!!!

And we're back! The American Society of Human Genetics meeting went well. More than 30 UDN researchers from across the country were in attendance and the UDN talks went off without a hitch. It is always exciting to come together to share our work with the genetics community. We also had the privilege of seeing UDN researcher Dr. John Mulvihill receive the ASHG Mentorship Award on Friday - you can catch a glimpse of his speech towards the end of this highlight video! ... See MoreSee Less

We’re looking for other patients with Triple A syndrome but no change in the AAAS gene. For details, visit UDN Participant Page 007: undiagnosed.hms.harvard.edu/participants/participant-007/ ... See MoreSee Less