If any of these participants sound like you or someone you know, please contact us!Contact Us
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.
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
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
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 Twitter
Official Twitter account of the Undiagnosed Diseases Network. Solving medical mysteries through team science. Tweets by Coordinating Center team @HarvardDBMI.
Congrats @julawang @mfwangler @ZhandongLiu & co on making it into the best of issue for their work on @ UDN MOSC! https://t.co/e1Qqxu7Yww
It's here--this year's Best of AJHG! You have a copy in your #ASHG17 bag & it's also available online: https://t.co/VzS06jP3gS
Up next in #ASHG17 featured plenary session II: @mfwangler of @bcmhouston will discuss the work of the UDN Model Organism Screening Center
Congratulations to John Mulvihill on his ASHG Mentorship Award! Feeling very proud & thankful for his insights in the UDN #ASHG17
Don't miss the Undiagnosed Diseases Network #ModelOrganisms Screening Center talk today during plenary session 87 #ASHG17 @UDNconnect
Data sharing isn’t just a buzzword- it’s our duty & responsibility to the families that come to us looking for answers. Great video! #ASHG17
One family shares their story of the impact genomic #DataSharing has had on their lives #GA4GH2017 @MatchMExchange https://t.co/5GPDRLk4nt
.@MatchMExchange status: >50K patients from >3K contributors across 65 countries #ASHG17 #datasharing
Don’t want to walk around looking at your phone? Stop by @genome_gov & @NIH_CommonFund booths to grab a printed list of UDN talks #ASHG17
3 UDN posters coming up this afternoon featuring work from the Vanderbilt, Stanford & Baylor UDN clinical sites #ASHG17
Members of the Stanford UDN site representing during the Wednesday poster session @ #ASHG17 https://t.co/9fbCSgeiay @MWheelerMD @euanashley
LIVE NOW- Here’s a link to see a Facebook Live with @BillGates & @NIHDirector at #ASHG17 on global health & genomics
"The era of sitting on your own dataset and mining and re-mining it is over," --@NIHDirector at #ashg17 #genomics #bigdata
Taro Ten of @genome_gov (home to our NIH UDP clinical site) sharing his work using WGS data to reproduce SNP array results at poster 1378
Undiagnosed Diseases Network on Facebook
3 weeks ago
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
Undiagnosed Diseases Network - UDN added 3 new photos.
1 month ago
And we're back! This was our second year exhibiting at the National Society of Genetic Counselors Annual Conference and it did not disappoint. We met dozens of genetic counselors that had never heard of the UDN and were excited to share information about the UDN with their patients. Several genetic counselors with patients enrolled in the UDN also stopped by say hi and pick up information to bring back for their colleagues. We even got to hear one of the principal investigators for the UDN clinical site at UCLA Health, Christina Palmer, talk about her career in genetic counseling research. Overall it was a great experience and we look forward to attending future meetings. ... See MoreSee Less