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
The patient was meeting his developmental milestones until age 2.5 when he started losing skills. He was previously able to walk, but now has trouble sitting and holding his head upright. He has lost his fine motor skills and keeps his hands in a fist position. His parents report that … 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.
Thank you for having us #NSGC17! We love sharing our work w/ GCs that haven't heard of us & reconnecting with those that have. See you soon!
No such patients right now, but will def keep in mind. Adding #GCchat @GenomeConnect @MyGene2 @mattmight in case they can help. Good luck!
We are looking for patients with biallelic #ATOH1 variants. Please contact me if you have such cases! @UDNconnect @GeneMatcher @RareConnect
Feeling very privileged to hear @sharonfterry @J9_Austin & beloved UDN PI Christina Palmer discuss their research careers here at #NSGC17!
With no scientific training, @sharonfterry worked night shifts at a lab to find the gene causing her kids' disease. https://t.co/kcpJVy2Urk
Also visit @ncats_nih_gov GARD booth to hear about their work & grab hard copies of “Tips for the undiagnosed" for your patients! #NSGC17
Hi #NSGC17! Once you finish up at the posters, stop by booth 526 to chat w/ UDN GCs & learn how we can help your diagnostic odyssey patients
Is it just us or is #NSGC17 going by way too fast?! Stop by our booth if you haven't -- or have and want more stickies/pens!
Also great hashtags to follow for GC interactions include #GCchat, #NSGCgenepool, too! :) #NSGC17
Incoming @GeneticCouns president @ERamosSD reminding us of the amazing #IAmAGeneticCounselor tweets from last year! #allthefeels #NSGC17
Beaming with pride over UDN PI Christina Palmer being named the next editor-in-chief of the Journal of Genetic Counseling!!! 💙💙💙 #NSGC17
Kicking off day 2 with an exciting announcement- Jane Engelberg Memorial Fellowship permanently endowed to support GC research! #NSGC17
Couldn't have asked for a better day 1 at #NSGC17. Be sure to come by our booth tomorrow (526) to chat w/ GCs from our NIH & UCLA sites!
Jill Viles sharing her road to an accurate diagnosis at #NSGC17. Hear her story & ways to enable patient matching
Something Only I Can See
A woman with muscular dystrophy tries to convince doctors that she has the same gene mutation as an Olympic athlete.
Hello #NSGC17! We are so excited to be here. We'll be tweeting session highlights & hanging around the exhibit hall all week - come find us!
Safe travels to everyone heading to Columbus for #NSGC17 today. Looking forward to seeing you all tomorrow!
New UDN participant page: 4yo boy w/ an undiagnosed metabolic disorder, Hx infantile spasms, MGA & TRA2B variants
Undiagnosed metabolic disorder- MGA & TRA2B (UDN Participant 035)
Male, age 4 w/ undiagnosed metabolic disorder. Researchers are investigating changes in the MGA & TRA2B genes to see if they're causing his s...
Undiagnosed Diseases Network on Facebook
Undiagnosed Diseases Network - UDN added 3 new photos.
1 day 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
1 month ago
We are delighted to share the first issue of the UDN Participant Engagement and Empowerment Resource (PEER) newsletter! The PEER, founded in January 2017, is made up of participants and family members who have participated in the UDN.
This issue includes "Our Life with Quinn" by PEER member Jamie Mills and highlights research being done at the UDN Model Organisms Screening Center.
To view or download the newsletter, go to undiagnosed.hms.harvard.edu/peer/ ... See MoreSee Less
Awesome read - so proud of all 4 of you and the support network you have built!
Only thing missing from this pic is the man of the hour, Quinn!