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 10 months of age, the participant was found to have low muscle tone (hypotonia) and developmental delay. He said his first words at 9 months and has added vocabulary slowly over the years. According to his speech therapist, he has a diagnosis of dysarthria. He began walking at 28 … 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
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.
Fantastic to see our paper out in @JPediatr! Learn about @UDNconnect and #raredisease through our patient w/ FOXG1 syndrome. @MWheelerMD @euanashley @Foxg1Research https://t.co/es7Jzw1SMo
Now online @JPediatr: A New Approach to Rare Diseases of Children: The Undiagnosed Diseases Network #RareDisease
#FlashbackFriday to #ACMGMtg17 in Phoenix, AZ! Is it too early to start counting down to #ACMGMtg18 in Charlotte, NC?
Looking for similar patients: male siblings w/ ataxia, hypotonia, abn MRI & VUS in MT-TL2 & ZDHHC9 #RareDisease
Undiagnosed Diseases Network (UDN)- Participant 032 (MT-TL2 & ZDHHC9)
Male, age 5 w/ delay & abnormal MRI findings. Researchers are investigating changes in the MT-TL2 & ZDHHC9 genes to see if they're causin...
Looking for similar patients: undiagnosed 2 year old w/ seizures, vision loss, microcephaly #RareDisease
Undiagnosed Diseases Network (UDN)- Participant 024
Undiagnosed female, age 2 with developmental delay, seizures, cortical visual impairment, and a small head size. Looking for similar patients!
New UDN Participant Page describes an undiagnosed child w/ dev delay, ataxia, autistic behaviors & dysmorphic features #RareDisease
Undiagnosed Diseases Network (UDN)- Participant 045
Male, age 4 w/ developmental delay, ataxia, autistic behaviors, and different facial features. Looking for similar patients!
Research from @DukeHealth UDN clinical site on psychosocial profiles of parents of children w/ undiagnosed diseases now online in the Journal of Genetic Counseling: #GCchat
Psychosocial Profiles of Parents of Children with Undiagnosed Diseases
Little is known about the psychosocial profiles of parents who have a child with an undiagnosed chronic illness. The National Institutes of Health Und...
New “Pathways Service" at Massachusetts General Hospital aims to train residents in patient-driven scientific inquiry, create linkages between unexplained patient presentations & basic scientists (via @nejm)
Get to know the phenotype of Shashi-Pena Syndrome, a recently described genetic condition involving the #ASXL2 gene: #RareDisease #GCchat
Undiagnosed Diseases Network (UDN)- Participant 005 (ASXL2)
Male, age 8 with macrosomia, a glabellar hemangioma, and learning difficulties caused by a change in the ASXL2 gene (Shashi-Pena syndrome).
UDN PIs Eric Vilain & Stan Nelson share insights on structural variant detection (via @GenomeWeb) #RareDisease
Technology Improvements Help Elucidate Previously Indecipherable Structural Variants | GenomeWeb
As long-read sequencing and genome mapping technologies improve, researchers have begun using them in the clinic to identify once undetectable structu...
Looking for similar patients: 49yo female w/ muscle weakness & twitching, 2nd degree AV block, hyperkalemia & seizures #RareDisease
Undiagnosed Diseases Network (UDN)- Participant 013
Undiagnosed female, 49, w/ fasciculations, balance problems, weakness, 2nd-degree AV block, lung disease, & seizures. Looking for similar patients...
@CNN spotlights how @UDNconnect found a diagnosis for @TexasChildrens patient with an unknown condition:
Mystery condition gives way to bright future for 10-year-old
Avery wasn't developing or moving the way other kids her age were. The Undiagnosed Diseases Network helped find the reason why.
Happy new year & thank you for following #UDN12days. We applaud the efforts of rare disease stakeholders around the world in 2017 & look forward to more discoveries & collaborations in 2018.
Are you or a family member #undiagnosed? See the undiagnosed diseases community on @RareConnect and speak to similar people around the world:
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