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
Undiagnosed Diseases Network on Twitter
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.
goo.gl
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.hms.harvard.edu
Undiagnosed Diseases Network on Facebook
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.
We're taking a break from Facebook for the rest of the week to attend the National Society of Genetic Counselors Annual Conference in Columbus, Ohio. Follow us on Twitter @UDNconnect for highlights and check out the conference hashtag, #NSGC17!
twitter.com
The latest Tweets from UDN (@UDNconnect). Official Twitter account of the Undiagnosed Diseases Network (UDN). Solving medical mysteries through team science. Tweets by Coordinating Center @HarvardDBMI...The latest UDN participant page (#035) describes a 4 year old boy with an undiagnosed metabolic disorder. He has a history of infantile spasms, developmental delay, and difficultly speaking. His eyes turn outward (called exotropia), his feet are flat (called pes planus), and he has a curved pinky finger (called clinodactyly of the 5th finger). UDN researchers are investigating genetic changes in his MGA and TRA2B genes to see if they are contributing to his symptoms. If this patient sounds like you or someone you know, please contact us.
Undiagnosed metabolic disorder- MGA & TRA2B (UDN Participant 035)
undiagnosed.hms.harvard.edu
Male, age 4 w/ undiagnosed metabolic disorder. Researchers are investigating changes in the MGA & TRA2B genes to see if they're causing his symptoms.So cute and happy. Good luck!!
New review paper led by UDN researchers at Baylor College of Medicine covers the past, present, and future of model organism studies for rare disease diagnosis and treatment (via GSA - Genetics Society of America)
Model Organisms Facilitate Rare Disease Diagnosis and Therapeutic Research
genetics.org
Efforts to identify the genetic underpinnings of rare undiagnosed diseases increasingly involve the use of next-generation sequencing and comparative genomic hybridization methods. These efforts are l...The latest UDN Participant Page (#034) describes a 26 year old woman with an undiagnosed condition involving severe episodes of muscle weakness, pain, nausea, dizziness, paralysis, feeling cold, slow heart rate, and low blood oxygen levels. Click the photo below to learn more.
Undiagnosed Diseases Network (UDN)- Participant 034
undiagnosed.hms.harvard.edu
Female, age 26 w/ weakness and pain, fatigue, exercise intolerance, & severe episodes of weakness, dizziness, & paralysis. Looking for similar patients!Has patient been evaluated for Mast Cell Activation Syndrome /mastocytosis?
Hey Sessha, does this sound like you?
Traci my kiddos and myself have EDS/Chiari/POTS/Mast cell and everything and anything in between. She was actually hospitalized for her gastroparesis in which they found lesions covering her brain. Then came the genetic testing that revealed chromosome 17p13.3 micro deletion. She is enrolled in the UDN for this deletion and we all got the EDS diagnosis during this time (not from the UDN) however her deletion is known to cause hyper mobility. I just have a strong feeling there is a link with her deletion and EDS
Does this patient sound like someone you know?
Undiagnosed Diseases Network (UDN)- Participant 024
undiagnosed.hms.harvard.edu
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 the clinical course of a 16 year old female patient with unexplained progressive muscle weakness. Genetic testing revealed changes in the MYH7 and TOR1AIP1 genes. UDN clinicians and researchers are investigating these changes to see if they are causing the patient’s symptoms. Click the photo below to learn more. Please contact us if you know someone with similar symptoms.
Undiagnosed Diseases Network (UDN)- Participant 033 (MYH7 & TOR1AIP1)
undiagnosed.hms.harvard.edu
Female, age 16 w/ progressive muscle weakness. Researchers are investigating changes in the MYH7 & TOR1AIP1 genes to see if they're causing her symptoms.New UDN participant page: 6 year old boy with developmental regression, hypotonia, difficulty controlling voluntary movements (limb and truncal ataxia), and lack of coordination. A change in the IRF2BPL gene was identified by genetic testing. Research is underway to see if this change is causing symptoms in this patient. Click the photo below to learn more.
Undiagnosed Diseases Network (UDN)- Participant 031 (IRF2BPL)
undiagnosed.hms.harvard.edu
Male, age 6 w/ regression, hypotonia, & ataxia. Researchers are investigating a change in the IRF2BPL gene to see if it's causing his symptoms.We recently evaluated male siblings with unexplained symptoms including developmental delay, coordination problems (ataxia), low muscle tone (hypotonia), abnormal MRI findings, and overlapping toes. The older sibling also has dystonia. The younger sibling also has droopy eyes (ptosis), a birthmark (nevus), an abnormal crease on the palm of his hand (bridged palmar crease), food and environmental allergies/sensitivities, and constipation.
UDN clinicians and researchers are currently investigating genetic changes in the MT-TL2 and ZDHHC9 genes to see if they are causing these symptoms. Click the photos below to learn more.
Undiagnosed Diseases Network (UDN)- Participant 032 (MT-TL2 & ZDHHC9)
undiagnosed.hms.harvard.edu
Undiagnosed Diseases Network (UDN)- Participant 023
undiagnosed.hms.harvard.edu
Undiagnosed female, 24, with poor muscle coordination, cataracts, intellectual disability, hearing loss, and abnormal teeth. Looking for similar patients!Our family has an ifih1 mutation. Newer studies are showing that aicardi goutieres syndrome 7 and singleton Merten syndrome are in fact a spectrum rather than separate diseases. We are not yet sure of our mutation's significance, but so many of these symptoms sound familiar. All 3 of our family members (1 adult and 2 of my children) also run fevers of unknown cause, which I don't see listed here. Just wanted to share just in case due to the neuro, heart, and dental overlap.
My daughter has a smarka a 2 deleition and was diagnosed with Nikolaidis barister syndrome has hearing loss kidney reflux deformed ear and developmental delays obstructive and central sleep apnea
New research from the UDN site at Baylor College of Medicine on de novo missense variants in the CDK13 gene
genomemedicine.biomedcentral.com
De novo missense variants in CDK13 have been described as the cause of syndromic congenital heart defects in seven individuals ascertained from a large congenital cardiovascular malformations cohort. ...
Undiagnosed Diseases Network (UDN)- Participant 021
undiagnosed.hms.harvard.edu
Undiagnosed male, age 28 with a neurodegenerative condition involving weakness, seizures, tremors, & slurred speech. Looking for similar patients!We just posted a new participant page! Participant 029 is a little boy with a history of development delay, seizures, and abnormal MRI findings. Click the photo below to learn more.
Undiagnosed Diseases Network (UDN)- Participant 029
undiagnosed.hms.harvard.edu
Male, age 4 w/ infantile spasms, abnormal MRI findings (delayed myelination, thin corpus callosum), & developmental delay. Looking for similar patients!DNM1 Encephapopathy or similar perhaps
There is still time to register for the 2017 Global Genes RARE Patient Advocacy Summit this September in Irvine, CA. The summit will bring together hundreds of rare disease stakeholders, including several UDN researchers, for two days of education, support, growth, and advocacy. Click on the photo below to learn more.
2017 RARE Patient Advocacy Summit
globalgenes.cvent.com
Register for the 2017 RARE Patient Advocacy Summit! As always, Global Genes has worked w/ the Rare Disease Community to put together new & relevant subject matter. Register now to join hundreds of oth...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/
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!
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