When the patient was in his early 20s, he started having episodes that involved shaking, vacant staring, and “shutting down” where he could not respond with any words other than “yes,” even when he wanted to say no. These episodes would last about an hour. Afterwards he would be very ... read more
As an infant, the patient had low muscle tone (hypotonia) and was not meeting developmental milestones. She started wearing hearing aids at the age of 17 months due to hearing loss (sensorineural) and was diagnosed with cataracts at 2 years old. She had one seizure at 6 years old, but ... read more
The patient was born with heart defects (atrial septal defect, ventricular septal defect) and a cleft palate. Shortly after birth, he was noticed to have different facial features, including a triangular face, eye folds (epicanthal folds), decreased creases on his hands and feet, and three bones in his thumbs instead ... read more
Undiagnosed Diseases Network on Twitter
Does this patient sound like someone you know? #undiagnosed #RareDisease
Undiagnosed Diseases Network (UDN)- Participant 018
Undiagnosed female, age 22 with a progressive neuromuscular condition. Looking for similar patients!
undiagnosed.hms.harvard.edu
A Little Girl Walks Into a Clinic...A Newly Identified Genetic Disorder (via @NeurologyToday) #EBF3 #RareDisease
We’re looking for others with Triple A syndrome but no change in the AAAS gene #achalasia #Addisondisease #alacrima
Undiagnosed Diseases Network (UDN)- Participant 007
Male, age 35 with triple A syndrome (achalasia, Addison disease, and alacrima) of unknown cause. Looking for similar patients!
undiagnosed.hms.harvard.edu
“Just getting an answer provides a degree of peace that you can’t imagine if you’ve not been there”
Learn how research & collaboration at our @Duke_Childrens site provided answers & hope for two families #RareDisease https://t.co/ZPmosc9hPe
Perlara (@PerlaraPBC) founder @eperlste shares how he got into #RareDisease: attended #RDDNIH, interacted w/ families on Twitter #pm17hms
Always a treat to get updates on @bertrandmigh @ngly1org from @mattmight - sharing history & early work of his company Pairnomix at #pm17hms
Pam Gavin of @RareDiseases kicking off Panel 1: Early Disruptors in Precision Medicine #pm17hms
SP: patients should have access to their WES, WGS, RNAseq data - especially in cancer where stakes are high, samples are limited #pm17hms
Keynote speaker Dr. Shirley Pepke sharing how she approached her ovarian cancer diagnosis as a data problem to be solved #pm17hms
Live stream of #PM17HMS at https://t.co/UE3X1QAQyH
#precisionmedbiz
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Excited to be at @harvardmed’s 2017 Precision Medicine Conference today! We’ll be tweeting session highlights - follow the convo at #pm17hms
Does this patient sound like someone you know? #RareDisease #undiagnosed
Undiagnosed Diseases Network (UDN)- Participant 006
Undiagnosed male, age 3 with low muscle tone (hypotonia), developmental delay, and increased weight. Looking for similar patients!
undiagnosed.hms.harvard.edu
A Couple's Quest To Stop A Rare Disease Before It Takes One Of Them (via @NPR) #RareDisease @prionalliance @cureffi
A Couple's Quest To Stop A Rare Disease Before It Takes One Of Them
Twenty years. That's how long two grad students, Sonia Vallabh and Eric Minikel, think they have before a deadly disease envelops Sonia's brain. The M...
www.npr.org
Looking forward to hearing from UDN PI @zakkohane, @mattmight, @RareDiseases & others at #pm17hms this week https://t.co/z89bZjVtL4
Undiagnosed Diseases Network on Facebook
“We cried a little, we laughed a little. I showed them the data. The message was, because we have an answer, I could tell them there are other people with this, and they're up to 16 years old. Before then it was a black box."
In this article by Neurology Today, UDN investigator Hsiao-Tuan Chao discusses the remarkable pace of genetic discovery and shares her experiences providing answers and hope for patients with undiagnosed conditions.
journals.lww.com/neurotodayonline/Fulltext/2017/06220/In_the_Clinic__Hsiao_Tuan_Chao,_MD,_PhD___A...
Did you know we are creating detailed patient profiles on our website to try and connect patients with similar conditions? 25 profiles have been posted so far with more being added each week. If this little boy sounds like someone you know, please contact us.
undiagnosed.hms.harvard.edu/participants/participant-006/
Undiagnosed Diseases Network (UDN)- Participant 006
undiagnosed.hms.harvard.edu
Undiagnosed male, age 3 with low muscle tone (hypotonia), developmental delay, and increased weight. Looking for similar patients!Very heartbreaking. I read his symptoms hoping he gets a diagnosis soon. His facial features are similar to downs syndrome.
Last year, the UDN team at Duke Children's evaluated a young boy with unexplained symptoms that had puzzled his doctors for years. The team chose to pursue exome sequencing to try and find a genetic cause for the patient's symptoms. Working together with the UDN sequencing core at Baylor College of Medicine, the team found a genetic change in the ASXL2 gene, which had never been linked to a human disease before. Through collaborations with other doctors in the US and Europe, five additional patients with genetic changes in ASXL2 were identified. Learn more about the discovery of this new genetic condition at the link below.
pediatrics.duke.edu/news/network-and-gene-tools-help-quickly-identify-new-rare-genetic-disease
Network and gene tools help quickly identify new, rare genetic disease
pediatrics.duke.edu
The first patient was a mystery.Wish you would have added his symptoms to the article..
Long chain fatty acids been check ? Metabolic panel ?
Did you know the UDN application process is patient driven? Patients can apply to participate in the UDN through an online portal called the UDN Gateway. Read more about the UDN application process on our website at the link below.
undiagnosed.hms.harvard.edu/apply/application-faqs/
undiagnosed.hms.harvard.edu
Before applying to the UDN, it is important to discuss the study with a healthcare provider.On March 3, 2017, in honor of Rare Disease Day, experts from the UDN answered questions from the Reddit community as part of an "Ask Me Anything" (AMA). The questions ranged from "What is an example of one of the more elusive diseases you've diagnosed?" to "Where do you strike the balance between seeking out an etiology for a potentially rare disease and over-testing?" - check out the full recap at the link below.
www.genome.gov/27568204/2017-news-feature-reddit-ask-me-anything-recap-the-undiagnosed-diseases-n...
genome.gov
, UDN uses genome sequencing in the clinic, along with a network of experts, to provide answers for patients and families affected by mysterious conditions.Learn about a UDN participant found to have a de novo heterozygous variant in the GNAO1 gene: undiagnosed.hms.harvard.edu/participants/participant-025/
Undiagnosed Diseases Network (UDN)- Participant 025 (GNAO1)
undiagnosed.hms.harvard.edu
Female, age 15 with weakness and stiffness in her limbs (spastic paraparesis), dystonia, and slurred speech caused by a change in the GNAO1 gene.New UDN participant page: undiagnosed 2 year old with developmental delay, seizures, cortical visual impairment, premature thelarche, microcephaly and other symptoms
undiagnosed.hms.harvard.edu/participants/participant-024/
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!Today is #GlobalRunningDay! All over the world, adults and children alike are running to get out, get fit, and raise money for their chosen nonprofit organizations.
Did you know that NORD has a charity marathon team? It’s called Running for Rare, and it pairs runners with patients in an effort to raise awareness for rare disorders and raise money for patients and their families who are impacted by rare disease.
Athletes who participate in the #Running4Rare program train for races and marathons nationally and in their local communities, develop personal connections to members of the rare disease community, attend social, athletic, and fundraising events as advocates, and have fun being part of a team.
Interested? You can find more information and/or sign up for upcoming marathons at rarediseases.org/runningteam
The Bigelow's are searching for others with genetic mutations in the USP7 gene. Please take 3 minutes out of your morning to watch this video and share with others that may be able to help. Learn more about their journey at bit.ly/TessArmy.
Bo Bigelow, Author
Hey there, Tess Army! Here's a short 3-minute film that I've been working on since last October. The goal: tell Tess's story and find more patients. Please share. #USP7
New UDN participant page: 24 year old woman with poor muscle coordination (ataxia), blurred vision (cataracts), intellectual disability, sensorineural hearing loss, and small, discolored, and easily damaged teeth (amelogenesis imperfecta)
undiagnosed.hms.harvard.edu/participants/participant-023/
undiagnosed.hms.harvard.edu
Female, age 24 with poor muscle coordination, cataracts, intellectual disability, hearing loss, and abnormal teeth. Looking for similar patients!On this Global Running Day, we applaud the achievements and dedication of the Running for Rare team members! They are a special group and we look forward to cheering them on at future events.Today is #GlobalRunningDay! On this day, we recognize the amazing people who have joined our team to run on behalf of the #raredisease community in support of the National Organization for Rare Disorders, Inc. (NORD). We look forward to continuing on this journey together to continue making an impact for the 1 in 10 Americans living with a rare disease. #Running4Rare
Today we want to share a story about a diagnosis made in the early days of the UDN. Back in 2015, the UDN team at Baylor College of Medicine evaluated a patient who had developed as a male but had female chromosomes. The team decided to pursue whole genome sequencing to try and find out why this happened. The patient was found to have a change in the NR5A1 gene. As it turns out, this gene was being studied by member of the UDN team at UCLA Health. UDN researchers at Baylor and UCLA combined information about their similar patients with another research group in France to learn more about the impact of this gene on development. This collaboration succeeded in providing answers for patients and increased our knowledge of how the human body develops. The group published their findings in Human Molecular Genetics so others can learn more about this gene.
academic.oup.com/hmg/article-lookup/doi/10.1093/hmg/ddw186
academic.oup.com
We wanted to take a moment to thank everyone that has "Liked" our Facebook page. Whether you've been here since day 1 or recently connected with us, THANK YOU!
If you are just learning about the UDN, check out our website at the link below. It has two sets of FAQs, an informational video, and more to bring you up to speed on our work!
undiagnosed.hms.harvard.edu/
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