When the patient was 20 months old, her mother noticed that she was large for her age. Since then, her height and weight have continued to increase despite regular physical activity and a healthy diet (overgrowth). At age 8, she started to have signs of increased androgen secretion (premature adrenarche) … read more
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
Undiagnosed Diseases Network on Twitter
Help us find other patients! Give this a retweet. #USP7 #RareDisease https://t.co/7ieZLuc4b8
Does this patient sound like someone you know? #RareDisease @genome_gov @RareDiseases @GlobalGenes
Undiagnosed Diseases Network (UDN)- Participant 011
Undiagnosed male, 55, w/ wheezing, sinus infections, nasal polyps, fatigue, ascending aortic root aneurysm, & neuropathy. Looking for similar pati...
undiagnosed.hms.harvard.edu
Baylor College of Medicine and @TexasChildrens are working together as 1 of 7 clinical sites in @UDNconnect.
These Houston Doctors Seek to Diagnose the Previously Un-Diagnosable
A network of Houston hospitals forms one of the world's seven clinical sites in the international Undiagnosed Diseases Network.
bit.ly
#ThrowbackThursday to our Steering Committee meeting at @UCLAHealth earlier this year. Excited to reunite in DC next week! #teamscience
Looking for similar cases: 26yo woman w/ #atopicdermatitis, #eczema & #lymphadenopathy #RareDisease @genome_gov
Undiagnosed Diseases Network (UDN)- Participant 017
Undiagnosed female, 26, with atopic dermatitis, hyper-active immune system, asthma, high IgE levels, & swollen lymph nodes. Looking for similar pa...
undiagnosed.hms.harvard.edu
These Houston Doctors Seek to Diagnose the Previously Un-Diagnosable (via @HoustoniaMag) #RareDisease #teamscience
These Houston Doctors Seek to Diagnose the Previously Un-Diagnosable
A network of Houston hospitals forms one of the world's seven clinical sites in the international Undiagnosed Diseases Network.
www.houstoniamag.com
.@HoustoniaMag @AliceEats shares stories of rare #genetic cases from the @UDNconnect at @bcmhouston, @TexasChildrens
These Houston Doctors Seek to Diagnose the Previously Un-Diagnosable
A network of Houston hospitals forms one of the world's seven clinical sites in the international Undiagnosed Diseases Network.
ow.ly
Looking for info about rare genetic diseases? Check out the @ncats_nih_gov Genetic and Rare Diseases Info Ctr (GARD)
ICYMI: Stalking the ‘Unknown Enemy’: Doctors Turn Scope On Rare Diseases #RareDisease #GCchat (via @KHNews)
Stalking the ‘Unknown Enemy’: Doctors Turn Scope On Rare Diseases
An NIH-funded network of hospitals uses advanced genetic science and nationwide collaboration to diagnose rare and sometimes undiscovered diseases.
khn.org
If you know someone that's sick but is still #undiagnosed, tell him/her to contact Undiagnosed Diseases Network @… https://t.co/jLHXzFC5Qt
New UDN participant page: 14yo girl w/ overgrowth, macrocephaly, premature adrenarche & menorrhagia #RareDisease
Undiagnosed Diseases Network (UDN)- Participant 026
Undiagnosed female, age 14 w/ overgrowth, increased androgren secretion, & menstrual periods w/ heavy & prolonged bleeding. Looking for simila...
undiagnosed.hms.harvard.edu
Very proud to work with John & lucky to have him as part of the UDN. One of the most engaged & engaging clinicians we have ever met!
Congrats to John Mulvihill, MD, recipient of ASHG's 2017 Mentorship Award! https://t.co/aJyDrjf7SM #genetics #ASHG17
Check out our new model organisms research page to learn how the UDN uses fly & fish models to study human disease https://t.co/ndUbMxcFGN
That was fun - thanks for hosting @RareDiseases & @childrenshealth! #genetest101
A8: NCATS (@ncats_nih_gov) Genetic and Rare Diseases Information Center (GARD) #genetest101
Undiagnosed Diseases Network on Facebook
We love a lot of things about our updated website, but the search box may be our favorite part! Looking for a specific condition, gene, or symptom? Try typing it into the search box in the upper right hand corner to see if we have a matching participant page, gene page, or publication.
undiagnosed.hms.harvard.edu
undiagnosed.hms.harvard.edu
We recently evaluated a 26 year old woman with itchy skin inflammation (atopic dermatitis), a hyper-active immune system, asthma, very high immunoglobulin E (IgE) levels, and swollen lymph nodes (lymphadenopathy). We are looking for similar patients. Please contact us if you or someone you know has similar symptoms.
undiagnosed.hms.harvard.edu
"Of course, Lee’s team made diagnoses frequently before joining together in the UDN. How is what they’re doing here different? Though they’ve always been engaged in gene discovery, the network’s funding provides resources for clinicians to dig deeper and even perform research on each patient."
Learn how the UDN sites at Baylor College of Medicine are working together to provide answers for even more patients and families in this feature by Houstonia Magazine.
These Houston Doctors Seek to Diagnose the Previously Un-Diagnosable
houstoniamag.com
A network of Houston hospitals forms one of the world's seven clinical sites in the international Undiagnosed Diseases Network.Kaiser Health News recently wrote a story about Andrew Whittaker, a patient seen by the UDN team at UCLA Health. Andrew was a healthy, athletic young adult when he started losing his balance and suffering from episodes during which he would start trembling and be unable to speak. Although Andrew’s UDN visit is complete, the UCLA team continues to analyze his genetic information and test results in hopes of putting an end to his diagnostic odyssey.
You can read the Kaiser story here: khn.org/news/stalking-the-unknown-enemy-doctors-turn-scope-on-rare-diseases/
To learn more about Andrew’s symptoms, please visit his UDN Participant Page: undiagnosed.hms.harvard.edu/participants/participant-021/
Stalking the ‘Unknown Enemy’: Doctors Turn Scope On Rare Diseases
khn.org
An NIH-funded network of hospitals uses advanced genetic science and nationwide collaboration to diagnose rare and sometimes undiscovered diseases.We just posted a new UDN participant page! Please visit the link below and contact us by email at UDN@hms.harvard.edu if you know a similar patient.
undiagnosed.hms.harvard.edu/participants/participant-026/
Undiagnosed Diseases Network (UDN)- Participant 026
undiagnosed.hms.harvard.edu
Undiagnosed female, age 14 w/ overgrowth, increased androgren secretion, & menstrual periods w/ heavy & prolonged bleeding. Looking for similar patients!"Clinical research experience, including access to DNA sequencing as part of the Undiagnosed Diseases Network, is integral to our program”
Visit the link below to learn about the new genetic counseling training program at Baylor College of Medicine. This program will led by the doctors, researchers, and genetic counselors that run the Baylor UDN Clinical Site, Sequencing Core, and Model Organism Screening Center.
www.bcm.edu/education/schools/school-of-allied-health-sciences/programs/genetic-counseling-program
Learn about the history of the MARRVEL variant prioritization tool (marrvel.org) and how it is used in the UDN in this interview on the ASHG - American Society of Human Genetics blog.
Inside AJHG: A Chat with Hugo Bellen and Julia Wang
blog.ashg.org
Inside AJHG: This month, we check in with Hugo Bellen and Julia Wang, developers of a resource to integrate model organism findings with human genetics.We recently evaluated a little boy with an undiagnosed neuromuscular condition & are looking for similar patients - learn more at the link below.
undiagnosed.hms.harvard.edu/participants/participant-010/
undiagnosed.hms.harvard.edu
Undiagnosed male, age 7 with a complex neuromuscular condition.Did you know we're posting patient profiles on our website to try and connect patients with similar medical conditions? Please check out the link below and contact us if you or someone you know has similar symptoms.
undiagnosed.hms.harvard.edu/participants/participant-008/
undiagnosed.hms.harvard.edu
Undiagnosed male, 13, with developmental delay, autism, severe nearsightedness, & a history of heart defects & cleft palate.Does this patient sound like someone you know?
undiagnosed.hms.harvard.edu/participants/participant-014/
undiagnosed.hms.harvard.edu
Undiagnosed female, 20, with hearing loss, frequent fevers, itching, gastroparesis, recurrent infections, & reduced sweating.Yep. That's me!
"Facebook is where patients with rare conditions, and their families, often go to connect with others in similar situations" - David Shaywitz, MD, PhD
www.forbes.com/sites/davidshaywitz/2017/07/02/the-best-positioned-tech-giant-in-healthcare-the-an...
The Best-Positioned Tech Giant In Healthcare? The Answer Might Surprise You.
forbes.com
The tech giant you hear about the least in the context of healthcare – Facebook – may actually be the company influencing healthcare the most, and may also be the best positioned to support the pa...In this article by Front Line Genomics, learn how UDN principal investigator Euan Ashley and colleagues solved a tough case by using long-read sequencing, a new DNA sequencing technology that lets researchers study long strands of DNA.
www.frontlinegenomics.com/press-release/12854/long-read-sequencing-illuminates-inaccessible-parts...
Long-Read DNA Sequencing Solves Diagnostic Mystery for the First Time
frontlinegenomics.com
Next-generation technology, called long-read sequencing used to diagnose a patient's rare genetic condition that current technology failed to diagnoseAlan
Amyloidosis is another challenging diagnosis. My husband went 18 months and 10 specialists in all areas of medicine and he died of it 10 months after diagnosis.
undiagnosed.hms.harvard.edu/participants/participant-015/
undiagnosed.hms.harvard.edu
Undiagnosed female, 14, w/ autism, self-injurious behaviors, seizures, muscle weakness, large head size, & astrocytoma. Looking for similar patients!Did you know we're posting patient profiles on our website to try and connect patients with similar medical conditions? Please visit the link below to view participant 018 and contact us if you or someone you know has similar symptoms.
undiagnosed.hms.harvard.edu/participants/participant-018/
undiagnosed.hms.harvard.edu
Undiagnosed female, age 22 with a progressive neuromuscular condition.Such a pretty girl..hope she gets a diagnosis soon.
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