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Our Current Research

Description

Composed of 13 medical and research centers in the United States, the UDN is always striving for new breakthroughs in the detection and diagnosis of medical conditions. Our collaborative approach allows us to bridge the gap between clinical care and research and set the stage for groundbreaking new discoveries in the field of rare disease.

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Publications

Genes of interest

GNAO1 SRCAP WNK1 KCND3 SLC35A2 DNAH11

Meet Our Participants


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

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

Follow Us

Follow us on social media for real-time research updates.

Undiagnosed Diseases Network on Facebook

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
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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
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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 ... See MoreSee Less

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.

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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We wanted to take a moment to thank everyone that has Liked our Facebook page. Whether youve 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!

https://undiagnosed.hms.harvard.edu/