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Participants Diagnosed

Our Current Research

Model Organisms

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.

Publications

Genes of interest

TRA2B MGA MYH7 TOR1AIP1 ZDHHC9 MT-TL2

Meet Our Participants


MT-TL2 ZDHHC9

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

progressive muscle weakness

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

IRF2BPL

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

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1 day ago

Undiagnosed Diseases Network - UDN

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. ... See MoreSee Less

And were 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 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/
... See MoreSee Less

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

Comment on Facebook

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!