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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

PIEZO1 SPTA1 GNAO1 SRCAP WNK1 KCND3

Meet Our Participants


hypoglycemia and developmental delay

The patient was diagnosed with a heart defect (tetralogy of Fallot with pulmonary atresia) before she was born, which was repaired after birth. She was also found to have problems with the connection between her brain and spinal cord (Chiari I malformation) and the spinal cord itself (tethered cord). She … read more

neurodegenerative condition

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

overgrowth

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

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Undiagnosed Diseases Network on Facebook

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!

As another summer week winds down, we want to take a moment to thank everyone that has liked or followed our Facebook page. Whether you've been here from the start or just recently connected with us, THANK YOU for supporting our work and helping us spread the word.

For those of you just finding out about us, did you know the UDN is actually an expansion of the NIH Undiagnosed Diseases Program (UDP)? Our colleagues at the UDP have been seeing undiagnosed patients at The NIH Clinical Center in Bethesda, Maryland since 2008. Visit the link below to learn more about the history of the UDP.

www.genome.gov/27543155/udp-background/
... See MoreSee Less

As another summer week winds down, we want to take a moment to thank everyone that has liked or followed our Facebook page. Whether youve been here from the start or just recently connected with us, THANK YOU for supporting our work and helping us spread the word.

For those of you just finding out about us, did you know the UDN is actually an expansion of the NIH Undiagnosed Diseases Program (UDP)? Our colleagues at the UDP have been seeing undiagnosed patients at The NIH Clinical Center in Bethesda, Maryland since 2008. Visit the link below to learn more about the history of the UDP. 

https://www.genome.gov/27543155/udp-background/