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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

PIEZO1 SPTA1 GNAO1 SRCAP WNK1 KCND3

Meet Our Participants


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

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

Cataracts

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

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