Solving Medical Mysteries
Through Team Science

Finding Answers through Sharing

We are always looking for new participants that can help us better understand the medical mysteries plaguing us today. Here, you can learn more about some of our past participants and help us find and connect with others with the same or similar conditions.

If you or someone you know has any of the symptoms or genetic changes listed in these profiles, please contact us.

Each of these pages includes details about our participants. We respect the privacy of all our participants, and sharing information on our site is not a requirement to participate in the study. Only participants who have given us their consent will have information posted to our site.

Participant 191


Female, age 5, with Noonan syndrome, systemic-onset juvenile idiopathic arthritis, and multiple congenital anomalies.


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Participant 190


Female, age 20, with musculoskeletal and orthopedic anomalies caused by a change in the KIF5B gene.

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Participant 189


Female, age 10 with musculoskeletal anomalies, congenital heart disease, dysmorphic facial features, and global developmental delay

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Participant 188


Female, age 8 with multiple dysmorphic features, global developmental delay, and epileptic encephalopathy

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Participant 187


Female, age 13 with unsteady gait (gait ataxia), intellectual disability, absent speech, and seizures

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Participant 186


Female, age 3 with multiple congenital anomalies

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Participant 185


Male, age 68 with a decrease in blood pressure when moving from sitting to standing (orthostatic hypotension due to autonomic dysfunction), daytime drowsiness (narcolepsy), and cataracts due to changes in the CHRNA3 gene.

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Participant 184


Female, age 24 with global developmental delay, intellectual disability, brain abnormality (Arnold-Chiari type I malformation), overactive thyroid (hyperthyroidism), and brittle bones (osteopenia)

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Participant 183


Female, age 13 with immune deficiency, joint pain (arthralgia), inflammation of the blood vessels in the eye (retinal vasculitis), and recurrent inflammation of the liver (hepatitis) caused by a change in the GDF11 gene

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Participant 182


Male, age 1 with abnormal white matter of the brain (leukodystrophy), global developmental delay, abnormal brain electrical activity, and eye abnormalities (visual impairment, optic atrophy, esotropia)

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