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. While these participant pages are helpful to understand our participants’ stories, they do not begin to describe their diagnostic odysseys. A special thank you goes out to our participants and their families for sharing their experiences.

Participant 209


Male, age 11, with autism spectrum disorder, cognitive impairment, facial feature differences, and low muscle tone caused by a change in the MRTFB gene.

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Participant 208


Male, age 39, with slurred speech, problems with coordination, and cognitive problems caused by a change in the ATP13A2 gene

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Participant 207


Male, age 47, with progressive muscle weakness and wasting (skeletal muscle atrophy, muscular dystrophy).

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Participant 206


Male, age 17, with prune belly syndrome and strokes due to disease of the arteries in the brain (arteriopathy) caused by a change in the MIR145 gene

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Participant 205


Male, age 5, with global developmental delay, generalized low muscle tone, and recurrent respiratory infections

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Participant 204


Male, age 71, with elevated creatinine kinase levels, breakdown of muscle tissue (rhabdomyolysis), and discoloration of urine (pigmenturia)

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Participant 203


Female, age 5, with short stature, hearing loss, heart differences, gross motor delay, and low muscle tone

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Participant 202


Male, age 4, with a history of neonatal abstinence syndrome, global developmental delay, brain malformation (Chiari I malformation), and uncoordinated gait (gait ataxia)

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Participant 201


Male, age 5, with global developmental delay, coordination and movement problems (ataxia), and speech delays

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Participant 200


Female, age 38, with severe dysfunction of the autonomic nervous system (dysautonomia), sudden drops in blood pressure (vasovagal syncope), and loss of bladder control (neurogenic bladder).


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