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 167


Female, age 8 with global developmental delay, low muscle tone (hypotonia), a movement disorder, and brain abnormalities (hypomyelination, cerebellar atrophy)

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Participant 166


Male, age 5 with multiple bowel atresias prior to birth (meconium peritonitis), blocked bile ducts (biliary atresia), stroke, hypertension, hypoglycemia, pancreatic insufficiency, hypotonia and global developmental delay

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Participant 165


Female, age 48 with itchy skin inflammation (atopic dermatitis) and allergies (allergic rhinitis) caused by a change in the FLG gene

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Participant 164


Female, age 25 with severe intellectual disability, seizures, and absent speech caused by a change in the CDK19 gene

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Participant 163


Male, age 27 with progressive mental deterioration, seizures, and brain abnormalities

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Participant 162


Female, age 9, with brain abnormalities (abnormal cerebellum morphology, cerebellar atrophy), stiffness of the legs (spastic paraplegia) and muscle fiber disease (myopathy)

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Participant 161


Male, age 19 with short stature, heart abnormalities (vascular ring, right aortic arch), exercise intolerance, and abnormal location of the thymus (ectopic thymus tissue)

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Participant 160


Male, age 7 with episodic fevers, food intolerance, projectile vomiting, and chronic constipation

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Participant 159


Female, age 8 with intractable seizures, large head size (macrocephaly), global developmental delay, and abnormal posturing due to involuntary muscle contractions (dystonia)

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Participant 158


Female, age 5 with seizures (status epilepticus), developmental regression, and eye abnormalities (strabismus, esotropia)

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