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 152


Female, age 3 with facial differences, heart abnormalities (hypoplastic left heart syndrome, mitral regurgitation, aortic insufficiency), kidney abnormalities (vesicoureteral reflux, hydronephrosis, medullary nephrocalcinosis) and global developmental delay

Read More

Participant 151


Male, age 15 with plastic bronchitis, recurrent pneumonia and ear infections (otitis media)

Read More

Participant 150


Female, age 7 with respiratory failure, feeding difficulties and global developmental delay

Read More

Participant 149


Male, age 2 with seizures, absent speech, failure to thrive, and small head size (acquired microcephaly)

Read More

Participant 148


Female, age 6 with developmental delay, problems with coordination (ataxia), difficulty speaking (dysarthria), and tremor

Read More

Participant 147


Male, age 16 with Au-Kline syndrome caused by a change in the HNRNPK gene

Read More

Participant 146


Female, age 17 with seizures, regression and brain abnormalities (cortical dysplasia, brain atrophy)

Read More

Participant 145


Female, age 29 with difficulty controlling muscle movements (ataxia), difficulty speaking (dysarthria), muscle spasms and visual loss

Read More

Participant 144


Female, age 3 with developmental delay, staring spells, low muscle tone (hypotonia), and uncontrolled eye movements (nystagmus)

Read More

Participant 143


Female, age 3 with brain abnormalities, flow of urine from bladder to kidneys (vesicoureteral reflux), global developmental delay and atrial septal defect

Read More