Solving Medical Mysteries
Through Team Science

Participant 014

hearing loss


Female, age 25, with early onset hearing loss, frequent fevers and flares of pain with blurred vision and vomiting, systemic itching, delayed gastric emptying (gastroparesis), recurrent infections, and reduced sweating caused by a change in the MPEG1 gene

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Participant 013



Female, age 49, with muscle weakness, balance problems, clumsiness, muscle twitching (fasciculations) and cramps, abnormal heart rhythm (second-degree AV block), episodes of high potassium (hyperkalemia), restrictive lung disease, double vision (diplopia), and seizures

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Participant 012


Female, age 2, with congenital disorder of glycosylation (type IIm) caused by a change in SLC35A2 gene

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Participant 011

nasal polyps


Male, age 55, with wheezing, chronic sinus infections (sinusitis), nasal polyps, chronic fatigue, a bulging, weakened wall of the aortic root (ascending aortic root aneurysm), and neuropathy caused by changes in the IFIH1 gene

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Participant 010

complex neuromuscular condition


Male, age 7, with a complex neuromuscular condition involving vocal cord paralysis, feeding issues, and reduced nerve responses

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Participant 009



Female, age 14, with primary ciliary dyskinesia caused by changes in the DNAH11 gene

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Participant 008

developmental delay


Male, age 18, with global developmental delay, autism, severe nearsightedness (myopia), different facial features, heart defects (atrial septal defect, ventricular septal defect) and a cleft palate caused by a change in the KMT2C gene

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Participant 007


Male, age 35, with triple A syndrome (achalasia (esophagus damage), Addison disease (adrenal gland disorder), and alacrima (inability to produce tears)

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Participant 006

increased weight


Male, age 3, with low muscle tone (hypotonia), developmental delay, and increased weight caused by a change in the PRKAR1B gene

YouTube channel MIT Technology Review article

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Participant 005

Shashi-Pena syndrome


Male, age 8, with macrosomia, a glabellar hemangioma, and learning difficulties caused by a change in the ASXL2 gene (Shashi-Pena syndrome)

Interview (WRAL Channel 5)

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