Solving Medical Mysteries
Through Team Science

Participant 014

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

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

Participant 012

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

Participant 011

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

Participant 010

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

Participant 009

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

Participant 008

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

Participant 007

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

Participant 006

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

Participant 005

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)