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Immediate Diagnosis Through Collaboration with Dr. Alisdair McNeill
3billion Inc reflects Dr. Alisdair McNeill’s latest finding on genetic variants to end diagnostic odyssey
- 3billion
- 2021.05.12
Rare Disease Series #22 Vertebral, cardiac, tracheoesophageal, renal, and limb defects (VCTERL)
Vertebral, cardiac, tracheoesophageal, renal, and limb defects (VCTERL) is a rare genetic disorder characterized by congenital heart disease, abnormal vertebral morphology, renal abnormalities, and limb abnormalities.
- 3billion
- 2021.05.06
My Odyssey #9 - Irene's story diagnosed with Vertebral, cardiac, tracheoesophageal, renal, and limb defects (VCTERL)
Diagnosis story of a girl diagnosed with Vertebral, cardiac, tracheoesophageal, renal, and limb defects (VCTERL)
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- 2021.04.15
Rare Disease Series #21 IPEX
Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked (IPEX) is a rare genetic disorder characterized by multiple autoimmune symptoms in organs.
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- 2021.03.29
Rare Disease Series #20 Crohn's disease
Crohn’s disease is a rare genetic disorder, a well-known type of inflammatory bowel disease. It is usually characterized by inflammation of the digestive system.
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- 2021.03.05
My Odyssey #8 - James' story diagnosed with Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked (IPEX)
Diagnosis story of a man diagnosed with Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked (IPEX)
- 3billion
- 2021.03.05
Rare Disease Series #19 Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 (EMPF1)
EMPF1 is a rare genetic disorder characterized by delayed psychomotor development and hypotonia.
- 3billion
- 2021.02.25
Rare Disease Series #18 Long QT syndrome
Long QT syndrome is a rare genetic heart disorder that can cause fast heartbeats, sometimes leading to fainting or seizure.
- 3billion
- 2021.02.01