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Rare Disease Series

Informative and educational surface-level overviews, looking into some of the world's rarest known diseases.
28 posts
Rare Disease Series

Rare disease series #28 - Ataxia with Vitamin E Deficiency (AVED)

“Surprisingly, the mother informed me that Emily had clumsiness since childhood. In addition, Emily had never walked like ordinary people, and she seemed to have frequent…

Rare Disease Series

Rare Disease Series #27: Sickle Cell Disease

Sickle cell disease (SCD) is a group of rare blood disorders that result in sickled erythrocytes (red blood cells). Such cells have shorter lifespans and look…

Rare Disease Series

Rare disease series #26: Lysosomal storage diseases (LSDs)

Lysosomal storage diseases (LSD) are a group of over 70 diseases that are distinguished by lysomal dysfunction and mostly inherited as autosomal recessive traits with some…

Rare Disease Series

Rare disease series #25: Spinal Muscular Atrophy

Let’s continue our series of rare genetic diseases by looking more closely at Spinal Muscular Atrophy (SMA). This disease affects 1 per 8,000 to…

Rare Disease Series

Rare Disease Series #24: Amyotrophic Lateral Sclerosis

Recently, there have been a number of inquiries from patients about Amyotrophic Lateral Sclerosis (called as ALS) if it can be covered by the WES(Whole…

Rare Disease Series

Rare Disease Series #23: Gabriele-de Vries Syndrome

Gabriele-de Vries Syndrome (GADEVS) is classified as an autosomal dominant neurodevelopmental disorder. Its prevalence is less than 1 in 1,000,000.…

Rare Disease Series

Rare Disease Series #22: VCTERL

VCTERL What Is VCTERL? Vertebral, cardiac, tracheoesophageal, renal, and limb defects (VCTERL) is a rare genetic disorder characterized by congenital heart disease, abnormal vertebral morphology, renal…

Rare Disease Series

Rare Disease Series #21: IPEX

IPEX About IPEX Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked (IPEX) is a rare genetic disorder characterized by multiple autoimmune symptoms in our body organs such as intestines,…

Rare Disease Series

Rare Disease Series #20: Crohn's Disease

About Crohn’s disease Crohn’s disease is a rare genetic disorder, a well-known type of inflammatory bowel disease (IBD). It is usually characterized by inflammation…

Rare Disease Series

Rare Disease Series #19: Encephalopathy, Lethal, Due to Defective Mitochondrial Peroxisomal Fission 1

About EMPF1 Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 (EMPF1) is a rare genetic disorder characterized by delayed psychomotor development and hypotonia that may…

Rare Disease Series

Rare Disease Series #18: Long QT Syndrome

About LONG QT SYNDROME Long QT syndrome is a rare genetic heart disorder that can cause fast heartbeats, sometimes leading to fainting or seizure. Many people…

Rare Disease Series

Rare Disease Series #17: Infantile Cerebellar-retinal Degeneration

About INFANTILE CEREBELLAR-RETINAL DEGENERATION INFANTILE CEREBELLAR-RETINAL DEGENERATION(ICRD) is one of the rare neurodegenerative disorders affecting the brain and eyes. The disease is derived from the…

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