CHARGE Syndrome

CHARGE syndrome is a complex genetic condition, which affects multiple systems in the body and sensory systems. It is the leading genetic cause of deafblindness worldwide, occurring in approximately 1 in 10,000 births.

Lysosomal Storage Disorders

Lysosomal storage disorders (LSDs) are a group of about 50 genetic diseases caused by defects in lysosomal proteins or lysosomal related-proteins, which results in dysfunction of lysosomes.

Niemann-Pick Disease

Niemann-Pick disease (NPD) is a group of inherited metabolic disorders in which harmful quantities of a fatty substance (lipids) accumulate in the spleen, liver, lungs, bone marrow, and brain.

Chronic Granulomatous Disease

Chronic granulomatous disease (CGD) is a rare, inherited immunodeficiency that affects certain white blood cells.

Fragile X Syndrome

Fragile X Syndrome is a genetic condition that causes a range of developmental problems including learning disabilities and cognitive impairment. Usually, males are more severely affected by this disorder than females.

Menkes Disease

Menkes disease is a disorder that affects copper levels in the body. It is characterized by sparse, kinky hair; failure to thrive; and progressive deterioration of the nervous system.

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