Disorder Resources

Gaucher Disease

An inherited disorder that results from a deficit of an enzyme responsible for breaking down a fatty acid substance within the organelles of cells, called lysosomes.

Fabry Disease

Fabry disease is a disorder inherited in an x-linked manner, which prevents the body from producing the enzyme responsible for breaking down fat.

Pompe Disease

Pompe disorder is a genetic disorder caused by the accumulation of complex sugar called glycogen in organs and tissues.

MPS Diseases

Mucopolysaccharidoses (MPS) are rare diseases related to limited enzyme production - lysosomal alpha-L-iduronidase.

Niemann-Pick Disease

Niemann-Pick Types A and B (NPA and NPB), also called Acid Sphingomyelinase Deficiency (ASMD), are caused by the deficiency of a specific enzyme, acid sphingomyelinase (ASM).

Niemann-Pick Disease Type C

Niemann-Pick Types C (NPC) is a lysosomal lipid storage disease that prevents the body from carrying lipids inside of cells. NPC is caused by mutations in the NPC1 and NPC2 gene.


Autoimmune Disorders

Immune Deficiencies

Eosinophilic Esophagitis (EoE)

Atopic Dermatitis

Antiphospholipid Syndrome

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