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RADIX = Rare Disease Research with the aim of achieving highly efficient and affordable solutions. 8 Families of solutions will be developed
Family
Family
Description
Description
Examples
Examples
8 Major Families of Rare Diseases
8 Major Families of Rare Diseases
Family
Description
Examples
Genetic Disorders
Conditions caused by abnormalities in genes or chromosomes
Cystic fibrosis, Huntington’s disease
Metabolic Disorders
Diseases that affect chemical processes in the body
Phenylketonuria, Gaucher's disease
Autoimmune Diseases
Disorders where the immune system attacks the body’s own tissues
Lupus, Sjögren’s syndrome
Neurological Disorders
Diseases affecting the nervous system
Amyotrophic lateral sclerosis (ALS), Multiple sclerosis
Congenital Conditions
Birth defects that affect the structure or function of the body
Congenital heart defects, Spina bifida
Infectious Diseases
Rare infections caused by pathogens
Rare strains of bacteria or viruses
Cancers
Rare forms of malignancies
Sarcomas, rare leukemias
Idiopathic Conditions
Diseases with unknown causes
Idiopathic pulmonary fibrosis
image: acute-myeloid-leukemia
Considerations accompanying Classification
Considerations accompanying Classification
Overlap Among Categories: Some diseases may fit into multiple categories, such as metabolic disorders that also have autoimmune components.
Genetic vs. Environmental Factors: Some diseases can be attributed to a combination of genetic predisposition and environmental triggers, making strict classification challenging.
Refinement: New medical research may lead to the identification of more refinement as our understanding of rare diseases evolves.
Dividing rare diseases in this way can aid in research, treatment strategies, and patient support, but the complexity of individual diseases will always have to be acknowledged.
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