Over 7,000 rare diseases have been identified, 80% of which are genetic.
They can affect people at different times in their lives, affect a single system of the body, or display symptoms across multiple organs. Due to this, rare diseases are rarely considered as a group by the medical profession, meaning there are no rare disease specialists. Instead, each condition falls under the care of one or more different specialities.
Fragile X Syndrome
Fragile X syndrome (FXS) is a genetic condition that causes intellectual disability, behavioral and learning challenges, and various physical characteristics. Though FXS occurs in both genders, males are more frequently affected than females, and generally with greater severity. Life expectancy is not affected in people with FXS because there are usually no life-threatening health concerns associated with the condition.GBM
Glioblastoma
Glioblastoma
A fast-growing type of central nervous system tumor that forms from glial (supportive) tissue of the brain and spinal cord and has cells that look very different from normal cells. Initial signs may include headaches, personality changes, nausea, and symptoms similar to those of a stroke. Symptoms often worsen rapidly and may progress to unconsciousness. About 3 in 100,000 people develop the disease per year.PSO
Psoriasis
Psoriasis
Psoriasis is a skin disorder that causes skin cells to multiply up to 10 times faster than normal. This makes the skin build up into bumpy red patches covered with white scales. They can grow anywhere, but most appear on the scalp, elbows, knees, and lower back. Psoriasis can’t be passed from person to person.Duchenne Muscular Dystrophy
Duchenne and Becker MD are rare genetic diseases defined by muscle weakness. Muscles are progressively getting weaker over time and this ultimately affects the ability to breathe as well as the function of the heart, as the heart is a muscle too.Huntington’s disease
Huntington’s disease is a fatal neurodegenerative genetic disorder that causes the progressive breakdown of nerve cells in the brain. The disease is mostly inherited, with first symptoms usually appearing during their prime working years but can also occur in children and young adults. The worldwide prevalence of HD is 5 to 10 cases per 100,000 persons, but varies greatly geographically.ACRD
Acrodysostosis