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cALD typically affects boys with an age of onset between 4-8 years. This results in brain inflammation and demyelination leading to permanent disability and death within 2-4 years. X-ALD patients can also develop an acute form, cerebral ALD (cALD).
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Life expectancy of AMN patients is reduced when patients additionally develop cerebral ALD. This form is progressively debilitating, affecting the spinal cord and peripheral nerve with spastic paraparesis, sensory dysfunction and incontinence, hence with a poor prognosis. There is currently no satisfactory therapeutic treatment available for AMN, and the only treatment option for cALD is allogeneic Human Stem Cell Transplant (HSCT) which requires prior myeloablation with all inherent risks.Īdrenomyeloneuropathy (AMN) is the most common form of X-ALD, occurring in all male patients reaching adulthood and with an onset of symptoms typically at the age of 20-30 years. X-ALD is characterized by central inflammatory demyelination in the brain, axonal degeneration in the spinal cord and adrenal insufficiency. The defective function of the transporter leads to an accumulation of very long-chain fatty acids (VLCFA) in several tissues and a pathogenic cascade of events that contribute to membrane destabilization of the myelin sheath, mitochondrial dysfunction, oxidative stress, neuroinflammation and compromised blood brain barrier (BBB) integrity. The disease is caused by inactivation of the peroxisomal ABCD1 gene located on the X-chromosome. We also discuss strategies and present examples and case studies of common drugs being repositioned for treatment of orphan diseases.X-linked Adrenoleukodystrophy (X-ALD) is a rare inherited peroxisomal neurodegenerative disorder, chronically debilitating and potentially life-threatening, and has an incidence of 1 in 17,000 births. In this chapter, we review some of the current bioinformatic analytical options available for orphan disease and drug research including computational approaches for candidate gene prioritization. Comprehensive understanding of such molecular bases may provide opportunities for novel interventions that are beneficial for an array of related orphan diseases.
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Analysis of these biological networks can also identify common pathways or processes for multiple orphan diseases that are biologically related. Constructing networks that underlie biological processes and pathways associated with orphan diseases and orphan drugs facilitate identification of the functional units that respond to genetic perturbations and potentially affect disease risk or therapeutics. Relatively few studies have attempted global analysis of all orphan diseases. In spite of technological advances and opportunities available to understand the causes of orphan diseases and for developing innovative medical approaches, most of the current efforts are focused either on a single or related group of orphan diseases. The bulk of genes and pathways underlying these diseases remain unknown and pose a major gap in orphan disease research. Many of the orphan diseases appear early in life and approximately 30% of children with orphan diseases die before the age of 5. Since a majority of the known orphan diseases are genetic, they are present throughout the life of affected individuals. In general, a rare or orphan disease is any disease that affects a small percentage of the population.