DiGeorge Syndrome: Tribute to Ryan Dempster

DiGeorge Syndrome is a rare congenital (i.e. present at birth) disease whose symptoms vary greatly between individuals, but commonly include a history of recurrent infection, heart defects and characteristic facial features.  Dr. Angelo DiGeorge observed the combination of a lack of the thymus gland (which is important for certain aspects of immunity) and a lack of parathyroid glands (which results in low calcium levels in the blood).  Subsequently, it was found that a high percentage of children with DiGeorge syndrome have certain forms of congenital heart disease. DiGeorge syndrome is caused by a large deletion from chromosome 22, occuring to 1 in 4,000 babies’ development in the womb, produced by an error in recombination at meiosis (the process that creates germ cells and ensures genetic variation in the offspring). This deletion means that several genes from this region are not present in DiGeorge syndrome patients. It appears that the variation in the symptoms of the disease is related to the amount of genetic material lost in the chromosomal deletion. There is no “cure” for the disease, but many effective treatments for related complications.
born April 1, rare disease prevents her from swallowing & digesting food
Padres Cubs Baseball
Links to Organizations related to DiGeorge Syndrome:

~ by marbleroad on June 9, 2009.

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