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Cystic fibrosis (also known as CF or mucoviscidosis) is an autosomal recessive genetic disorder affecting most critically the lungs, and also the pancreas, liver, and intestine.
Dorothy Hansine Andersen (May 15, 1901 – March 3, 1963) was the American physician and researcher who first identified and named cystic fibrosis.During her almost thirty year tenure at Babies Hospital of Columbia-Presbyterian Medical Center (now Morgan Stanley Children's Hospital), Andersen not only identified CF and its inheritance through a recessive gene, she was also at the forefront of ...
The following is a list of genetic disorders and if known, type of mutation and for the chromosome involved. Although the parlance "disease-causing gene" is common, it is the occurrence of an abnormality in the parents that causes the impairment to develop within the child.
The term childhood disease refers to disease that is contracted or becomes symptomatic before the age of 18 or 21 years old. Many of these diseases can also be contracted by adults. Some childhood diseases include:
The hospital operates a Level I Pediatric Trauma Center, a Level IV Neonatal Intensive Care Unit and a pediatric burn center. [14] [15] Other services and programs include minimally invasive surgery, cystic fibrosis center, sickle cell anemia care and research center, AIDS/HIV program, sleep center and fetal evaluation center.
Not all heterozygotes for recessive lethal alleles will show a mutant phenotype, as is the case for cystic fibrosis carriers. If two cystic fibrosis carriers have children, they have a 25 percent chance of producing offspring having two copies of the allele, eventually resulting in the death of the child without intensive treatment. [9]
Early diagnosis makes possible the readiness of therapeutic dietary information, enzyme replacement therapy and organ transplants. [101] Different countries support the screening for a number of metabolic disorders (inborn errors of metabolism (IEM)), and genetic disorders including cystic fibrosis and Duchenne muscular dystrophy.
[11] [12] Treating genetic problems is the mission of the Clinic for Special Children in Strasburg, Pennsylvania, which has developed effective treatments for such problems as maple syrup urine disease, a previously fatal disease. The clinic is embraced by most Amish, ending the need for parents to leave the community to receive proper care for ...