Genetic Diseases Cystic Fibrosis Albinism Phenylketonuria Macy VanArnam.

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Phenylketonuria (PKU)

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Presentation transcript:

Genetic Diseases Cystic Fibrosis Albinism Phenylketonuria Macy VanArnam

What is Cystic Fibrosis Effects the Respiratory Track from the Nose to the Lungs Effects the digestive system –especially the pancreas Effects sweat glands and Male fertility Effects bodies ability to move salt and water in and out of cells Mainly found in the Caucasian race

What are the Causes and Cures? Genetic Disease Defective CFTR Gene –500 known defects Most common defect is CFTR delta-F508 No cure for CF Early treatment can prevent malnutrition Medicines to help the body carry on functions efficiently

Off Spring Diagram

Phenylketonuria (PKU)  Rare metabolic Disorder  Deficient production of liver enzyme phenylalanine hydroxylase (PAH)  PAH converts amino acid called phenylalanine into another amino acid, tyrosine  Abnormal levels of phenylalanine are toxic to cells in the nervous system  Causes irreversible brain damage

Causes and Cures Genetic Disease Mutation in the PAH gene Only expressed when two recessive genes are inherited PAH is dominant to PKU (P-PAH,p- PKU) Phenylalanine- restricted diets can eliminate most PKU symptoms except retardation

Off Spring Diagram

Albinism Lack of pigment in the skin, hair, and eyes May lead to eye problems and skin cancer Found in all races Found in fewer than 5 in every 100,000 Americans Many different types

Causes and Cures A mutation in one or more of the genes that make melanin (pigment) Two recessive genes are inherited Can be treated but not cured There is no medicine that can replace pigment Glasses can help with some eye problems

Off Spring Diagram

Bibliography Andersen, Dorothy, MD. “Cystic Fibrosis.” Gale Encyclopedia of Medicine. Online.Gale Group. Jan 1, 2001 Odle. Teresa. G. and Ericson. Karen. RN. “Birth Defects” Gale Encyclopedia of Medicine. Online. Gale Group. Jan 1, 2001 Letcher. Marshall. G. MA. “Phenylketonuria” Gale Encyclopedia of Medicine. Online. Gale Group. Jan 1, 2001

Bibliography Con’t Turkington. Carol. A. PhD. “Albinism”Gale Encyclopedia of Medicine. Gale Group. Jan Odle. Teresa. G. and Larson. Jeffrey. P. RPT. “Genetic Counseling” Gale Encyclopedia of Medicine. Gale Group. Jan