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Genetic Diseases Taken from Dwarfism.org: Note: We are first and foremost human beings, it is secondary that we are human beings who are of restricted growth… If people, both average and short stature, were able to place their humanity before everything else, the world might be a much better place. The more we stick labels on each other, the more we segregate ourselves, and the more we encourage ignorance and prejudice. Nondisjunction… when meiosis goes ‘bad’ Mitosis: cells divide and make copies of themselves Meiosis: cells divide and make sperm and egg… The resulting cells have ½ of the original genetic material (UNLESS SOMETHING GOES WRONG!) Down Syndrome 3 chromosome #21 Characteristics of Down Syndrome • 1 in 800 babies are born with Down Syndrome • Heart defects • Loss of vision and hearing • Flattened nose • Short hands and fingers • Protruding tongue • Abnormal head size/shape Edward’s syndrome Edward's or trisomy 18: • structural abnormalities, such as heart defects in around 40% of babies • Many babies are stillborn before the end of pregnancy. • half of the survivors survive the first month of life • 10% live to one year of age Edward’s Syndrome Trisomy 18 Patau Syndrome (Trisomy 13) So many organ systems are affected that the mean survival age is 6 months: Most often cleft palate, heart defects, nervous system defects, rocker bottom feet, and other organ system defects Klinefelter’s Syndrome (XXY) Remember: Males = XY Females = XX 1 in 1000 males have Klinefelter’s Disease. Most often sterile, breast development in 50% of cases, some developmental disabilities… Current practice is to treat the individual as a male, and give testosterone treatments… Klinefelter’s Disease East German swimmers ultimately changed Olympic law… …the new law stated that no athlete may participate as a woman if she has a Y chromosome. Turner’s Syndrome (45, X) “Monosomy” - short stature - webbed neck - lack ovarian development - underdeveloped breasts Autosomal Recessive Diseases Tay Sachs Can’t digest a type of lipid, and this lipid collects in the brain. Progressively deteriorates the brain and nervous system Cystic Fibrosis is not a polyploidy genetic disease. It is an autosomal recessive disease. Cystic Fibrosis: Too much mucus and sweat produced. People drown in their own mucus if they do not have it vibrated or pounded out… eventually affects the glands of the pancreas. ½ reach adulthood. Mallory Code Mallory has cystic fibrosis (CF). And diabetes. And serious asthma that often shortens her breath. The CF also agitates a chronic sinus problem, giving her blinding headaches. Last summer, she had her ninth sinus surgery; just before, she played--and won--a major tournament while wearing a heart monitor. "Wow," Mallory says, shaking her head and making her blond ponytail bounce. "Guess I'm a pretty big mess." Cystic fibrosis is an incurable genetic disease affecting approximately 30,000 people in the United States. Three decades ago, average life expectancy for a child with CF was about 12 years. Thalassemia An anemia condition that requires blood therapy… addition of red blood cells… Eventually too much iron collects and needs to be removed, (chelation) Very Very painful… Chelation Therapy To help remove excess iron, patients undergo the difficult and painful infusion of a drug, Desferal. A needle is attached to a small batteryoperated infusion pump and worn under the skin of the stomach or legs five to seven times a week for up to twelve hours. Desferal binds iron in a process called "chelation." Chelated iron is later eliminated, reducing the amount of stored iron. The Compliance Problem Compliance with Desferal is vital to the thalassemia patient's long term survival. However, many patients find the treatment so difficult that they do not keep up with it or abandon treatment altogether. Lack of compliance with chelation therapy leads to accelerated health problems and early death. To combat the compliance problem, researchers are at work on less stressful new chelators that can improve patient compliance. Phenylketonuria Recessive genes on Number 12 Autosomal DOMINANT Diseases Huntington's Disease Huntington’s Disease is a progressive, degenerative disease that causes certain nerve cells in your brain to waste away. Neurofibromatosis Sex-linked Diseases A ‘bad’ X… only bad if you have only one X… Therefore..affects males mostly. Myotonic muscular dystrophy Hemophilia: inability of the blood to clot Males must inherit the X chromosome with the genetic disease from their mother! (always the case with X-linked recessive diseases) Birth defects… genetic? Environmental? Sirenomelis Malformations include a single lower limb, with various degrees of involvement ranging from single to separate femurs in the same skin shaft, presence of two feet or one foot, to absence of both feet Hydrocephalus What numbers do you see? (People with red/green colorblindness can only see 56 and 25) Have you seen Little Miss Sunshine?