Genetic_Disease 2007..


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Genetic_Disease 2007..

  1. 1. Genetic Disease Definition: A disorder of a body function, system or organ caused by an abnormality in an individual’s genetic material
  2. 2. Where does Genetic Material Come From/Review <ul><li>The genetic material of most living organisms, including human being is found almost exclusively in DNA, ( Deoxyribonucleic) </li></ul><ul><li>DNA comprises approximately 40% of the human chromosome while 60% is made up by protein. </li></ul><ul><li>There are 23 pairs, or 46 chromosomes in the human cells, with the exception of the sperm cell and the ovum which contain only 23. Each cell also contains mitochondrial DNA. </li></ul>
  3. 3. Human Chromosomes
  4. 4. There are four types of Genetic Diseases <ul><li>1. Single Gene: </li></ul><ul><ul><li>D isorders caused by abnormality or mutation in the sequence of one gene </li></ul></ul><ul><li>2. Multifactorial: </li></ul><ul><ul><li>caused by a combination of environmental as well as mutations in multiple genes </li></ul></ul><ul><li>3. Chromosomal: </li></ul><ul><ul><li>Abnormalities in chromosome structure such as missing or extra copies </li></ul></ul><ul><li>4. Mitochondrial: </li></ul><ul><ul><li>caused by a mutation in the non chromosomal DNA of the mitochondria. </li></ul></ul>
  5. 5. Diagnosis/Treatment <ul><li>Diagnosis </li></ul><ul><ul><li>RFLP </li></ul></ul><ul><ul><li>FISH </li></ul></ul><ul><ul><li>Karyotype </li></ul></ul><ul><ul><li>CVS </li></ul></ul><ul><ul><li>Gene Sequencing </li></ul></ul><ul><ul><li>Microarray (Protein/DNA) </li></ul></ul><ul><ul><li>HGP/Model organisms </li></ul></ul><ul><li>Treatments </li></ul><ul><li>Gene/Protein Therapy </li></ul><ul><li>Chemotherapy </li></ul><ul><li>Transplant </li></ul><ul><li>Stem cell technology </li></ul><ul><li>Tissue culture </li></ul><ul><li>Mab </li></ul><ul><li>Various drugs </li></ul>
  6. 6. Examples of Genetic Disorders 1. SCID: Severe Combine Immunodeficiency 2. Type I Diabetes 3. Cystic Fibrosis 4. Hemophilia 5. PKU: Phenylketonuria 6. Galactosemia 7. Achondroplasia 8. Alzheimer’s Disease
  7. 7. Severe Combine Immunodeficiency (SCID, X-SCID)
  8. 8. Type I Diabetes http:// <ul><li>Definition: </li></ul><ul><ul><li>Type I diabetes is a genetic disease of the immune system, in which the immune system attacks and most often destroys the beta cells of the pancreas </li></ul></ul><ul><li> Diseased Pancreatic Tissue </li></ul>
  9. 9. Cystic Fibrosis http:// /home <ul><li>Definition </li></ul><ul><li>An inherited disease that affects sodium channels in the body and causes respiratory and digestive problems. </li></ul>
  10. 10. Cystic Fibrosis <ul><li>Affects the mucus and sweat glands </li></ul><ul><li>Caused by a defective gene </li></ul><ul><li>Chronic lung infections </li></ul><ul><li>Causes malabsorption and malnutrition </li></ul>
  11. 11. Cystic Fibrosis <ul><li>Symptoms </li></ul><ul><ul><li>Stools, pale or clay colored </li></ul></ul><ul><ul><li>respiratory infections </li></ul></ul><ul><ul><li>Coughing or wheezing </li></ul></ul><ul><ul><li>Weight loss </li></ul></ul><ul><ul><li>Delayed growth </li></ul></ul>
  12. 12. Cystic Fibrosis <ul><li>Treatment </li></ul><ul><ul><li>Specialty clinics </li></ul></ul><ul><ul><li>antibiotics for respiratory infections </li></ul></ul><ul><ul><li>pancreatic enzymes </li></ul></ul><ul><ul><li>Lung transplant in rare cases </li></ul></ul><ul><ul><li>ibuprofen may slow lung deterioration </li></ul></ul>
  13. 13. Hemophilia  The oldest known genetic blood disorder:  There are two types of Hemophilia, Type A and Type B  H emophilia A patients lack the blood clotting protein factor VIII  Hemophilia B patients lack the blood clotting protein, factor IX
  14. 14. Phenylketonuria (PKU)  PKU is a human genetic disease known as phenylketonuria.  Normally humans have one or two of the genes that encodes for the protein phenylalanine hydroxylase thus can metabolize foods containing the amino acid phenylalanine.  People with PKU have a gene that encodes for a nonfunctional version of phenylalanine hydroxylase thus cannot metabolize phenylalanine .
  15. 15. Phenylketonuria(PKU) Phenylketonuria - Genetics Home Reference Unable to metabolize phenylalanine
  16. 16. Galactosemia Definition http:// <ul><li>Galactosemia is an autosomal recessive disorder, resulting from a deficiency in one of several enzymes necessary for the metabolism of galactose. Galactose is formed when lactose, the major sugar of milk and most soy commercial infant formulas, is digested in the body. </li></ul>
  17. 17. ACHONDROPLASIA Achondroplasia Defined as a bone growth disorder characterized by abnormal body proportions
  18. 18. It is inherited in an autosomal dominant fashion but the majority of cases (about 80%) are due to spontaneous mutations of alleles of normal sized parents. It is the most common cause of dwarfism accounting for about 70% of all cases of dwarfism Mutations of the FGFR3 gene on chromosome 4 causes achondroplasia Average height of an adult male - 4 foot 4 inches (131 cm or 52 inches) Average height of an adult female - 4 foot 1 inch (124 cm or 49 inches)
  19. 19. Alzheimers Alzheimer's Association | Home <ul><li>What is Alzheimers? </li></ul><ul><ul><li>Alzheimers is a form of dementia that causes changes in the brain, and affects a person’s memory, mood, and behavior. This disease mostly affects people over 65. </li></ul></ul><ul><li>Diagnosis: </li></ul><ul><ul><li>There is no specific test for Alzheimer’s disease, however, physician are able to look at a person’s medical history, do a complete physical or give a memory and/or psycological test to see how well the brain works. They may also order a brain scan. </li></ul></ul>
  20. 21. BTEC 3301 Fall Semester 2005 <ul><li>Robin Renteria </li></ul><ul><li>Corey Ruckert </li></ul><ul><li>Stephanie Patrick </li></ul><ul><li>Blake Dinsmore </li></ul><ul><li>Aminatu Issaka </li></ul><ul><li>Mahdi </li></ul><ul><li>Ada </li></ul><ul><li>Ibi </li></ul>