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COMMON GENETIC DISORDERS

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This slide show will provide you information about the common genetic disorders in brief.

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COMMON GENETIC DISORDERS

  1. 1.              Gaucher Disease Huntington’s Disease Hemophilia Parkinson’s Disease Phenylketonuria Sickle Cell Anemia Cystic Fibrosis Down Syndrome Alzheimer’s Disease SCID: Severe Combine Immunodeficiency Achondroplasa Autism Others
  2. 2.     1. Single Gene: › Disorders caused by abnormality or mutation in the sequence of one gene 2. Multifactorial: › Caused by a combination of environmental as well as mutations in multiple genes 3. Chromosomal: › Abnormalities in chromosome structure such as missing or extra copies 4. Mitochondrial: Caused by a mutation in the non chromosomal DNA › of the mitochondria.
  3. 3.    Gaucher disease is a genetic disorder handed down from generation to generation. It is the most common of the lipid storage diseases. It is caused by deficiency of the enzyme, β-glucocerebrosidase. When there is not enough of the enzyme, the fat can not be broken down and is stored primarily in the liver and spleen Other body tissues, bones and organs may also be affected. In rare cases, it may also accumulate in the brain.
  4. 4.      bone pain and fractures easy bruising fatigue seizures Liver and spleen enlargement
  5. 5.      In the past the only potential treatment was removal of the spleen (splenectomy). This has given way to injections of a replacement synthetic enzyme (Cerezyme/Ceredase). Gene therapy is an experimental approach. A novel oral treatment has recently been evaluated. This drug is known as N-butyldeoxynojirimycin (OGT 918). The mechanism of action is by inhibiting the formation of glucocerebroside ( important components in animal muscle and nerve cell membranes.)
  6. 6. Huntington’s Disease results from genetically programmed degeneration of nerve cells in certain areas of the brain.  This degeneration causes uncontrolled movements, loss of intellectual faculties, and emotional disturbance.
  7. 7.   Early signs of Huntington’s disease include mood swings and irritability, depression, loss of memory, and uncontrolled movements. As the disease progresses, walking and speech become more difficult, and memory and intellectual functions continue to decline.
  8. 8. Hemophilia is the oldest known bleeding disorder.  It is a sex-linked disorder, which is why it appears mostly in males.  Hemophilia is like any other sex-linked disorder, because the “hemophilia” gene is on the X chromosome.  2 types of Hemophilia: › Hemophilia A: Lack the blood clotting protein factor VIII › Hemophilia B: Lack the blood clotting protein factor IX. 
  9. 9.     Clotting factors: Given in differing doses according to the weight of the individual and the severity of the bleeding. Recombinant DNA Techniques: Clotting factor genes are grown synthetically. Clotting factor products from human blood plasma are not used due to chances of being contaminated with viruses such as HIV or Hepatitis. During the 1990s it became possible to prepare synthetic (recombinant) factors, using specially prepared mammalian cells and these recombinant concentrates are now widely used.
  10. 10. Gene Therapy › A major focus of research in hemophilia centers. › Because only one defective gene is involved, replacing that gene effectively may cure hemophilia. › Although gene therapy may eventually replace treatment for individuals with hemophilia, it will not eliminate defective genes in carriers, who could still pass hemophilia to their children. › Currently studies are being conducted for type B hemophilia to determine the safety of the gene transfers.
  11. 11. Parkinson’ s disease is a neurological condition that has a genetic component next to Alzheimer’s.  The chance of getting or developing Parkinson’s gets higher as age increases. 
  12. 12. DOPAMINE Chemical produced in the middle part of the brain that is responsible for organizing coordinated movements and to send this signal to the control centers of the brain. •In Parkinson’s disease, this chemical is not produced enough and functioning starts to shut down slowly & patient begins to lose control over many vital voluntary movements from swallowing to walking. SYMPTOMS Some symptoms include hand tremor, muscle spasms, rigidity, lack of postural stability, memory loss, blurriness, drooling, and difficulty in voluntary movements.
  13. 13.  Rare metabolic autosomal recessive disorder  Affects protein breakdown in the liver resulting in mental retardation & genetic Mutation occurs on Chromosome 12  The mutated gene is supposed to code for a protein which produces phenylalanine hydroxylase  Without phenylalanine hydroxylase, phenylalanine (found in protein rich foods) cannot be converted to tyrosine  Excess phenylalanine in the body will result in mass production of phenylpyruvic acid  Phenylpyruvic acid cannot be absorbed by the kidney and thus excess phenylalanine and phenylpyruvic acid enters cerebrospinal fluid and then the brain causing severe mental retardation.
  14. 14. Unable to metabolize phenylalanine
  15. 15. • If Untreated in Infants: •Severe brain damage •Epilepsy •Behavioral Problems •Stunted growth •Symptoms Throughout Life if Treatment is not Followed Closely: •Musty body odor •Increased muscle tone •Fair skin •Vomiting •Active muscle tendon reflexes
  16. 16. •Due to the large amount of research done in Phenylketonuria patients can live a normal life while adhering to a strict protein-free diet •Research is still being done to determine if there is a better biochemical model for the effects of PKU on the body •If more detailed biochemical pathways of the effects of PKU can be determined there may be a method of introducing necessary chemical properties into the body, preventing some of the long term effects of PKU.
  17. 17.            Fatigue Pain Crisis Dactylitis and Arthritis Bacterial Infections Splenic Sequestration Lung and Heart Damage Leg Ulcers Aseptic Necrosis and Bone Infarcts Eye Damage Jaundice Acute Chest Syndrome
  18. 18. Treatments › Antibiotics › Pain-relieving Medications › Supplemental Oxygen › Blood Transfusions › Health maintenance starts with early diagnosis
  19. 19.  An inherited disease that affects sodium channels in the body and causes respiratory and digestive problems.
  20. 20.      There is no cure for Cystic Fibrosis and treatment can slow progression of the disease One in 25 people carry the gene but will have no symptoms CF is usually diagnosed at birth CF is not contagious CF occurs in males and females.
  21. 21.    Caused by genetic mutation in a single gene on chromosome 7. Gene contains building info for CFTR(Cystic fibrosis transmembrane conductance regulator (CFTR) is a protein that in humans is encoded by the CFTR gene.) Mutation causes a CFTR that won’t open.
  22. 22.    Excessive production of thick, sticky mucus in the airways Affects tissues in the airway, gastrointestinal tract, ducts of the pancreas, the bile ducts of the liver, and the male urogenital tract Causes difficultly clearing infections and can result in lung damage over a period of time.
  23. 23.       Persistent cough, with great physical effort Some difficulty breathing Tiredness, lethargy or an impaired exercise ability Frequent visits to the toilet Salt loss in hot weather which may produce muscle cramps or weakness Poor appetite.
  24. 24.         Chest physiotherapy Antibiotics Inhalations via a compressed air pump and nebuliser Enzyme replacement capsules with meals and snacks A well balanced diet high in protein, fat and kilojoules Supplementary vitamins Salt supplements Regular exercise.
  25. 25.  Down syndrome is caused by an extra chromosome present on chromosome 21 › Down syndrome is caused by mutations › Forms of Down syndrome  Klinefelter’s disease(Klinefelter syndrome, also known as the XXY condition, is a term used to describe males who have an extra X chromosome in most of their cells. )  Turner’s syndrome(Turner syndrome is a chromosomal condition related to the X chromosome that alters development in females.It leads to infertility,webbed neck,lymphedema, skeletal abnormalities, heart defects and kidney problems.)
  26. 26.      Philadelphia chromosome (Philadelphia chromosome or Philadelphia translocation is a specific chromosomal abnormality that is associated with chronic myelogenous leukemia (CML). It is the result of a reciprocal translocation between chromosome 9 and 22,) › A genetic form of Down syndrome: Mosaicism:Mosaicism is a condition in which cells within the same person have a different genetic makeup. This condition can affect any type of cell, including: Blood cells Egg and sperm cells (gametes) Skin cells
  27. 27.       There is no single, standard treatment for Down syndrome. Treatments are based on each individual's physical and intellectual needs as well as his or her personal strengths and limitations. Treatment Therapies Physical therapy includes activities and exercises that help build motor skills, increase muscle strength, and improve posture and balance. Speech-language therapy can help children with Down syndrome improve their communication skills and use language more effectively. Occupational therapy helps find ways to adjust everyday tasks and conditions to match a person's needs and abilities. Emotional and behavioral therapies work to find useful responses to both desirable and undesirable behaviors.
  28. 28.    Alzheimers is a form of dementia that causes changes in the brain, and affects a person’s memory, mood, and behavior. Disease mostly affects people over 65. Diagnosis: › 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. › Brain scan.
  29. 29.    Severe combined immunodeficiency (SCID) represents a group of rare, sometimes fatal, congenital disorders characterized by little or no immune response. The defining feature of SCID, commonly known as "bubble boy" disease, is a defect in the specialized white blood cells (Band T-lymphocytes) that defend us from infection by viruses, bacteria and fungi. Without a functional immune system, SCID patients are susceptible to recurrent infections such as pneumonia, meningitis and chicken pox, and can die before the first year of life. Though invasive, new treatments such as bone marrow and stem-cell transplantation save as many as 80% of SCID patients. All forms of SCID are inherited, with as many as half of SCID cases linked to the X chromosome, passed on by the mother. It is also known as the bubble boy disease because its victims are extremely vulnerable to infectious diseases and some of them, such as David Vetter, become famous for living in a sterile environment.
  30. 30.        X-linked severe combined immunodeficiency Adenosine deaminase deficiency Purine nucleoside phosphorylase deficiency Reticular dysgenesis Omenn syndrome Bare lymphocyte syndrome JAK3{Janus Kinase-3}
  31. 31.   The most common treatment for SCID is bone marrow transplantation. David Vetter, the original "bubble boy", had one of the first transplantations, but eventually died because of an unscreened virus, EpsteinBarr (tests were not available at the time), in his newly transplanted bone marrow from his sister, an unmatched bone marrow donor.
  32. 32.    Severe disorder from an array of the Autism Spectrum Disorders (ASD) Another common form of ASD is Asperger Syndrome Developmental disorder affects parts of brain, notably the amygdala {are almond-shaped groups of nuclei located deep and medially within the temporal lobes of the brain}, hippocampus{plays important roles in the consolidation of information from short-term memory to long-term memory},and cerebellum › immune system, and gastrointestinal tract   1 out of 150 people are affected More prevalent in males than in females.
  33. 33. difficulties with social interaction problems with verbal and nonverbal communication repetitive behaviors or narrow, obsessive interests behaviors can range in impact from mild to disabling.
  34. 34.  Complex,polygenic and multifactoral › Highly heritable › Gene-environment interaction  Vaccines.
  35. 35.  Stem Cells  Gene Therapies  Advanced IVF Techniques  Therapeutic Cloning
  36. 36. •Stem cell collected from adult can be harvested from many area including the bone marrow. •Alternative to Embryonic Stem cells •Potential to reverse and cure Diabetes
  37. 37. •Use undifferentiated cell from embryos and cultures them to grow into need cells •Many ethical and social concerns surrounding this research •Neurons Grown from Embryonic Stem Cells Restore Function in Paralyzed Rats •Hold potential cures for 1000s of diseases many genetic disorders.
  38. 38. •This treatment is aimed at women who would pass on a genetic defect to the child. •Also helps women who suffer with mitochondria disease. •Faulty genes are removed from the embryo , and replaced by healthy genes from the additional woman.
  39. 39. •Using stem cells to replace or create tissues and organs •Currently heart tissues and full bladders are being grow in lab Fig. Stem cell treatments and tissues recreated in the heart of a child

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