Rubberous Sclerosis Research Paper

Improved Essays
Tuberous sclerosis (tuberous sclerosis complex TSC) is a genetic disorder that begins developing in the embryonic phase. Parents carrying the gene have a 50 percent chance of passing the condition on to offspring. Affected individuals carry only one gene inherited in an autosomal dominant manner.
There are two known genes associated with TSC. When a copy of one of the two genes is altered, tumors and abnormal tissues grow through the body. Families with a history of TSC, whether parents are showing signs of the disease or not need to be tested. There are instances where a parent has no idea they are a carrier. Although genetic testing may confirm the presence of the mutated gene, exact predictions about the disease or its severity is

Related Documents

  • Improved Essays

    Pt1420 Exercise 1

    • 742 Words
    • 3 Pages

    18. Name three diseases that can be tested for. Most current tests detect mutations associated with rare genetic disorders that follow Mendelian inheritance patterns. These include myotonic and Duchenne muscular dystrophies, cystic fibrosis, neurofibromatosis type 1, sickle cell anemia, and Huntington’s disease. 19.…

    • 742 Words
    • 3 Pages
    Improved Essays
  • Superior Essays

    Tay-Sachs is a biological phenomenon, which tends to only occur in certain populations. Three of the most common populations in which it occurs are Ashkenazi Jews, French Canadians, and Louisiana Cajuns. Tay-Sachs is an autosomal recessive pattern that is inherited through both sides of the parents (“Tay-Sachs Disease” 5). An autosomal recessive pattern occurs when “both copies of the gene in each cell have mutations (“Tay-Sachs Disease” 3). While each parent much carry one copy of the mutated gene, they characteristically do not show any signs of Tay-Sachs (“Tay-Sachs Disease” 2).…

    • 2194 Words
    • 9 Pages
    Superior Essays
  • Decent Essays

    COLUMN 2: Behind Column 2

    • 571 Words
    • 3 Pages

    Since this disorder is known in Africa, scientists believe that this disorder is caused by the Epstein-Barr virus in children with immune systems weakened by chronic malaria, which is popular in Africa. This is what causes the chromosomal mutation of translocation. Are there prenatal tests for this disorder? You can get a bone marrow biopsy, chest x-ray, and CT scan of the chest.…

    • 571 Words
    • 3 Pages
    Decent Essays
  • Improved Essays

    Tay-Sachs disease is a extraordinary inherited disorder that progressively destroys nerve cells (neurons) in the brain and spinal cord. The most known form of Tay-Sachs disease becomes visible in infancy. Infants that are born with this disorder typically seem normal until they turn 3 to 6 months, when their advancement slows and muscles used for movement weaken. Affected infants aren't able to use their motor skills such as turning over, sitting, and crawling. They also develop an strong startle reaction to loud noises.…

    • 471 Words
    • 2 Pages
    Improved Essays
  • Improved Essays

    Alpha 1 Research Paper

    • 639 Words
    • 3 Pages

    Most people have two normal copies of the alpha-1 antitrypsin gene. But individuals with AATD have one normal copy and one damaged copy, or they have two damaged copies. A child must inherit one abnormal gene from each parent to develop the disease. If a child inherits a normal gene from one parent and an abnormal gene from the other, he or she will only be a carrier. Carriers produce lower-than-normal levels of the alpha-1 antitrypsin protein, but they still have enough of it to protect their lungs.…

    • 639 Words
    • 3 Pages
    Improved Essays
  • Improved Essays

    Tay Sachs Disease

    • 403 Words
    • 2 Pages

    Tay - Sachs disease is inherited in an autosomal recessive pattern , this means the two alleles in each cell are mutated. The parents of an individual with an autosomal recessive condition each possess one copy of the mutant allele and are unaffected heterozygous carriers. Tay - Sachs disease deteriorates neurons in the brain and spinal cord. The most common form of Tay - Sachs disease is evident in infancy. Infants who inherit the disorder generally appear unaffected until the age of 3 to 6 months, at this stage their rate of development decreases and skeletal muscles weaken.…

    • 403 Words
    • 2 Pages
    Improved Essays
  • Improved Essays

    Treacher Collins is a genetic disease that is passed through either a mutation happening when the DNA is being split or one of the parents has the gene in their DNA. There is no cure for Treacher Collins right now. Treacher Collins affects the cranial aspect of the upper body. In some extreme cases, breathing and eating ways are affected so much that the child has to have a trach put in to help it breath normally. A feeding tube is put in so the child can get the nutrients and substance that it needs to live.…

    • 1043 Words
    • 5 Pages
    Improved Essays
  • Improved Essays

    Additional testing may be necessary to determine the direct source of the mutated gene. Determining whether the mother or the father is the host of the mutated genome source can prove to be rather critical to further determine the severity of the child’s…

    • 657 Words
    • 3 Pages
    Improved Essays
  • Great Essays

    Some patients have a genetic predisposition to developing the disease. Other…

    • 1447 Words
    • 6 Pages
    Great Essays
  • Improved Essays

    This is how cystic fibrosis is inherited and the tools used to test for…

    • 614 Words
    • 3 Pages
    Improved Essays
  • Improved Essays

    ichael explains his case in a creative way. He has Down syndrome when the chromosomes came to make him, a normal chromosome broke, the broken piece moved and struck onto another chromosome. Its called spontaneous translocation. No one knows why this happens or how to prevent it. He starts to talk like how he is like everyone else.…

    • 642 Words
    • 3 Pages
    Improved Essays
  • Great Essays

    A person may carry the CF gene but not develop the condition, this is because the gene must be present in both parents for the child to develop CF. When both parents carry the CF gene there is a 25% chance of the child developing CF. There is also a 50% chance of the child carrying the gene (Cystic Fibrosis Trust UK, 2014). Although everyone who has CF is born with it, they may not be diagnosed until later in life. Since 2011 in the Republic of Ireland, CF has been included in the new-born blood spot screen test, which is more commonly known as the heel prick test (Cystic Fibrosis Ireland, 2014).…

    • 2133 Words
    • 9 Pages
    Great Essays
  • Improved Essays

    The human body is unarguably impressive. From microscopic cells working in unison, to large life-providing organs that function involuntary, the anatomy is awe-inspiring. Every aspect has a purpose, and consequently the design of the tissue or organ system is the result of form following function. As a result, when an anatomical aspect deviates from its intended shape or composition, the effect can prove detrimental. This occurrence is especially caustic in regards to the respiratory system, which is paramount for staying alive.…

    • 888 Words
    • 4 Pages
    Improved Essays
  • Improved Essays

    PDAC biomarker identification and validation. Biomarkers in ex vivo expanded CTCs will be recognized by stringent statistical analysis and subjected to further characterization in three studies. First, we will confirm the association of biomarkers with CTCs and CTC-PDX models. Second, the biomarkers will be validated for correlation with clinical PDAC metastasis and therapeutic resistance. Finally, we will retrospectively test the application of selected biomarkers in PDAC diagnosis, treatment evaluation and disease prognosis.…

    • 1048 Words
    • 4 Pages
    Improved Essays
  • Improved Essays

    If an individual is suspected of displaying physical signs and symptoms of a disease or condition, a genetic test could confirm it. While some family members may seem unaffected by a genetic abnormality, a test could identify reproductive or psychosocial implications, putting the unaffected members at a higher risk of developing the disease. Diagnostic testing is suitable for all ages and can be performed at birth or any time during life, though it could alter their health care choices and medical…

    • 1049 Words
    • 5 Pages
    Improved Essays