Remake of Genetic Disorders by Cynthia Appelbaum https://padlet.com/cappelbaum/guuxyfwz3j7c Dominant vs. Recessive Occurrence rate, cause, effect, cure treatment, chromosome/gene (Pictures and videos encouraged!!!) en-us 2018-02-22 15:40:41 UTC 2018-02-22 16:21:49 UTC hello@padlet.com Tay-sachs https://padlet.com/cappelbaum/guuxyfwz3j7c/wish/234293964 Chris, Jake, and Belle
Tay-sachs is a disease caused by a defective gene in chromosome 15 which causes the body to not be able to produce hexosaminidase A. Because of this,  a disorder that destroys nerve cells in the brain and spinal cord. There is no known cure for Tay-sachs, but there are that can help manage symptoms. Tay-sachs can only occur when there are are two recessive alleles ergo making it an autosomal recessive disorder.
Defective Gene on Chromosome 15
]]> 2018-02-22 15:53:14 UTC https://padlet.com/cappelbaum/guuxyfwz3j7c/wish/234293964 Albinism madison_stewart3 https://padlet.com/cappelbaum/guuxyfwz3j7c/wish/234294220 Madison Stewart

Albinism in humans is a congenital disorder characterized by the complete or partial absence of pigment in the skin, hair and eyes.

Dominant vs. Recessive Occurrence rate:  Autosomal Recessive Inheritance. Fewer than 20,000 US cases per year. 

Cause and Effect: A defect in one of several genes that produce or distribute melanin causes albinism. The defect may result in the absence of melanin production, or a reduced amount of melanin production. The defective gene passes down from both parents to the child and causes albinism

Cure Treatment: There is no cure for albinism. Treatment for albinism can relieve symptoms and prevent sun damage. Treatment includes: 
  • sunglasses to protect the eyes from UV rays
  • protective clothing and sunscreen to protect the skin from UV rays
  • prescription eyeglasses to correct vision problems
  • surgery on the muscles of the eyes to correct abnormal eye movements

People with this disorder or sometimes known as albino, however this is not politically correct to say.

Credit:
]]> 2018-02-22 15:53:35 UTC https://padlet.com/cappelbaum/guuxyfwz3j7c/wish/234294220 Achondroplasia https://padlet.com/cappelbaum/guuxyfwz3j7c/wish/234294458 Paige and Grace

Dominant vs. Recessive: Autosomal Dominant
 
Occurance Rate:  1 in 15000 to 40000 newborns worldwide
cause: a mutation in in fibroblast growth factor receptor

effect: negative regulatory effect on bone growth and causes dwarfism

Cure treatment: no known cure however limb lengthening surgery will lengthen the legs and arms and you can use growth hormone therapy

Chromosome/gene: mutation in FGFR3 gene]]> 2018-02-22 15:53:57 UTC https://padlet.com/cappelbaum/guuxyfwz3j7c/wish/234294458 Gaucher Disease https://padlet.com/cappelbaum/guuxyfwz3j7c/wish/234294524 Autumn, Hannah, Michael

- Recessive Occurrence
- Occurrence Rate: 1 in 50,000 to 1 in 100,000
- Cause: An inherited disease most common in Jewish people of Eastern and Central European descent. It results in the buildup of certain fatty substances in certain organs and it is caused by changes (mutations) in a single gene called GBA.
-Effect/ Symptoms: Spleen and liver enlargement, low platelet count, bleeding and clotting problems, anemia, fatigue, and respiratory problems.
- Cure treatment: Enzyme Replacement Therapy (ERT), Substrate Reduction Therapy (SRT).
- Chromosome: Mutations in the GBA gene.]]> 2018-02-22 15:54:02 UTC https://padlet.com/cappelbaum/guuxyfwz3j7c/wish/234294524 Cystic Fibrosis - an inherited disease caused by secretory glands, which build up thick mucus and sweat hannah_luong https://padlet.com/cappelbaum/guuxyfwz3j7c/wish/234294601
  • Lizbeth, Abby, and Hannah L
    • -found in about 30,000 people in the U.S.
    - Cure Treatment:  There is no cure for Cystic Fibrosis, but treatment can help such as clearing airway techniques, medications, therapies on nutrition, etc.
    - Recessive Autosomal
     If you have one copy of the faulty allele, you carry it, but show no symptoms. However, if two organisms carry the allele and they produce offspring, the offspring has a 1 in 4 chance in having the disorder
    - Cause: The movement of salt and water that goes in and out of our body cells become thick, sticky mucus
    - Effects: Higher risk of lung infection, mucus buildup
    -Chromosome/Gene: It is caused by changes made on chromosome 7
    Image of how CF affects you
    https://www.nhlbi.nih.gov/health-topics/cystic-fibrosis
    ]]>     2018-02-22 15:54:06 UTC https://padlet.com/cappelbaum/guuxyfwz3j7c/wish/234294601     Hereditary Fructose Intolerance https://padlet.com/cappelbaum/guuxyfwz3j7c/wish/234294741 Rowan, John, and Tim
    -HFI is an autosomal recessive disorder
    -The deficiency is caused by a lack of the enzyme Adalase-b, which causes a buildup of fructose in body tissues, leading to liver and kidney damage
    -Treatment involves eliminating fructose and glucose from the diet
    -The mutation is located at the ALDOB gene on Chromosome 9
    -It affects 1 in every 20,000 to 30,000 individuals each year worldwide]]>     2018-02-22 15:54:15 UTC https://padlet.com/cappelbaum/guuxyfwz3j7c/wish/234294741     Marfan's Syndrome https://padlet.com/cappelbaum/guuxyfwz3j7c/wish/234295035 Ryan
    -Dominant autosomal 
    -1/5,000 people affected
    -caused by a mutation in the gene controlling how the body makes fibrillin.
    -causes lack of strength in connective tissues, effecting bones, eyes, lungs, skin, and nervous system.
    -treated through medication to keep low blood pressure, surgery, and eyeglasses/contacts.
    -FBN1 gene]]>     2018-02-22 15:54:38 UTC https://padlet.com/cappelbaum/guuxyfwz3j7c/wish/234295035     Huntington's https://padlet.com/cappelbaum/guuxyfwz3j7c/wish/234295594 Anna, Taylor, Libby
    ~ Huntington's is an inherited condition in which nerve cells in the brain break down over time.
    ~ Huntington's is a autosomal dominant disorder
    ~ It affects 3 to 7 European people for every 100,000  (it's less common in other populations)
    ~ Symptoms include cognitive issues such as delusion and lack of concentration, muscular issues like involuntary muscle movement, and psychological issues like hallucination and paranoia
    ~ Cure is not yet available for it but you can take medication and do therapy that helps
    ~  4p16.3 meaning it is on the fourth chromosome at position 16.3
    ~

     


    ]]>     2018-02-22 15:55:24 UTC https://padlet.com/cappelbaum/guuxyfwz3j7c/wish/234295594     Galactosemia https://padlet.com/cappelbaum/guuxyfwz3j7c/wish/234295676 Jaime and Ani 

    -Galactosemia is a rare genetic metabolic disorder where one cannot metabolize the sugar galactose properly.
    -There are different types of galactosemia, classic and type II.
    -Three out of four infants will die if left untreated
    -There is no cure, only a treatment which reduces the side effects
    -1 out of every 30,000 people are born with this disorder
    -galactosemia causes liver, brain, and eye issues. It also causes people's white blood cells to stop working properly, which can lead to bad infections. It also causes speech and mental problems earlier in life. It can cause yellowing of the skin and eyes.
    -compound heterozygous
    -mutation of GALT; 606999
    -you're born without your GALT working
    -symptoms: yellowing of the skin and eyes, problem with milk, lethargy
    -people with the disease can't drink milk

    ]]>     2018-02-22 15:55:31 UTC https://padlet.com/cappelbaum/guuxyfwz3j7c/wish/234295676     Hemophilia https://padlet.com/cappelbaum/guuxyfwz3j7c/wish/234297128 Luis Sanchez and Liem Au

    Hemophilia is recissive trair

    Occurrence Rate: 1 in 5000 male births

    Cause: There is a gene mutation that occurs because blood clotting is impaired

    Effect: Blood does not clot normally leading to excessive bleeding

    Cure/Treatment: Treated by injections of a clotting factor or plasma

    Chromosome/Gene: Found in the X chromosome resulting in it being more common in males



    ]]>     2018-02-22 15:57:39 UTC https://padlet.com/cappelbaum/guuxyfwz3j7c/wish/234297128     Sickle Cell andre_lester https://padlet.com/cappelbaum/guuxyfwz3j7c/wish/234299051 Andre Lester

    Autosomal recessive. It is caused in a small amount of cases from the acquisition of a hemoglobin S gene from one parent, but a regular hemoglobin gene from the other. This causes what is know as Sickle Cell Trait, and a small amount of people with this trait will be negatively affected. Symptoms will usually begin to appear at about five or six months of age. The symptoms are usually: jaundice, swelling of the hands and feet, acute pain in the body, and anemia.   Sickle Cell has no real treatment itself, but it is strongly recommended that children suffering from it should get all possible vaccinations in order to  reduce the rick of infection and complication. The hemoglobin-beta gene is on chromosome eleven ]]>     2018-02-22 16:00:14 UTC https://padlet.com/cappelbaum/guuxyfwz3j7c/wish/234299051     https://padlet.com/cappelbaum/guuxyfwz3j7c/wish/234299947 2018-02-22 16:01:31 UTC https://padlet.com/cappelbaum/guuxyfwz3j7c/wish/234299947 Pyruvate Dehydrogenase Deficiency https://padlet.com/cappelbaum/guuxyfwz3j7c/wish/234301501 Sam and Raven
    Causes: Pyruvate Dehydrogenase is caused by a life threatening build up of lactic/pyruvate acid
    Effects: This build up can cause vomiting, nausea, and severe breathing problems
    Cure/Treatment: Stimulating the Pyruvate dehydrogenase complex
    Dominant/recessive: Pyruvate dehydrogenase deficiency is autosomal recessive

    ]]>     2018-02-22 16:03:50 UTC https://padlet.com/cappelbaum/guuxyfwz3j7c/wish/234301501     https://padlet.com/cappelbaum/guuxyfwz3j7c/wish/234306903 2018-02-22 16:11:11 UTC https://padlet.com/cappelbaum/guuxyfwz3j7c/wish/234306903 https://padlet.com/cappelbaum/guuxyfwz3j7c/wish/234306968 2018-02-22 16:11:15 UTC https://padlet.com/cappelbaum/guuxyfwz3j7c/wish/234306968 https://padlet.com/cappelbaum/guuxyfwz3j7c/wish/234307020 2018-02-22 16:11:19 UTC https://padlet.com/cappelbaum/guuxyfwz3j7c/wish/234307020