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Thursday, April 27

  1. page Huntington's 2 edited No work yet Huntington's disease Who discovered Huntington's disease, also known as HD? Geor…
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    Huntington's disease
    Who discovered Huntington's disease, also known as HD?
    George Huntington (1850-1916) in 1972 at age 22 identified chorea movements in some of his patients in the U.S. George was born into a family of doctors, after he graduated from Columbia in 1871 he saw a pattern in more cases. He then went back to some of his father and grandfathers old cases. He himself never got too far with the cases and really only ever found the patterns. In 1958-Americo Negrette Venezuelan physician observed similar subjects in the vicinity of Lake Maracaibo in Venezuela.
    work cited:
    http://www.mayoclinic.org/diseases-conditions/huntingtons-disease/basics/symptoms/con-20030685
    http://www.hopkinsmedicine.org/psychiatry/specialty_areas/huntingtons_disease/patient_family_resources/education_whatis.html
    https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3899480/
    http://www.alz.org/dementia/huntingtons-disease-symptoms.asp
    https://web.stanford.edu/group/hopes/cgi-bin/hopes_test/complications-of-huntingtons-disease/

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    10:15 am

Wednesday, April 26

  1. page Tay-Sachs2  edited No work yet Tay-Sachs How Was It Discovered? {Screen Shot 2017-04-25 at 10.06.23 PM.png} In…
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    Tay-Sachs
    How Was It Discovered?
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    In 1818, British ophthalmologist Warren Tay was observing a "cherry-red spot" in the retina of a 1-year-old
    child who suffered from mental and physical retardation. As time passed on another scientist, American neurologist
    Bernard Sachs began to observe "extreme swelling of neurons" within the autopsy tissue of affected children in 1896.
    Both scientists noted the same observations but not until the late 1930s would connections be made between the two.
    Both the "cherry-red spot" and the swelling were recognized as "ganglioside lipids". Ganglioside lipids were used to identify
    them due to the abnormal amount of brain lipid in normal (moderate) ganglion cells, which are brain cells.
    Effects of Tay-Sachs
    Tay-Sachs, leaning more on the fatal side due to its effects on the human body, usually only affects
    only infants. Tay-Sachs begins actually in the fetus early in pregnancy. Children may appear normal at first but as they
    get to either 3-6 months, signs start to become more visible. Motor skills are lost and development is very slowed down.
    Things such as turning over, crawling, sitting up, etc. can become a very big challenge for children affected with Tay-Sachs.
    Children can become very light and sound sensitive, being easily startled by anything. As it progresses and worsens, deafness
    and blindness can occur or even complete paralysis of the child's body. Some forms of Tay-Sachs are very rare
    though, with symptoms showing either in childhood, adolescence, or even adulthood. People who have this form of
    Tay-Sachs have much milder symptoms than the infants who carry the other form of Tay-Sachs. People who may carry
    this form of Tay-Sachs may have mental illnesses, movement impairment, muscle weakness, etc, though, they usually
    don't end in death. Infants who carry Tay-Sachs are most likely to pass away from the disorder in early childhood, making
    it much more fatal for infants who have Tay-Sachs rather than adults who have it as well, since the babies immune systems
    are very weak and are being broken down even more by the disorder.
    What is the Inheritance Patter of Tay-Sachs and What is Responsible for the Disorder?
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    The Inheritance Pattern of Tay-Sachs is an autosomal recessive pattern, meaning the parents of the affected child do carry a copy of the mutated gene although, they do not show symptoms. A mutation on chromosome 15, which codes for an enzyme called Hex-A, is what causes the disorder. If both Hex-A genes are inactive, there will be no help on preventing large buildups of the GM2 ganglioside lipids in the brain. Though, if one gene is active and one is inactive, the person is still considered healthy, but they are still considered a carrier of the mutated gene. If both parents of a child are carriers of the mutated gene, their children may end up with Tay-Sachs. It's given a 25% chance of the child ending up getting both mutated genes from the parents and ending up with the disorder and a 50% chance that the child will end up being a carrier.
    Is Tay-Sachs Common? If so, Where?
    Tay-Sachs is not very common around the world, though in certain regions such as Eastern
    and Central Europe, the genes that cause the mutation are more common. The
    {Screen Shot 2017-04-26 at 11.30.41 AM.png} people of Ashkenzi Jewish hertiage are among the people to more likely carry or have the disease than people of other heritage. Nearly every 1 in 30 Ashkenzi Jews are a carrier of the disease. The mutations are also common in the French-Canadian communites of Quebec, Old Older Amish community in Pennsylvania, and the Cajun poplulation of Louisianna. Also found is that people who are of Irish decent have a 1 in 50 chance of being a carrier while anyone outside of the ethnic groups have a 1 in 300 chance of being a carrier. There are no known environmental factors that cause the high chances of Tay-Sachs within certain ethnicities
    Diagnosis and Treatment
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    Blood tests can be done to measure a patients level of Hex-A due to people who carry the disease normally lack most of or all of this protein. They may also do eye examinations to see if they have the "cherry red spot"
    within their eye. A way to see if you are a carrier or a special partner is to get genetically tested prenatally if pregnant or normally if not. It is really heavily recommended to get genetically tested before pregnancy
    to see if your child may end up Tay-Sachs or any other genetic disease. Unfortunately, if a child is for with Tay-Sachs, there is no cure for it but there are treatments to soothe the symptoms such as controlling seizures.
    Also proper nutrition and hydration is used to help soothe them as well.
    SOURCES
    __https://ghr.nlm.nih.gov/condition/tay-sachs-disease#inheritance__
    __https://www.ncbi.nlm.nih.gov/pubmedhealth/PMHT0024672/__
    __https://www.genome.gov/10001220/__
    __https://www.thinkgenetic.com/diseases/tay-sachs-disease-8508/inheritance/42425__
    __https://my.clevelandclinic.org/health/articles/tay-sachs__
    http://www.diseaseinfosearch.org/Tay+Sachs+disease/7008

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    11:56 am

Tuesday, April 25

Sunday, April 23

  1. page Colorblindness2 edited What is colorblindness? Color blindness is a disorder in the eye that affects the cones and p…

    What is colorblindness?
    Color blindness is a disorder in the eye that affects the cones and prevents the person who has it from seeing certain colors.
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    What causes colorblindness?
    Colorblindness is when one of the types of cones in the person's eyes is defective. Cones are what we use to see color. We have three types of cones in our eyes one type for seeing green, one for red, and another for blue. When one of these types of cones is off it entirely shifts how the affected person sees colors. what causes this defect? the defect is caused by a recessive gene on the x chromosome.
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    The three types of colorblindness
    there are three types of colorblindness. these types are red colorblindness (Protanopia), green colorblindness (deuteranopia), blue colorblindness (protanopia), and total colorblindness, which is far more rare than the other three.
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    Who can be affected by colorblindness?
    Colorblindness affects 1 in every 12 males and 1 in every 200 females. Males are more likely to be colorblind because the gene that causes colorblindness is recessive on the x chromosome. This means that because men only have one x chromosome, they can't have another gene to prevent color blindness from showing in their phenotype. They either have colorblindness or they don't, women, however, can be a carrier for colorblindness. A carrier is someone who doesn't show a trait but can pass it on. While the majority of colorblind people are males, anyone can be colorblind.
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    what effects does color blindness have on someone with the disorder?
    Color blindness has no effects other than the way a person sees color. However, it can affect the simple daily life things we take for granted. For example, when driving it might be hard for a colorblind person to distinguish the difference between a red light and a green light. Colorblindness might not seem that bad to the majority of people but many small things in life become much more difficult without for
    someone who is colorblind.
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