...A genetic disorder is a disease that is caused by an abnormality in an individual’s DNA. Abnormalities can range from small mutation in a single gene to the addition or subtraction of an entire chromosome or set of chromosomes. Most disorders are rather rare and effect one person in every several thousands or millions. Three examples of genetic disorders are Down syndrome, Turner syndrome, and Breast/Ovarian cancer. Down syndrome, also called Trisomy 21, is a developmental disorder which is caused by an extra copy of chromosomes 21. It is named after John Langdon Down who is a British physician who described the syndrome in 1866 (Living With Down Syndrome). The extra genetic material causes delays in the way a child develops, both mentally and physically. The physical features and medical problems associated with Down syndrome can vary widely from child to child. While some children with Down syndrome need a lot of medical attention, others have healthy lives. Children with the disorder tend to share certain physical features such as a flat facial profile, upward slant of the eyes, small ears, and a protruding tongue. Although some children with DS have no significant health problems, others may experience some medical issues that require extra care. One medical issue is pulmonary hypertension which is a serious condition that can lead to untreatable damage to the lungs. To detect this issue all infants should be evaluated by a pediatric cardiologist. Two other medical issues...
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...syndrome (AS) is a neurodevelopmental disorder characterized by severe intellectual and developmental disability, sleep disturbance, seizures, jerky movements (especially hand-flapping), frequent laughter or smiling, and usually a happy demeanor. AS is a classic example of genomic imprinting in that it is caused by deletion or inactivation of genes on the maternally inherited chromosome 15 while the paternal copy, which may be of normal sequence, is imprinted and therefore silenced. The sister syndrome, Prader–Willi syndrome, is caused by a similar loss of paternally inherited genes and maternal imprinting. AS is named after a British pediatrician, Harry Angelman, who first described the syndrome in 1965.[1] An older, alternative term for AS, "happy puppet syndrome", is generally considered pejorative and stigmatizing so it is no longer the accepted term. People with AS are sometimes referred to as "angels", both because of the syndrome's name and because of their youthful, happy appearance Charcot–Marie–Tooth disease Charcot–Marie–Tooth disease (CMT), also known as Charcot–Marie–Tooth neuropathy and peroneal muscular atrophy is one of the hereditary motor and sensory neuropathies, a group of varied inherited disorders of theperipheral nervous system characterised by progressive loss of muscle tissue and touch sensation across various parts of the body. Currently incurable, this disease is the most commonly inherited neurological disorder, and affects approximately 1 in 2...
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...Tay-Sachs Disease Foreword: Before beginning to read this review of the case study, please note that current events of today pertain more to preconception screening for genetic anomalies and genetic studies. Today due to preconception genetic screening many parents opt to terminate a fetus with fatal or painful anomalies; therefore a large portion of the research for parents who are expecting a child with Tay Sachs Disease was noted to be during an approximate 30 year span from the mid-1950’s to the early-mid 1980’s, thus older citings will be noted. “Tay-Sachs parents say that their child dies three times—when the disease is diagnosed, when the child enters the hospital, and the final time.” (Atwater, 1964) “How do you parent without a net, without a future, knowing that you will lose your child, bit by torturous bit?” (Rapp, 2011) Will it be a boy or a girl? What color will the eyes, the hair be? Whose smile will the baby have? These are just a few of the many questions that begin when parents find out they have conceived a child, and most of the time the questions only grow as the pregnancy progresses too; what will they want to be when they grow up? Who will they look like? Will they be strong, graceful, independent, or determined? Should we look at preschools and colleges now? It may not seem to occur very often that parents will say to themselves; we never thought about how we might parent a child without a future. Now instead of questions that may focus on the...
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...Genetic disorders are an unfortunate but real part of human life. There are thousands of genetic disorders in the world, some more common than others. Genetic disorders may vary in regards to manifestations in people from age, gender, health, population, and many more factors. For example, there are X-linked disorders which are carried by women and present mostly in males, such as color blindness. There are also disorders which are much more prevalent in men such as color blindness, and disease much more evident in African Americans such as sickle cell anemia. However, what all genetic disorders have in common is that they are born at the cell level and derived from genetic mutations. There are some genetic disorders which require intense treatment,...
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...Genetic Disorder Paper Huntington's Disease is Genetic disorder meaning its inherited from parent to child. There are many genetic disorders most are recessive which means it has to be from both parents, but Huntington's Disease is Dominant so it only takes one parent to pass it on. A key reason that most disorders are recessive is because they just make life harder to live not all just kill you. Most dominant disorders just straight up kill you and there's nothing you can do. So right now your probably thinking "well then how does it get passed down shouldn?t it of died out by now if all the carries just die?" And here is the inconvenient problem, signs and symptoms of the normal disease don?t start to show until late 30's or early 40's, and...
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...Genetics is the study and the variation of inherited characteristics that make up a life. Every child inherits genes from both of their biological parents. Some of these traits may be physical; hair, eye color or skin colors, etc. The wonderful thing about genetics is the technology that has been made for it and how advanced it is to now do what ever it takes to fix the unborn. Each gene has its own piece of genetic information and DNA in the cell make up the human. Heredity genes is a biological process where a parent passes certain genes onto their children or offspring's which all falls under the study of genetics. Genes are rested inside the chromosomes in the human body. Some of these genes that are passed on can cause human genetic disorder. Human Genetic Disorder is an illness which is caused by chromosomes or genes abnormalities. Some disorders like the sickle cell trait disease are in part of genetic disorders. Other diseases like cancer are also caused by genetic disorders, but can also be caused by environmental factors. Most disorders are very rare and they affect only one person in a million. There are some types of recessive gene disorders which have an...
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...Sickle cell anemia is the most prevalent genetic disorder in the United States, which falls under the broad term of sickle cell disease. This term is frequently used to describe a group of chronic hemolytic anemias (Falvo and Holland, 2014; National Human Genome Research Institute, 2016). Chronic hemolytic anemias, or SCA is an inherited disorder characterized by abnormal hemoglobin caused by a recessive allele that changes its structure (Falvo and Holland, 2014). An individual can inherit two sickle cell genes (one from each parent) or a sickle cell gene in combination with another abnormal gene that causes this change within their red blood cells. A normal hemoglobin molecule is biconcave shaped which allows red blood cells to flow easily...
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...BIO340 Recitation 9/5/14 Dr. Steele In the article, “5 Disorders Share Genetic Risk Factors, Study Finds”, Dr. Jordan Smollar, a professor of psychiatry at Harvard Medical School, discovered two abnormalities in one of his recent studies concerning mental illness and their genetic connections within the human brain. This study consisted of over 60,000 people worldwide to further strengthen his research quantitatively. Through the massive testing, Dr. Smollar believes he had found a connection between 5 mental disorders (schizophrenia, bipolar disorder, autism, major depression, and attention deficit disorder) all with some sort of underlying relation with one another in the genetic “glitches” they share, 2 of which concerning a major signaling system in the brain. Efforts began in 2007 and so investigative data from 19 countries of people’s DNA, with 33,332 people with psychiatric illness while studying 27,888 people who were free of the illness was collected. Researchers came to find overlapping genetic effects in identical twins, which further solidified the possible connections previously discussed. They had found 4 DNA regions that conferred a risk of psychiatric disorders. However, in 2 of the 4 regions, it was not clear what the genes were involved in doing. The other 2 genes were calcium channels. Calcium channels are used when neurons send signals to function our brains. Certain drugs prescribed by medical professionals are used to block calcium...
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...psychological disorders and their causes is very recent, despite the anguish it has brought to people since the beginning of time. One of the most prevalent disorders is Generalized Anxiety Disorder (GAD). According to the Anxiety and Depression Association of America, as of 2015, “GAD affects 6.8 million adults, or 3.1% of the U.S. population. . .” The causes of this and other anxiety disorders is an ongoing debate between psychologists, known as the nature versus nurture debate. Nature refers to one’s hereditary predisposition, meaning the genes passed down from your parents. Anxiety has been proven to be passed down from parent to child, but some psychologists argue that these genes do not become active until stimulated by some external event, such as the loss of a loved one, or another major life trauma. These external events and how one is raised is referred to as “nurture.” Because of this hand-in-hand relationship, generalized anxiety disorder stems from the coherence of one’s genetic predisposition as well as their environment and traumas they experience in their lifetime. The acceptance of this conclusion between psychologists and physicians will lead to the development of more targeting treatments and will give patients the peace of mind in knowing that their disorder is not because they have done something wrong. Generalized apprehensiveness disorder is characterized by sedulously assiduous, exorbitant, and fictitious worry about everyday things. People with the disorder, which...
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...Hemophilia There are hundreds of different genetic disorders. Hemophilia is a sex- Linked disorder that affects the way a person’s blood clots. A sex-linked disorder has to do with the XX chromosomes of the mother and the XY chromosomes of the father. These genes have more functions than just identifying the sex of the person. Sometimes there are genetic mutations to these genes or certain traits that are passed down from parent to child. When a normal healthy person gets injured there blood clots or thickens so that they will stop bleeding and make a scab to protect the wound and begin the healing proses. Platelets are tiny elements made in the marrow of your bones. They flow though the blood stream waiting for bleeding to occur. After the body detects bleeding, it floods the damaged area with platelets. These platelets go through a chemical reaction that makes the outside of the sticky. They begin to stick to the damaged area and each other. This forms what is known as a white clot. The second thing that happens in the blood clotting procedure is many blood proteins in the thrombin system get activated when the body detects bleeding. When these proteins are activated they go through many chemical reactions to produce fibrin. Fibrin is a sticky string like substance that covers the wound in a Genetic Disorder 3 Web-like pattern. This is how a red clot forms. The web like design traps many red blood cells in it and that’s how it gets its red color. When someone...
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...According to The Huntington's Disease Society of America Huntington's disease is an inherited disorder that results in the progressive loss of both mental facilities and physical control. The symptoms of Huntington's disease can range anywhere from behavioral issues such as mood swings or a total change of personality to loss of coordination or even trouble swallowing. “Huntington's disease is caused by inheriting a mutation in The HTT gene” (Genetics Home Reference). At this point in time there is no cure for Huntington's but there has been some progress in slowing down the disease. “People who are diagnosed with Huntington's disease don’t usually have any signs or symptoms until they are between the ages of thirty to fifty” (HDSA.org). In some very rare cases the symptoms can start in childhood. This type of the disease progresses much faster and the teenager or child who gets it usually only lives ten to fifteen years after being diagnosed. “In the early stages of Huntington's the most common symptoms are poor memory, depression, lack of coordination, and...
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... 2014 southeastern college Abstract Marfan syndrome is a genetic disorder that affects the body’s connective tissue. Connective tissue holds all the body’s cells, organs and tissue together. It also plays an important role in helping the body grow and develop properly. About 1 in 5,000 people have Marfan syndrome, including men and women of all races and ethnic groups. There is no cure for Marfan syndrome. To develop one, scientists may have to identify and change the specific gene responsible for the disorder before birth and medical research has not yet evolved to the point of cure. People with Marfan tend to be unusually tall, with long limbs and long, thin fingers. Marfan syndrome has various expressions ranging from mild to severe: the most serious complications are defects of the heart valves and aorta. Additionally, it may affect the lungs, eyes, dural sac surrounding the spinal cord, the skeleton, and the hard palate. This makes it very important for people with Marfan syndrome and related disorders to receive accurate, early diagnosis and treatment. Without it, they can be at risk for potentially life-threatening complications. The earlier some treatments are started, the better the outcomes are likely to be. The appropriate specialists will develop an individualized treatment program; the approach the doctor’s use depends on which systems have been affected. Marfan syndrome is a genetic disorder that affects the body’s connective tissue. Connective tissue holds...
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...Huntington’s disorder is an inherited, degenerative disease that destroys brain cells. It primarily affects the caudate, the putamen, and further on in the disease, the cerebral cortex. It is quite uncommon, as roughly only 30 000 people who live in America display its symptoms. Individuals with this disease experience difficulty with processing emotion, and aren’t able to process movement as quickly. They also begin to forget things they once knew. This essay will include the research of this disorder from its specific symptoms, its genetics and mutation, and finally, to the treatment for this genetic disorder. There are several symptoms that are associated with Huntington's Disorder. Regarding the onset of this disorder, it most commonly occurs between ages 35-44. However, there have been cases where children do start showing these symptoms. In the early stages, things like cognitive and physical skills start becoming difficult....
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...and deadly diseases. However, not everyone can say the last years of his or her life were even remotely close to healthy. Losing someone you love and care about to natural causes is sad enough as it is. Losing someone to a disease that progressively incapacitates your mental and physical capabilities is something entirely different. An example of such a malignant disorder is Huntington’s Disease, an inherited, degenerative brain disorder that is now diagnosed in 1 out of every 10,000 Americans. Huntington’s Disease Society of America is a voluntary, non-profit health organization dedicated to facilitate the lives of those who have inherited the disease by promoting and supporting scientific and medical research in hopes of developing a treatment or cure. The purpose of this report is to inform the community about the value and importance of the HDSA’s mission and goals and the impact it will have on the victims of this destructive brain disorder. What is Huntington’s Disease? Huntington’s Disease as defined by the Huntington’s Disease Society of America is “a devastating, hereditary, degenerative brain disorder…[that] slowly diminishes the affected individual's ability to walk, talk and reason.” Essentially, the victim loses capability of all motor skills and causes involuntary muscle movements, leaving them fully dependent of another person. Involuntary muscle movements are neurological abnormalities, meaning they have absolutely no control over any sort of muscle including...
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...P2- Explain the potential effects of five different life factors on the development of an individual. Biological influences before birth. The life choices a mother may chose may affect the health of their unborn baby. These choices could affect the development of their baby. Smoking before the birth of a child can affect their health and development. This is during and after pregnancy. Cigarettes contain nicotine. Once inhaled it runs straight through the bloodstream. A baby will use their mothers blood as a source of oxygen. Here they are then taking on board the nicotine. This means the baby’ heart rate will increase. It also increases the chance of a miscarriage and still birth. It also increases the chance of having a premature birth or and underweight baby. These choices are out of the baby’s control. These life factors change the development of and individual. What the mother eats can effect the development of a baby. It is vital a mother eats a variety of foods in order to gain all the nutrition needed and to get a good balance. High starch foods such as bread and pasta will provide a source of energy as these are carbohydrates. Eating things such as eggs and chicken will provide protein. This is vital the growth of muscles. Eating roughage such as cereals and grains will provide fibre keeping the digestion of food more easy and keep it flowing. It will also prevent constipation. Having a poor diet during pregnancy can cause damage to their child which is irreversible...
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