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Case study on tay-sachs disease
Recent studies of tay sachs
Case study on tay-sachs disease
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Imagine that there is a disease that is terrible and causes trouble for you every day, there is no cure, there is only the dragging on of day after day. This is Tay Sachs Disease, it is a disease that is lifelong, that is, unless it kills you early on in life. This disease has lots of symptoms. These symptoms are a result of how the disease affects the brain and its functionality. This disease is an inherited disease, and is known as a serious genetic disease.(“Health and Wellness Resource center and Alternative Health Module”). This disease is a autosomally recessive disease that is caused by a defect in the HEXA gene which provides instructions for making part of an enzyme called beta hexosaminidase A, which is critical in the brain and spinal cord. (“Health and Wellness Resource center and Alternative Health Module”). This enzyme helps to break down GM2 or ganglioside, which without the enzyme to break it down, accumulates to toxic levels in the brain causing serious, life-threatening complications.(“Student Resources in Context Tay-Sachs “World of Health.Gale,2007.Student Resources in context.Web.22 May 2014”). Three type of this disease are Infant and Juvenile Tay Sachs, Chronic Tay Sachs, and L.O.T.S which is similar to chronic, but occurs later in life.(“Student Resources in Context Tay-Sachs “World of Health.Gale,2007.Student Resources in context.Web.22 May 2014”). Infant and Juvenile result in death while Chronic and L.O.T.S result in a life filled with muscular weakness, and trouble doing everyday activities.(“Health and Wellness Resource center and Alternative Health Module”). Tay Sachs can be spotted before the parents have children by either both admitting to a blood test or if they have a CVS, or Chorionic Villus ... ... middle of paper ... ... inhibit it or make it benefit the person that has it. Almost like genetic engineering in a way. Those who live suffer a fate worse than death, suffering in the life that they have. All in all, Tay Sachs disease is a lifelong terror that lurks in the shadows and strikes when we least expect it. Through studying and analyzing the causes, symptoms, forms, and the prognosis, it is possible for scientist to develop a form of a cure to allow those affected to live longer. It could also open doors to prevent the disease or even lessen the symptoms with those that already have it. All in all, Tay Sachs disease is a horrible and difficult disease to live with, but with all of the advances in genetic technology and engineering, it may be possible to synthesize a cure or an effective remedy to lessen the symptoms of those affected which can make their lives more bearable.
Tay-Sachs disease is a rare hereditary disease found mainly in infants but is also found in juveniles and adults. It is caused by the abnormal metabolism of fats and is characterized by mental deterioration, blindness, and paralysis. There is no available treatment for this disease.
Tay-Sachs disease is a rare and fatal genetic disorder that destroys neurons in the brain and spinal cord. The disease appears in three forms, Juvenile Onset, Late Onset (known as LOTS), and the most common form, Infantile (also known as Classic). The differences between the three forms of the disease are related to the age at which the symptoms of the disease begin to form. Tay-Sachs results from a deficiency of the enzyme hexosaminidase A, which plays a vital role in removing a fatty substance, called GM2 gangliosides, from neurons.
Tay-Sachs disease is a neurodegenerative disorder that is known to be genetically inherited. Both children and adults may suffer from this neurological disease, but it is most common in children (Percy, 1999). This disease causes abnormal brain development in individuals who are affected by this disease. This disease is known to get progressively worse, and unfortunately leads to death. Due to the rapid progression of this disease, the life expectancy is no more than five-six years of age due to complications related to the disorder (Percy, 1999).
Imagine if you loss control of your body but your mind stayed unaffected. You would be a prisoner in your own body, all leading up to your death sentence. That is the sad fate for the people diagnosed with Amyotrophic lateral sclerosis (ALS). “Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder was first described by Ran in 1850. This description was then expanded in 1873 by Charcot, who emphasized the involvement of the corticospinal tracts. In the United States, ALS is often referred to as Lou Gehrig's disease, after the famous ball player who was stricken by the disease in the midst of his career. (Yale School of Medicine, 2014)” In this paper will go through the definition, the process, the signs, the risk factors, etiology, and discus the known people that have suffered with this terminal disease.
In the book it says "They can spend a whole lifetime worrying whether they 're carriers, and then we come along and offer them a test. Recessives and X-linked. Look what they 're doing with fragile-X nowadays. And cystic fibrosis. Just imagine the commercial possibilities if you can design and patent a probe for something like Gaucher 's disease...(69)" Recessive traits is the phenotype is seen only a homozygous recessive genotype for the traits of the interest is present. The booked talked about two of three diseases that are most common in the Ashkenazi Jewish population. The first one is Cystic fibrosis which is an inherited life-threatening disorder that effects the lungs and the digestive system. The other one mention in the book that wasn’t mention in class was Gaucher 's disease. Gaucher 's disease is a build up of fatty substances in your organs, usually in you spleen and liver. Which causes them to become bigger affecting their function. The last one that we learned in class was Tay-Sachs disease, which is a rare inherited disorder that destroys nerve cells in the brain and spinal
Neurodegeneration is used mainly for diseases that are characterised by progressive loss of structure and function of neurons. There are many neurodegenerative diseases including amyotrophic lateral sclerosis that...
“The carrier rate for Tay-Sachs in the general population is 1/600” (OMIM). Sandhoff Disease is a rare genetic disorder, and it is a severe form of Tay-Sachs that progressively destroys cells in the brain and spinal cord. Since its discovery and analysis of inheritance, there have been advancements of its diagnosis, treatment, research, and its support resources for affected families. Those affected individuals lose motor skills and function of other body parts. As the disease progresses they experience seizures, vision/hearing loss, mental disability, paralysis, and a cherry red spot on the eye. This leads to loss of coordination, alertness, and respitory health. The disease has three forms infantile, juvenile, and late-onset. In infants symptoms usually begin at 6 months, and most don’t live past 3 years old. The juvenile and late-onset cases are mild compared to infants and the life expectancy varies. These mutated genes have many components that go into the evolution and complexity of Sandhoff’s existence.
In this paper, I will argue that genetic therapies should be allowed for diseases and disabilities that cause individuals pain, shorter life spans, and noticeable disadvantages in life. I believe this because everyone deserves to have the best starting place in life possible. That is, no one should be limited in their life due to diseases and disabilities that can be cured with genetic therapies. I will be basing my argument off the article “Gene Therapies and the Pursuit of a Better Human” by Sara Goering. One objection to genetic therapies is that removing disabilities and diseases might cause humans to lose sympathy towards others and their fragility (332).
Amyotrophic lateral sclerosis, also known as ALS or Lou Gehrig's disease, is a disease of the nerve cells in the brain and spinal cord that control voluntary muscle movement. Jean-Marie Charcot was the first to recognize ALS as a distinct neurological disease with its own unique pathology. In ALS, nerve cells degenerate and deteriorate, and are unable to transmit messages to muscles. In around 90% of the cases of ALS, the cause remains unknown. Studies have concentrated on the responsibility of glutamate in motor neuron degeneration. Glutamate is one of several neurotransmitters in the brain. While there is no known cure for ALS, strides in medicine have allowed for the development of a wide variety of medications to treat the various symptoms of ALS, as well as dietary, physical therapy, and breathing techniques, all of which can lessen symptoms and increase life expectancy.
Chronic Wasting Disease is a highly transmissible, deadly neurodegenerative disease that affects cervids in North America (Belay et al., 2004; Saunders et al., 2012). There are only four types of cervid that are known to get this disease which include elk, mule deer, white-tailed deer, and moose (Chronic Wasting Disease Alliance). It has been classified has a transmissible spongiform encephalopathy (TSE), otherwise known as a prion disease (Belay et al., 2004). A prion is an irregular, pathogenic agent that causes abnormal folding of specific proteins called prion proteins. These proteins are mostly located in the brain (Chronic Wasting Disease Alliance). The abnormal folding of this protein causes neurodegenerative diseases in a variety of species including humans, sheep, cattle, and deer (Abrams et al., 2011).
Imagine that there is a cure for nearly every ailment that affects the human race. Imagine that you could help the terminally ill, put those you love out of pain, and cut the healing time of an enormous number of serious illnesses in half. Imagine a world in which pain and suffering would be nearly nonexistent, and the people you love can live safe from the fear of crippling injury. Now what if I told you that this utopia was a fast approaching reality? Everything from serious life threatening burns to lymphoma, AIDS, Alzheimer’s, Muscular Dystrophy, Parkinson’s Disease, Spinal Cord Injury, and Strokes could, in the very near future, be eliminated through the simple culturing and implementation of stem cell therapy . These diseases are no small component of the myriad of conditions that plagues the human race, and yet, the end for these horrible maladies could very well be in sight. Man has always sought to end suffering, largely without success, until now. the promise that stem cell therapy holds could completely change our world for the better. Already, stem cell therapy is being used to treat leukemia, immune disorders, hodgkins and non-hodgkins lymphoma, anemia and a profusion of other ailments. As you all know, this is no small accomplishment. One day i believe that we may look at alzheimer's and diabetes and other major illnesses much like we look at polio today, as a treatable illness. Right now, our research with stem cells is providing us with new light into how we look at and model disease, our ability to understand why we get sick and even to develop new drugs. In 2008, a researcher from the New York Stem Cell Foundation Laborato...
Parkinson's is an idiopathic, multifactorial neurodegenerative disease that attacks neurotransmitters in the brain called dopamine. Dopamine is concentrated in a specific area of the brain called the substantia nigra. The neurotransmitter dopamine is a chemical that regulates muscle movement and emotion. Dopamine is responsible for relaying messages between the substantia nigra and other parts of the brain to control body movement. The death of these neurotransmitters affects the central nervous system. The most common symptoms are movement related, including shaking, rigidity, slowness of movement and difficulty with posture. Behavioral problems may arise as the disease progresses. Due to the loss of dopamine, Parkinson's patients will often experience depression and some compulsive behavior. In advanced stages of the disease dementia will sometimes occur. The implications of the disease on the anatomy and physiology of the respiratory and phonatory systems significantly control speech.
genetic engineering]. But I am concerned about any other kind of intervention, for anything else
Parkinson disease (PD), also referred to as Parkinson’s disease and paralysis agitans, is a progressive neurodegenerative disease that is the third most common neurologic disorder of older adults. It is a debilitating disease affecting motor ability and is characterized by four cardinal symptoms: tremor rigidity, bradykinesia or kinesis (slow movement/no movement), and postural instability. Most people have primary, or idiopathic, disease. A few patients have secondary parkinsonian symptoms from conditions such as brain tumors and certain anti-psychotic drugs.
Is it possible to eradicate disease entirely? A half-century ago, little was known about how disease was affected by genetics. In 1953, James Watson and Francis Crick discovered the double helix structure of DNA. In the mid 1970’s, ways were developed to determine the order, or sequence, of the chemical letters in DNA. The Human Genome was completely unknown to man until 1990, when the National Institutes of Health (NIH) and the Department of Energy teamed up with international partners to complete the entire 3 billion base pairs of the Human Genome. The goal of this project was to understand the genetic factors in human disease and to hopefully find ways to diagnose, treat, and prevent disease. The Human Genome project has supported an Ethical, Legal and Social research program to address the many issues that might arise from this study. The Human Genome Project should continue because it has the potential to unlock the cure to countless diseases.