Biochemistry, Metabolic Processes, Homeostasis, Molecular Genetics And Population Dynamics

In order to review their inherited genetic risks and help them understand and provide counseling according to their specific needs the genetic counselor should know the Trosacks ' have already established that their unborn child has Tay Sachs disease and based on those needs they should be provided with appropriate guidance and counseling as they progress through their pregnancy. The discussion should include what causes genetic disorders, and what that means to the Trosack couple specifically, including dominant, recessive and x-linked disorders. However, recessive disorders should be fully discussed in this case. Another topic to include in the discussion are what genes and chromosomes are, and the relation to Tay Sachs disease.

Tay Sachs disease is a life threatening disease that is passed down through families. Anyone can be a carrier of Tay Sachs, but is not common in the general population. The disease is most common in the Jewish population. 1 in every 27 members is a carrier of the disease. Tay Sachs disease is a rare inherited disorder that progressively destroys nerve cells (neurons) in the brain and spinal cord. The most common form of Tay Sachs disease becomes apparent in infancy. Infants with this disorder typically appear normal until the age of 3 to 6 months, when their development slows and muscles used for movement weaken (Genetics Home Reference, 2017).

Well what causes Tay Sachs disease is that there’s something wrong with there fifteenth chromosome with this problem your body has trouble making the protein hexosaminidase A, since your body doesn’t make that anymore gangliosides build up and eventually will kill brain cells. In order for your child to get this disease the defective gene has to be passed down from each parent so that would mean that Tay Sachs disease is a heredity disease. If the defective gene just gets passed down from one parent it means that the child is a carrier of Tay sachs disease, in which this means that if this child marries someone who is also a carrier of Tay Sachs disease that means that there child will absolutely have this disease

Tay-Sachs follows an autosomal recessive pattern – both copies of the gene possess mutations. Warren Tay first described it in 1881. Bernard Sachs was the first to describe cellular changes and the genetics of it, in 1887. Tay described a patient with a cherry-red spot on their retina. Sachs established the connection the familial connections of the disorder, noting that most babies who had Tay-Sachs were of Eastern European, Jewish descent. If symptoms and physical characteristics suggest that a child may be suffering from Tay-Sachs disease, blood tests are used to determine whether or not the child’s body is producing the necessary Hex-A enzyme. DNA is extracted from the sample in an attempt to detect mutations of the Hex-A. There is no known cure for Tay-Sachs disease. For treatment and to ease the pain of/reduce some of the side effects, doctors may prescribe seizure medications. It is highly recommended that Tay-Sachs patients begin some form of Respiratory therapy. This type of therapy is necessary because children who have Tay-Sachs have a high chance of developing lung

Approximately 1.2 million people in the United States alone are a carrier of Tay-Sachs disease. Tay-Sachs disease is a rare genetic disorder in which there is a defective gene on chromosome 15. In order for someone to contract the disease they must be the offspring of both parents caring the genetic disorder. The likelihood of contracting the disease is a 50/50 chance because both parents must carry the gene. Tay-Sachs takes many forms, but it is most common amongst

Tay Sachs Disease is an inherited disorder that kills nerve cells in the brain, and also in the spinal cord. A couple of things that could cause this mutation is a missing enzyme. This is an enzyme called ganglioside, that is a fatty substance. Another reason why tay sachs could appear is a change in chromosomes. This is chromosome number 15. The gene is the HEXA gene, or hexosaminidase A. This is a recessive disorder that you can only inherit if both parents have tay sachs. Some symptoms to know if you have this disease is weakened muscles, startling of loud noises, seizures, hearing loss, blindness, and paralysis. If you’re an infant and you have tay sachs disease, you will start to gain abilities, like crawling, but then start to lose them.

The parents of an affected baby are carriers and will have a one in four risk of any future baby of that they decide to have being similarly affected.

The disease already began in the inside of the human body but now should start to begin to show on the outside as well. With most diseases there are many symptoms that follow. These symptoms usually don’t start until the age of three or four years of age (Cure Tay-Sachs foundation).The symptoms may be losing feeling in your muscles frequently, highly irritated by all noises, losing energy quickly, and redness in the retina of the eye. ( Curner Mutlum & Wotlers Kluwer, Micromedex, copyright 2000-2015). If you witness these

Tay Sachs is a inherited and rare genetic disorder named after the two scientists that discover significant aspects of the disease. Their names are Warren Tay and Bernard Sachs. Warren Tay was a ophthalmologist who discovered the cherry red spot on the retina of the eye. Whereas, Bernard Sachs, a neurologist, discovered the cellular changes of the disorder (National Tay Sachs & Allied Disease Association, 2015). Tay Sachs varies and the most common being in infants. What is Tay Sachs disease? Tay Sachs is a inherited genetic disorder where both parents carry the gene and pass it on to their child.

Have you ever thought about being a baby and then dying because you could not lift your arm or if you could not chew to eat? Tay Sachs disease is a genetic disorder that cause five year death penalty. Before you are born Tay Sachs is where your 15th chromosome is broken and can not cover itself up. The first physical symptom to appear when born is to have a red dot on the inside of your eye, from there it get worse until after five years they could be paralyzed and lose all hearing and vision. There is no cure or way to deal with Tay Sachs. Discovered first by Warren Tay on Accident he was a british ophthalmologist specialist in the branch of medicine concerned with the eye. Warren had started his research when he had a patient with

Tay-Sachs Disease is a rare fatal hereditary disease, occurring chiefly in infants and children, characterized by a red spot on the retina, gradual blindness, and paralysis. In infants, it is a progressive disease that is unfortunately always fatal. It is a rare metabolic disorder with severe neurologic symptoms.When you get this disease it causes fatty acids to start breaking down. Theses fatty acids are called lipids. Without Hex-A lipids start building up and eventually destroy the nerve cells in the brain. This is what makes the nervous system stop functioning properly.

The human body consists of many different systems which work together for one ultimate purpose; to keep the body functioning properly. For years scientists have studied the components of the body, but sometimes research only leads to more questions. One of those questions being, What if people were born without adrenal glands? With the different mutations discovered in the human genes throughout the recent years, this could be possible. In fact, if this occurred, the body would not be able to regulate metabolism or maintain an internal balance between salt and water. This would also hinder a woman’s ability to become pregnant.

All children that are affected have an eye abnormality called a cherry-red spot, which can be identified with an eye examination. A red spot in the eye that cannot be seen by the naked eye is a marker used to help diagnose a child with this disease. To properly diagnose someone the eye test and blood work must be done. Neimann pick is now one of the many genetic disorders tested for in infants at or shortly after birth

In order to remain alive, the body must maintain a constant internal environment, despite internal and external stressors, within the body’s limits. Bodies maintain an equilibrium of gas concentrations, temperature, pressure, pH levels, nutrients, and water levels; called homeostasis. There are two mechanisms involved in homeostasis, negative and positive, whose purpose is to return the body back to normal after any stressors. Feedback mechanism

All organisms perform vital reactions and carryout several mechanisms for survival. “All of the chemical reactions involving energy transformations in the cells of the body” (Mastrobuoni et al., 2014) constitute an organism’s metabolism. Metabolism is comprised of two types of reactions processes: catabolism and anabolism. Catabolism is the breakdown and release of energy while anabolism is the building or synthesis of energy through energy absorption. Thermoregulation takes into account such different reaction processes occurring and their coupling.