Genetic Disorder Case Study

1. The meaning of Duchenne muscular dystrophy is a severe form of muscular dystrophy caused by a genetic defect that can be characterized by a disturbed growth of cardiac and skeletal muscles. It usually affects boys. In 1861, a French neurologist, Guillaume B. Duchenne, was the first person to give a detailed description of this syndrome.

The client attends school where he receives an Individual Educational Plan (IEP) to address his Attention-Deficit Hyperactivity Disorder along with his developmental delay and learning disability. There is limit to no information on the client’s developmental history as the client’s biological mother parental rights have been terminated due to history of domestic violence, neglect and the possibility of physical abuse. The client’s biological sister has also been removed from their biological mother and they both reside with their pre-adoptive

Down syndrome is a genetic disorder that numerous individuals around the world suffer from; it is an intellectual disability that is caused by having one too many chromosome 21 copies, trisomy 21. The average person has two copies of chromosome 21 in each cell, whereas, an individual with Down syndrome has an extra copy of chromosome 21. This happens when either the sperm or egg cell undergoes atypical cell division during development. In the United States, there are approximately 400,000 individuals who have been diagnosed with Down syndrome, according to the last census in 2012 (National Down Syndrome Society).

Ms. Lindsey Gaouette is an 18 year old female who receives special education services at South Hadley High School for a health disability: Russell Silver Syndrome. Lindsey struggles with learning difficulties and has worked hard to remediate her learning deficits. Lindsey’s area of weaknesses includes; executive functioning, recall, organization, planning, attention, concentration, processing, reading comprehension, communication and due to her short stature, she does have some physical limitations. Lindsey has been on an IEP most of her academic history. Just last year Lindsey was taken off the IEP and placed on a 504 plan. She has been successful this year with the help of her teachers and additional tutoring.

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.

Marfan syndrome is a genetic disorder that affects the body’s connective tissue that holds all of the body’s cells, organs and tissue together. Connective tissue plays an important role in helping the body grow and develop properly throughout a lifetime. Marfan syndrome primarily affects the proteins in the connective tissue all over the body. The primary protein that plays a role in Marfan syndrome is called fibrillin-1. A defect in the gene causes poor binding of fibrillin-1 to other proteins in the body, most commonly the protein named Transforming Growth Factor Beta, or TGF-β. The excess TGF-β protein accumulates in the lungs, heart, heart valves, and aorta. Once the structure of these organs are affected, their functioning

Muscular dystrophy (MD) is a genetic disorder caused by incorrect or missing genetic information that leads to the gradual weakening of the muscle cells. Various causes lead to weak and deteriorating muscles depending on the type of muscular dystrophy the patient was affected by. However, there are many causes for muscular dystrophy due to the fact that there are thirty forms of muscular dystrophy, which are categorized under several categories. All are ultimately caused by autosomal recessive, autosomal dominant, sex-linked, and random mutations in very rare cases.

The BLS states that the employment outlook for the genetics counseling field is quite promising. They project it to grow at 29 percent until the year 2024, which is much faster than average. Keep reading to learn why the employment outlook for this exciting medical field is so good.

A Genetic Counselor is someone who provides information and support to those who have birth defects, genetic disorders or at risk of such conditions. They may also look for treatment of disorders, or conduct research on the cause or they may work to help the families and individuals understand the condition they or others may have. To be a genetic counselor you have to have completed master's degree program in genetic counseling. Students should prepare with undergraduate courses in biology, chemistry, genetics, and psychology. Some the top schools to go to outside of Virginia for genetic counseling majors is Johns Hopkins University, Northwestern University, or Boston University School of Medicine. Though schools that are in state and are

If the results are positive for a genetic fetal anomaly, it will most likely be a devastating blow to the expecting parents so healthcare workers should take extra care to be empathetic. Parents will probably have many questions such as how did this happen? What are the chances of survival? Will the child live in pain? Are there any cures? Etc. The healthcare worker should attempt to answer these questions calmly and should provide the most accurate, unbiased, and comprehensive information that is possible about the anomaly. In addition, the healthcare worker should have already researched what support and services are available so the healthcare worker may provide the parents with as many resources as possible to assist them with future care,

According to Berger (2014), a patient can receive genetic counseling to learn more about a condition/disease he or she may possibly be at risk for and may possibly pass onto their children (p. 88). A genetic counselor is educated and trained to describe to the patient the condition/disease, the benefits and drawbacks for taking the genetic test, the test results’ meaning, and how having the condition could affect their future children (Berger, 2014, p. 88). Then, the patient – not the genetic counselor – makes decisions about his or her next steps with respect to all the information they have been provided by the genetic counselor (Berger, 2014, p. 89).

Prader Willi Syndrome results from partial deletions on chromosome 15 that affect the regulation of the gene expression, or how genes turn on and off. One of the main symptoms of Prader Willi Syndrome is the inability to control eating. In fact, this syndrome is the leading genetic cause of life-threatening obesity. Other symptoms include low muscle tone and poor feeding as an infant, delays in intellectual development, and difficulty controlling emotions. Necdin and SNRPN are important proteins that is missing in Prader Willi Syndrome patients. Necdin helps regulate growth and the growth of neurons. The loss of Necdin in Prader Willi Syndrome patients can help explain some of their symptoms. The lack of the SNRPN gene expression

So, even if you didn’t recognize the disease as genetic, you’ve certainly run into someone with a far reaching genetic disorder. A disorder that left them borderline unable to function, perhaps a disorder that left their ability to think or remember things severely limited, a disorder that hindered them in all aspects of their lives, or even a disorder that lead to such frailty, that they could die within the next ten years. Everyone has seen someone like this, whether family or not, now should they be able to have a chance to spread their disorder further, through having children? Using common sense, and various government websites detailing the multitude of genetic disorders and how easily and randomly they can be inherited, anyone can come to the quick conclusion that they shouldn’t be able to. Now, this view that people with debilitating genetic disorders shouldn’t be able to reproduce comes not out of a place of hatred, but truly and honestly out of sympathy. People with such awful disorders shouldn’t be allowed to have children.

TLRs play a crucial role in mediating protection against pathogens. The interactions between PAMPS and TLRs result in triggering of cellular responses with subsequent production of cytokines and other immunoregulatory molecules leading to induction of innate and adaptive immune responses. Previous studies have demonstrated that TLR ligands can be exploited prophylactically to confer immunity against pathogens (Gomis et al., 2004; Dar et al., 2009; St. Paul et al., 2012c; Barjesteh et al., 2015) and as vaccine adjuvants to enhance adaptive immune responses (Mallick et al., 2011). Although the role of TLR ligands in eliciting innate and adaptive responses has been characterized in the chicken spleen and bursa of Fabricius (St.

“Preimplantation genetic diagnosis (PGD) is a procedure used prior to implantation to help identify genetic defects within embryos created through in vitro fertilization to prevent certain diseases or disorders from being passed on to the child.” This definition is from Americanpregnancy.org. PGD is used to screen for genetic diseases in embryos before they are placed back into the Uterus through IVF. If an embryo comes back with a genetic disease it is discarded and the viable embryos are the only ones inserted back into the uterus. There are risks that come with this type of test, 1-2% of embryos tested get damaged in the process, and sometimes not all embryos make it to the stage to go through PGD. IVF is a process by which an egg is fertilised by a sperm outside the body. That means an egg is removed from the woman 's ovaries, it is then fertilised by the sperm in a laboratory. The fertilised egg is then placed back in the womens uterus. Day 0 is the day of fertilisation of the egg, then day one first cleavage, low glucose levels, high lactate, high pyruvate. Then day two the two cell stage, during day 3-4 the zygote goes from 4 cell to 8 cell stage , then day 5-6 the embryo will go through PGD where the cells will be taken from the blastocyst stage, this means no harm should come to the gamete, although it carries risks. PGD has a demand due to genetic disorders that can be inherited from parents to offspring. In New Zealand some