Genetic Disorder Case Study

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).

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.

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.

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).

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.

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

Genetic counseling is for older child bearing mothers seeking counseling for the best course to take with giving birth. In most cases this is for older women who are becoming mothers. It is common that the baby could be born with a hereditary disorder and genetic problems due to the mothers high chromosomal abnormalities. As a young mothers pregnancy it is 1 in every 200 pregnancies to have this problem, for older mothers the rate is 1 in every 20 pregnancies. (schonberg&tifft, 2007) Some disorders for the baby are common and controllable, such as blood disorders. But there is also high risk of premature birth or miscarriage. These extra genes include diseases like cystic fibrosis, muscular dystrophy, Huntington disease, and nervous system

Based on parent interviews, intakes, and the clinician’s observations during play, the following diagnoses were considered disruptive mood dysregulation disorder, intermittent explosive disorder oppositional defiant disorder, and adjustment disorder.

Cystic Fibrosis (CF) is an autosomal recessive genetic disorder most commonly found amongst the Caucasian population. In the United States, the reported prevalence of CF for the Caucasian population is 1:3200, for African American is 1:15000 and for Asian American is 1:310001.

The prevalence of hearing loss has doubled over the past 30 years in the United States and continues to steadily incline as time goes on. Hearing loss itself encompasses a wide variety of disorders, effects many diverse populations, and is caused due to a multitude of different sources (“The Prevalence”). Its onset is also extremely variant and could happen either congenitally or at any point later on in a person’s life. One of these such congenital disorders is Waardenburg syndrome. Waardenburg syndrome is a genetic disorder characteristized by four different types of specific disorders that are further differentiated by their physical attributes and genetic causes. It’s estimated that about 1 in 40000 people are diagnosed with this disorder

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,

There are a few challenges that come to mind about entering the field of genetic counseling. I know that clinical genetic counseling can become very emotionally taxing. There is a lot of uncertainty in the field of genetics. It can be a struggle to provide support for patients and their families when there may be no definitive solution to their predicament. There is the potential to become too emotionally attached in a given situation. It is important to provide the support for your patients while maintaining an emotional and professional distance. Everyone has their own biases. As a genetic counselor, it is imperative that we acknowledge our biases and try to move past them in order to give the best care to our patients.

can be treated in accordance to their illness. In drug addiction, there is not a specific addiction gene that can be identified as the cause of an addiction (“Genes”).

The number of patients whose data were entered into PROVE by September 2016, for each type of disease is as follows:

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.