Genetic disorder

therapy has recently become more popular as a form of treatment and has the ability to help many children and families. This new idea is known as music therapy. Music therapy is a powerful tool to help improve the lives of many children with genetic disorders such as Autism and Down Syndrome. Music Therapy. Many people have heard about or even experienced this modern form of treatment. The majority of the population, however, does not really understand the concept. One therapist summarized public

There are around 6,000 known genetic disorders (Genetic Disease Foundation). The symptoms of these disorders range from memory loss to blindness, physical abnormalities and more. A process known as gene editing was created in an attempt to do away with genetic disorders. Gene editing was named “Science Magazine 's Breakthrough of the Year 2015” due to its ease and high accessibility (ScienceDirect). It works by using CRISPR (Clustered Regularly Interspaced Short Palindromic Repeats) and Cas9 to make

Genetic testing is when tests are done on the blood and other tissue to find genetic disorders in an individual. It is used as a healthcare tool to detect gene variants associated to a certain disease or disorder, and is used non-clinically for paternity testing and forensics. There are many different methods of testing, usually done with a blood sample. Other methods include diagnostic testing, carrier testing, prenatal testing, pre-implantation genetic testing, newborn screening, pharmacogentic

Cardiofaciocutaneous syndrome is a very rare and serious genetic disorder that generally affects the heart, facial features, and skin of an individual. It is caused by a desultory gene mutation, which takes place in one of four genes. Those genes are known as BRAF, MEK1, MEK2, and KRAS. From research, it is also suspected there is a possibility that other genes are associated with the rare condition. This disorder holds multiple alternative names, a long history, obvious symptoms, extensive amounts

There are genetic components that are being identified in the diagnoses of mental health disorders associated with Huntington’s disease through human genome and family research. Diagnostic and presymptomatic testing is available by discovering a gene mutation for Huntington Disease (HD) and prepares persons who are at risk for Huntington Disease (HD) to ask for genetic testing. A multi-visit protocol is enacted when HD genetic testing is offered through HD testing centers, followed by education and

Prader-Willi Syndrome is a genetic disorder that is passed down maternally. The paternal genes of the chromosome 15 in the region of q11-q13 are deleted or unexpressed. The result of these deletions carries distinct phenotypes that differentiate PWS from other disorders (Böhm, 2014). Some characteristics are a short stature, and specific facial features that tend to make the affected persons resemble one other such as seen in Down syndrome. This typically includes “almond-shaped eyes, a thin upper

The genetic disorder that I am talking about is cat eye syndrome (CES). Cat eye syndrome is a recessive trait and, it is also a sex linked gene. One of the characteristics of CES is when your pupils look alot like cats pupils. CES isn't all that great it can cause eye, ears, heart, and kidney defects. Cat eye syndrome (CES, also known as Schmid–Fraccaro syndrome, is a condition caused by a chromosomal abnormality and is named after the cat-like eye shape it causes. In people affected by cat eye

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

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

Achondroplasia is a genetic disorder in which there is a growth hormone deficiency, or there is a genetic mutation in either the father’s sperm or mother’s egg. (mayo clinic, March 20,2014.) Achondroplasia was the first discovered in ancient Egyptian records. People with achondroplasia were considered people with supernatural powers. Many people call dwarfs midgets but to them, it is very disrespectful because midget literally means little person. Some acceptable names that you can use that will