The physical appearance of an individual is characterized originally from Deoxyribonucleic acid (DNA), and you will find this in every human cell. DNA is an instruction manual for the body, just like the instruction manual you get for that new toy you bought your kids that needs put together, only DNA is the body’s manual for making you who you are. DNA exist in every living being not just humans. It is responsible for making all the structures and materials that our bodies need to function. Every individual has their own DNA that is not like anyone else’s. However, the cells of an individual contains the DNA, which most importantly is needed to create a unique make up for that person.
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An example of a recessive genetic disorder is Albinism. “Albinism is a recessive inherited defect in melanin metabolism in which pigment is absent from the hair, skin, and eyes (Occulocutaneous albinism) or just from the eyes (ocular albinism)” (Albinism, 2016).
An example of an X- disorder is Autism Spectrum Disorder. Autism normally begins in infants, but will be noticed no later than the age of three. My oldest daughter who is 15 has a form of Autism which is knows as Pervasive Development Disorder. She is able to talk, write, and perform normal daily activities but only in her time and her social skills are not great. She is in a life skills class and even though she is 15 and should be in 9th grade she is in 8th and only working at like a 3rd grade level. She need a lot of extra help and reminders when it comes to any and everything. An example of a Y- disorder would be Jacobs Syndrome. Jacobs Syndrome is rare but can occur in men who have an extra Y chromosome (Jacobs Syndrome symptoms, diagnosis, treatments, and causes, n.d.) An example of a X- Y- linked genetic disorder is Swyer Syndrome. Swyer Syndrome is where a female has the insides of a woman such as the fallopian tubes, and the uterus, and these organs are formed, but whether they have the ovaries or the testicles, neither would be functional. If this goes untreated than the individual would not go through puberty. Another example of this type of disorder is Turner Syndrome, which is diagnosed when a female has a normal X chromosome existent, but then the other chromosome is not, and if it is present it would be structurally altered (U.S. National Library of Medicine, 2016).
Genetics can help doctors with the patient’s history of health along with the health history of family members, to evaluate the risk of a person’s chances to overcoming a specific genetic disorder. This knowledge will make it possible to help in the prevention, diagnosis, prognosis, and treatment (Wray, Goddard. & Visscher, 2016).
A genetic counselor will help families to attain information and support to those who are at risk of a genetic disorder (Columbia & Alliance, 2016). A Counselor can help families in this situation with helping them to comprehend the importance of genetic disorders. These counselors are very important to an individual and families with or at risk of a genetic disorder. The reason the counselor is so important is because, this is the one person they will go to for information about their genetic disorder. They also provide information to other doctors, and even the general public (Columbia & Alliance).
Currently, studying is still being conducted as to when and how to use gene therapy. According to the staff at the Mayo Clinic, this therapy is providing treatment for things such as cancer, heart disease, Aids, and a few others (Staff, 2015).
No, there currently is not any gene therapy or at least none that has been approved by the Federal Drug Administration (FDA)...