Classify Genetic Diseases

Health can be looked at in many ways, but is most efficient to examine it using the biopsychosocial model; starting with biological. Biological, or physical, factors that contribute to health can be anything that is related to a person physiologically (Straub, 2014). One of the simplest biological factors that influence health is genetics; humans are genetically complex and the smallest change in genetics can cause a plethora of health challenges. Gene disorders can be hereditary since birth or occur later in life; but are either inherited by one or both parents. One type of genetic disorder is a single-gene disorder; which is when a mutation affects just one gene. Sickle cell anemia would be an example of single-gene disorder. On the other hand, chromosomal disorders are disorders, such as Down syndrome, that occur when chromosomes are altered or

Cystic Fibrosis (CF) is the most common and fatal genetic disease currently in the United States, affecting roughly 30,000 Americans each year (National Human Genome Research Institute, 2013). CF is an autosomal inherited disease that adversely affects the mucus and it’s production throughout the entire body. Mucus is normally a slippery substance that lubricates and protects vital organs and body systems including the lining of airways, reproductive system and digestive systems. Patients who are diagnosed with CF actually have mucus that is abnormally sticky and thick, which places them at a high risk for severe pulmonary, digestive, and reproductive problems. Specifically regarding the pulmonary system CF patients often develop clogged airways, leading to bacterial infections and breathing abnormalities such as chronic coughing, wheezing, inflammation and lung damage. As a result of this recurrent and problematic, this places the patient at an increased risk for permanent lung damage and disease. Over time due to recurrent, chronic lung infections the characteristic of the lungs begin to change as more and more scar tissue develop making them fibrotic and develop cysts.

Genetic disorders come in various forms. Some can be caused by mutations of the genes or chromosomes while others can be caused by a process called nondisjunction. Nondisjunction occurs when chromosomes during meiosis do not separate correctly and the daughter cells receive too much or too little genetic information. Klinefelter's is caused by nondisjunction which results in an extra X chromosome being present in a male.

When people think about a mutation or a genetic disorder, they often tend to think about fictional like characters such as a half beast half man scenario. However, genetic disorders and mutations are simply just mistakes in the genetic code. These mistakes can be so minor that it has no effect on you whatsoever, or they can be a major problem. Myotonic dystrophy type 1 is one of those genetic mistakes that has a huge impact on the way you live your life. Myotonic dystrophy type 1 is a type of multisystem disorder that cannot be caught, but is genetically inherited. Myotonic dystrophy type 1 has to do with a special gene and chromosomal problem, with very severe, rare symptoms, and it has a major impact on life.

The reading shows disease and inheritance in an entirely new light. It introduces the idea that genetically inherited diseases may have been selected for, which means that they must provide certain evolutionary advantages. It reorients the reader’s perspective about a disease like hemochromatosis, which has the potential to be incredibly harmful and even deadly, establishing that it may have once provided protection from the bubonic plague, making it an advantageous trait. This brings other genetic diseases into question, examining why diseases that appear to be harmful have not been eliminated from the gene pool. The idea that a disease that is harmful and dangerous in modern times could have once been a beneficial adaptation is very interesting.

There are two types of diseases, infectious and genetic. Unlike infectious diseases that are caused by organisms such as bacteria, genetic disorders are caused by mutations in an organism’s DNA. Cystic Fibrosis is a genetic disorder that is recessive autosomal and causes the creation of thick and sticky mucus. Because the disorder is recessive there must be two recessive alleles present for the trait to be expressed. Whereas in dominant disorders only one dominant allele needs to be present to express a disorder. For there to be two recessive alleles, both of the parents must be homozygous recessive or heterozygous for the offspring to express the recessive trait. If the offspring is heterozygous they will become carriers of the disorder and

The autosomal recessive trait only turns into a disease, if an individual inherits the same abnormal gene for the same trait from each parent. If the individual receives one normal gene and one disease gene, then the individual

Genetic disorders or heredity diseases are disorders that are caused by a missing gene, abnormal gene, or chromosomal characteristic (The Free Dictionary, 2007). There are to me found many genetic disorders. Klinefelter syndrome is an example of a genetic disorder. Klinefelter syndrome affects the male rather than female (“47, XXY”, 2016).

The adoption of Electronic Health Record (EHR) system promises a number of substantial benefits including better care and decreased health care costs. One of them is the International Classification of Diseases (ICD). These International Classification of Disease (ICD) is developed by the World Health Organization, which has a set of diagnostic codes for the classification of disease, mortality and morbidity, indexing hospital records by disease, analyzing payments, resource utilization and tracking public health records (Hebda & Czar, 2013). There are two classification systems, the ICD-9 which is used by the United States for reimbursement purposes and the ICD-10 is used internationally. Currently,

Nature and nurture are interchangeable in the way they manifest themselves in the human mind. We are products of our environment, and we all have the same genetic make-up. But what happens when someone is born with an abnormality, or when our environment influences our gene expressions during our life-span? One of the ways abnormalities can be seen is by taking a look at disorders. In this case, a psychotic disorder. Schizophrenia grasps my attention because it is the consequence of our psychosocial environment, brain abnormalities, and it can have genetic or prenatal contributions as well. Therefore, making it endlessly difficult to jump to conclusions about why one person might be diagnosed with it during their lifetime.

Birth defects or genetic disorders can be defined as the presence of the deformities or deficiencies in the physical or cerebral formation or function of a child at birth. These disorders range from inconsequential to critically collapsing or life-threatening. A major imperfection of some type happens to be present in just about three percent of all births. Some defects like Down syndrome, Tay-Sachs disease, sickle cell disease, and hemophilia are genetic in origin. On the other hand, some defects like rubella, gonorrhea and syphilis may be caused by infections. Other agents that could cause malformation include drugs or hormones taken by the mother during pregnancy. A defect can also occur in the baby if there is a history of maternal illnesses such as diabetes. The developing fetus can also be affected due to the kind of nutrition mother consumes. If a woman drinks alcohol, uses drugs or smokes, her children are likely to be born defected. In some cases, when a pregnant woman is exposed to toxic chemicals and radiation, the developing fetus is expected to develop poorly. If the male parent is used to of smoking, takes drugs, or is exposed to toxic chemicals, all such things can damage his sperm. This defected sperm may transfer the defect to the embryo in fertilization. Some disorders appear if the mother or father is older. The older age elevates the chances age-related gene mutations. Now the scientific technology has become so advanced

Any disease caused by an abnormality in a person’s genome, the person’s entire genetic makeup. Some genetic diseases are inherited from their parents, while other genetic diseases are caused by acquired changes or mutations in pre-existing gene or group of genes.

Wiskott-Aldrich Syndrome (WAS) is a genetic defect characterized by immunodeficiencies and an inability to properly form blood clots. It affects 4 out of 1 million live births worldwide. Patients with WAS show symptoms such as eczema, easy bruising, susceptibility to infection, autoimmune disorders, and in many cases, lymphoma in later stages of life. Wiskott-Aldrich Syndrome was discovered in 1954 by Dr. Robert Anderson Aldrich while examining one of his patients. His findings were similar to that of Dr. Alfred Wiskott, who documented the disease in 1939, but did not know its cause or what the disease was. He noted that the three brothers of the family he studied had WAS, but not the sisters. In 2006, German researchers studied the family members of the brothers from Dr. Wiskott’s documentations and saw that the Wiskott-Aldrich gene was mutated.

There are many types of genetic conditions. Genetic mutations cause these genetic conditions. Genetic mutations can occur if there is an extra chromosome in a gene, if there is a missing chromosome, or even if there is a distorted chromosome. Some genetic conditions include autism, food allergies, and Down syndrome.

The definition of a genetic disease given by medicalnet.com is “any disease that is caused by an abnormality in an individual’s genome”(Mednet, 2014). Usually, the abnormality can be caused by a small mutation in the DNA gene or an “entire set of chromosomes”. There are four different types of inheritance for genetic disease, which are: Single Gene Inheritance, Multifactorial inheritance, Chromosomal Abnormalities, and Mitochondrial Inheritance. Some examples of the single gene inheritance would include cystic fibrosis, sickle cell anemia, and Huntington’s disease all of which mutations have occurred in a single gene in the DNA. “Cystic Fibrosis affects cells that produce mucus and digestive juices which in result turns these cells into thick cells which clog up air pathways in the lungs and pancreas” (MayoClinic, 2012). Currently, there is no cure for CF but there are treatments given to patients that improve their health. “Most patients with CF carry the F508del CFTR mutation, which causes defective CFTR protein folding and processing in the endoplasmic reticulum, resulting in minimal amounts of CFTR at the cell surface” (Pubmed, 2011). One way to treat the F508 mutation is to fix it with small molecules such as using VX-809, which is the corrector to treat cystic fibrosis. “In cultured human bronchial epithelial cells isolated from patients with CF homozygous for F508del, VX-809 improved F508del-CFTR processing in the